Chemical: Drug
fluorouracil

Available Guidelines

  1. CPIC Guideline for fluorouracil and DPYD
  2. DPWG Guideline for fluorouracil and DPYD

last updated 07/30/2014

1. CPIC Guideline for fluorouracil and DPYD

Summary

The CPIC Dosing Guidelines for fluoropyrimidines (i.e. 5-fluorouracil, capecitabine or tegafur) recommends an alternative drug for patients who are homozygous for DPYD non-functional variants - *2A (rs3918290), *13 (rs55886062), and rs67376798 A (on the positive chromosomal strand) - as these patients are typically DPD deficient. Consider a 50% reduction in starting dose for heterozygous patients (intermediate activity).

Annotation

May 2014 Update on PharmGKB

December 2013 Publication

Accepted article preview online August 2013; Advance online publication October 2013.

  • Guidelines regarding the use of pharmacogenomic tests in dosing for fluoropyrimidines have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC).
  • These guidelines are applicable to:
    • at the time of this writing, there are no data available on the possible role of DPYD*2A, *13, or rs67376798 in 5-fluorouracil toxicities in pediatric patient populations; however, there is no reason to suspect that DPYD variant alleles would affect 5-fluorouracil metabolism differently in children compared to adults.
  • Excerpt from the fluoropyrimidine dosing guideline based on DPYD genotype:
    • "The strength of the dosing recommendations is based on the fact that some variants (DPYD*2A, *13, and rs67376798) clearly affect DPD activity, and DPD activity is clearly related to 5-fluorouracil clearance, and 5-fluorouracil exposure is associated with its toxic effects. Therefore, reduction of fluoropyrimidine dosage in patients with these variants may prevent severe and possibly life-threatening toxicities. However, available evidence does not clearly indicate a degree of dose reduction needed to prevent fluoropyrimidine related toxicities...[Based on literature review (see full manuscript),] our recommendation is to start with at least a 50% reduction of the starting dose followed by an increase in dose in patients experiencing no or clinically tolerable toxicity to maintain efficacy, a decrease in dose in patients who do not tolerate the starting dose to minimize toxicities or pharmacokinetic guided dose adjustments (if available). Patients who are homozygous for DPYD*2A, *13, or rs67376798 may demonstrate complete DPD deficiency and the use of 5-fluorouracil or capecitabine is not recommended in these patients."
  • Download and read:

Table 1: Recommended dosing of fluoropyrimidines by genotype/phenotype.

Adapted from Tables 1 and 2 of the 2013 guideline manuscript.

Phenotype (genotype)Examples of diplotypesImplications for phenotypic measuresDosing recommendationsClassification of recommendationsa
Homozygous wild-type or normal, high DPD activity (two or more functional *1 alleles)*1/*1Normal DPD activity and "normal" risk for fluoropyrimidine toxicityUse label-recommended dosage and administrationModerate
Heterozygous or intermediate activity (~3-5% of patients), may have partial DPD deficiency, at risk for toxicity with drug exposure (one functional allele *1, plus one nonfunctional allele - *2A, *13 or rs67376798Ac)*1/*2A; *1/*13; *1/ rs67376798Ac)Decreased DPD activity (leukocyte DPD activity at 30% to 70% that of the normal population) and increased risk for severe or even fatal drug toxicity when treated with fluoropyrimidine drugsStart with at least a 50% reduction in starting dose followed by titration of dose based on toxicity b or pharmacokinetic test (if available)Moderate
Homozygous variant, DPD deficiency (~0.2% of patients), at risk for toxicity with drug exposure (2 nonfunctional alleles - *2A, *13 or rs67376798A c)*2A/*2A; *13/*13; rs67376798Ac / rs67376798AcComplete DPD deficiency and increased risk for severe or even fatal drug toxicity when treated with fluoropyrimidine drugsSelect alternate drugStrong

a Rating scheme described in 2013 supplement.

b Increase the dose in patients experiencing no or clinically tolerable toxicity to maintain efficacy; decrease the dose in patients who do not tolerate the starting dose to minimize toxicities.

c Note that the rs67376798A allele refers to the allele on the positive chromosomal strand. This is important because DPYD is on the minus chromosomal strand and rs67376798 is a T/A snp. Therefore, the T allele on the gene confers the deficiency, while the complement on the positive chromosomal strand (A allele) is indicative of deficiency.


last updated 02/07/2014

2. DPWG Guideline for fluorouracil and DPYD

Summary

An alternative drug rather than fluorouracil is recommended for DPYD poor metabolizer patients, and a reduced dose (by 50%) of fluorouracil or use of an alternative drug is recommended for intermediate metabolizer patients.

Annotation

The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for fluorouracil based on DPYD genotype [Article:21412232]. They recommend that an alternate drug be used for poor metabolizer patients, and a reduced dose or alternate drug for intermediate metabolizer patients.

Phenotype (Genotype)Therapeutic Dose RecommendationLevel of EvidenceClinical Relevance
PM (2 inactive alleles, 2 decreased activity alleles, or one inactive and one decreased activity alleles)Select alterantive drug. Tegafur is not a suitable alternative because this drug is also metabolized by DPD.Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints.Clinical effect (S): death; arrhythmia; unanticipated myelosuppression.
IM (1 active allele and 1 inactive or decreased activity allele)Reduce dose by 50% or select alternative drug. Tegafur is not a suitable alternative because this drug is also a substrate for DPD. Increase dose in response to toxicity and efficacy.Published controlled studies of moderate quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpoints.Clinical effect (S): death; arrhythmia; unanticipated myelosuppression.
Allele TypeAlleles
active*1, *4, *5, *6, *9A
decreased activity*9B, *10
inactive*2A, *3, *7, *8, *11, *12, *13, 496A>G, IVS10-15T>C, 1156G>T, 1845G>T
  • *See Methods or PMID: 18253145 for definition of "moderate" quality.
  • S: statistically significant difference.


Annotated Labels

  1. FDA Label for fluorouracil and DPYD
  2. PMDA Label for fluorouracil and DPYD
  3. HCSC Label for fluorouracil and DPYD

last updated 10/25/2013

1. FDA Label for fluorouracil and DPYD

Actionable PGx

Summary

Fluorouracil is available in both a topical cream and as an injection. These two formulations have different indications. Both FDA-approved labels contain information about the potential for severe toxicity in patients with dipyrimidine dehydrogenase (DPD) deficiency. However, neither label mentions testing for genetic variants or activity of DPD.

There's more of this label. Read more.


last updated 01/26/2015

2. PMDA Label for fluorouracil and DPYD

Actionable PGx

Summary

The PMDA package insert for fluorouracil states that severe adverse events have occurred in patients receiving the drug who are dihydropyrimidine dehydrogenase (DPD)-deficient. DPD is the enzyme responsible for the degradation of fluorouracil and other fluoropyrimidines.

There's more of this label. Read more.


last updated 06/08/2015

3. HCSC Label for fluorouracil and DPYD

Actionable PGx

Summary

The product monograph for fluorouracil states that it should be used with care in patients who have a dihydropyrimidine dehydrogenase (DYPD) deficiency, due to the risk for experiencing toxicity.

There's more of this label. Read more.


Clinical Variants that meet the highest level of criteria, manually curated by PharmGKB, are shown below.

To see more Clinical Variants with lower levels of criteria, click the button at the bottom of the page.

Clinical Annotation for rs45445694 (TYMS), capecitabine, fluorouracil, Pyrimidine analogues, tegafur, Colorectal Neoplasms, Neoplasms, Pancreatic Neoplasms and Rectal Neoplasms (level 3 Efficacy, Toxicity/ADR)

Level of Evidence
Level 3
Type
Efficacy, Toxicity/ADR
Variant
rs45445694
Genes
TYMS
Phenotypes
Colorectal Neoplasms, Neoplasms, Pancreatic Neoplasms, Rectal Neoplasms
OMB Race
Mixed Population
Race Notes
White, Asian, Mixed, unknown

To see the rest of this clinical annotation please register or sign in.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

? = Mouse-over for quick help

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page.

Links in the "Gene" column lead to PharmGKB Gene Pages.

List of all variant annotations for fluorouracil

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
VIP No VIP available No VIP available CYP2A6 *1B1 N/A N/A N/A
No VIP available CA VA DPYD *1 N/A N/A N/A
No VIP available No VIP available VA DPYD *2A N/A N/A N/A
No VIP available No VIP available VA DPYD *2B N/A N/A N/A
No VIP available No VIP available VA DPYD *4 N/A N/A N/A
No VIP available No VIP available VA DPYD *5 N/A N/A N/A
No VIP available No VIP available VA DPYD *6 N/A N/A N/A
No VIP available No VIP available VA DPYD *9A N/A N/A N/A
No VIP available CA No VIP available DPYD *9B N/A N/A N/A
No VIP available No VIP available VA DPYD *11 N/A N/A N/A
No VIP available CA VA DPYD *12 N/A N/A N/A
No VIP available No VIP available VA DPYD *13 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *1 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *6 N/A N/A N/A
No VIP available No VIP available VA UGT1A1 *28 N/A N/A N/A
No VIP available No Clinical Annotations available VA
DPYD poor metabolizer N/A N/A N/A
No VIP available No Clinical Annotations available VA
DPYD deficiency N/A N/A N/A
No VIP available No Clinical Annotations available VA
rs10049380 NC_000003.11:g.124487443T>C, NC_000003.12:g.124768596T>C, NM_002213.4:c.2017+417A>G, XM_005247436.1:c.1927+417A>G, XM_005247436.2:c.1927+417A>G, XM_006713630.2:c.1882+417A>G, rs59662485
T > C
SNP
No VIP available No Clinical Annotations available VA
rs10209881 NC_000002.11:g.31246249T>C, NC_000002.12:g.31023383T>C, NM_001253826.1:c.315-57081A>G, NM_001253827.1:c.70-30376A>G, NM_024572.3:c.130-30376A>G, NR_045602.1:n.903-30376A>G, XM_005264559.1:c.25-30376A>G, XM_011533104.1:c.448-30376A>G, XM_011533105.1:c.70-30376A>G, XM_011533106.1:c.43-30376A>G, rs56517291, rs57849618, rs59539437
T > C
SNP
No VIP available CA VA
rs1042522 NC_000017.10:g.7579472G=, NC_000017.10:g.7579472G>C, NC_000017.10:g.7579472G>T, NC_000017.11:g.7676154G=, NC_000017.11:g.7676154G>C, NC_000017.11:g.7676154G>T, NG_017013.2:g.16397C=, NG_017013.2:g.16397C>A, NG_017013.2:g.16397C>G, NM_000546.5:c.215C=, NM_000546.5:c.215C>A, NM_000546.5:c.215C>G, NM_001126112.2:c.215C=, NM_001126112.2:c.215C>A, NM_001126112.2:c.215C>G, NM_001126113.2:c.215C=, NM_001126113.2:c.215C>A, NM_001126113.2:c.215C>G, NM_001126114.2:c.215C=, NM_001126114.2:c.215C>A, NM_001126114.2:c.215C>G, NM_001126115.1:c.-939C=, NM_001126115.1:c.-939C>A, NM_001126115.1:c.-939C>G, NM_001126116.1:c.-939C=, NM_001126116.1:c.-939C>A, NM_001126116.1:c.-939C>G, NM_001126117.1:c.-939C=, NM_001126117.1:c.-939C>A, NM_001126117.1:c.-939C>G, NM_001126118.1:c.98C=, NM_001126118.1:c.98C>A, NM_001126118.1:c.98C>G, NM_001276695.1:c.98C=, NM_001276695.1:c.98C>A, NM_001276695.1:c.98C>G, NM_001276696.1:c.98C=, NM_001276696.1:c.98C>A, NM_001276696.1:c.98C>G, NM_001276697.1:c.-1020C=, NM_001276697.1:c.-1020C>A, NM_001276697.1:c.-1020C>G, NM_001276698.1:c.-1020C=, NM_001276698.1:c.-1020C>A, NM_001276698.1:c.-1020C>G, NM_001276699.1:c.-1020C=, NM_001276699.1:c.-1020C>A, NM_001276699.1:c.-1020C>G, NM_001276760.1:c.98C=, NM_001276760.1:c.98C>A, NM_001276760.1:c.98C>G, NM_001276761.1:c.98C=, NM_001276761.1:c.98C>A, NM_001276761.1:c.98C>G, NP_000537.3:p.Pro72=, NP_000537.3:p.Pro72Arg, NP_000537.3:p.Pro72His, NP_001119584.1:p.Pro72=, NP_001119584.1:p.Pro72Arg, NP_001119584.1:p.Pro72His, NP_001119585.1:p.Pro72=, NP_001119585.1:p.Pro72Arg, NP_001119585.1:p.Pro72His, NP_001119586.1:p.Pro72=, NP_001119586.1:p.Pro72Arg, NP_001119586.1:p.Pro72His, NP_001119590.1:p.Pro33=, NP_001119590.1:p.Pro33Arg, NP_001119590.1:p.Pro33His, NP_001263624.1:p.Pro33=, NP_001263624.1:p.Pro33Arg, NP_001263624.1:p.Pro33His, NP_001263625.1:p.Pro33=, NP_001263625.1:p.Pro33Arg, NP_001263625.1:p.Pro33His, NP_001263689.1:p.Pro33=, NP_001263689.1:p.Pro33Arg, NP_001263689.1:p.Pro33His, NP_001263690.1:p.Pro33=, NP_001263690.1:p.Pro33Arg, NP_001263690.1:p.Pro33His, XM_005256778.1:c.176-21C=, XM_005256778.1:c.176-21C>A, XM_005256778.1:c.176-21C>G, XR_243565.1:n.354C=, XR_243565.1:n.354C>A, XR_243565.1:n.354C>G, XR_243566.1:n.354C=, XR_243566.1:n.354C>A, XR_243566.1:n.354C>G, rs17844988, rs17857747, rs17882155, rs2229076, rs3174747, rs4134781, rs60388830
G > C
SNP
P72R
No VIP available No Clinical Annotations available VA
rs10434 NC_000006.11:g.43753212A>G, NC_000006.12:g.43785475A>G, NG_008732.1:g.20260A>G, NM_001025366.2:c.*913A>G, NM_001025367.2:c.*913A>G, NM_001025368.2:c.*913A>G, NM_001025369.2:c.*929A>G, NM_001025370.2:c.*913A>G, NM_001033756.2:c.*847A>G, NM_001171622.1:c.*913A>G, NM_001171623.1:c.*913A>G, NM_001171624.1:c.*913A>G, NM_001171625.1:c.*913A>G, NM_001171626.1:c.*913A>G, NM_001171627.1:c.*929A>G, NM_001171628.1:c.*913A>G, NM_001171629.1:c.*847A>G, NM_001171630.1:c.*913A>G, NM_001204384.1:c.*913A>G, NM_001204385.1:c.*913A>G, NM_001287044.1:c.*913A>G, NM_001317010.1:c.*847A>G, NM_003376.5:c.*913A>G, XM_005249363.1:c.*913A>G, rs3173233, rs60316096
A > G
SNP
No VIP available CA VA
rs1045642 NC_000007.13:g.87138645A>G, NC_000007.14:g.87509329A>G, NG_011513.1:g.208920T>C, NM_000927.4:c.3435T>C, NP_000918.2:p.Ile1145=, rs10239679, rs11568726, rs117328163, rs17210003, rs2229108, rs386513066, rs60023214, rs9690664
A > G
SNP
I1145I
No VIP available CA VA
rs1047840 NC_000001.10:g.242042301G>A, NC_000001.11:g.241878999G>A, NG_029100.1:g.35809G>A, NM_001319224.1:c.1762G>A, NM_003686.4:c.1765G>A, NM_006027.4:c.1765G>A, NM_130398.3:c.1765G>A, NP_001306153.1:p.Glu588Lys, NP_003677.4:p.Glu589Lys, NP_006018.4:p.Glu589Lys, NP_569082.2:p.Glu589Lys, XM_005273350.1:c.1762G>A, XM_005273350.2:c.1762G>A, XM_006711840.1:c.1765G>A, XM_011544321.1:c.1765G>A, XM_011544322.1:c.1765G>A, XM_011544323.1:c.1762G>A, XM_011544324.1:c.1645G>A, XM_011544325.1:c.802G>A, XM_011544326.1:c.*224G>A, XP_005273407.1:p.Glu588Lys, XP_006711903.1:p.Glu589Lys, XP_011542623.1:p.Glu589Lys, XP_011542624.1:p.Glu589Lys, XP_011542625.1:p.Glu588Lys, XP_011542626.1:p.Glu549Lys, XP_011542627.1:p.Glu268Lys, XR_949162.1:n.2350G>A, rs12734501, rs16842258, rs3187846, rs52829990, rs56561721, rs59734256
G > A
SNP
E588K
No VIP available No Clinical Annotations available VA
rs1051266 NC_000021.8:g.46957794T>C, NC_000021.9:g.45537880T>C, NG_028278.1:g.9592A>G, NM_001205206.1:c.80A>G, NM_194255.2:c.80A>G, NP_001192135.1:p.His27Arg, NP_919231.1:p.His27Arg, XM_005261163.1:c.80A>G, XM_005261164.1:c.-279A>G, XM_005261164.2:c.-279A>G, XM_011529696.1:c.371A>G, XM_011529697.1:c.371A>G, XM_011529698.1:c.146A>G, XM_011529699.1:c.-1639A>G, XM_011529700.1:c.80A>G, XM_011529701.1:c.80A>G, XM_011529702.1:c.80A>G, XM_011529703.1:c.80A>G, XM_011529704.1:c.80A>G, XM_011529705.1:c.371A>G, XM_011529707.1:c.371A>G, XM_011529708.1:c.80A>G, XM_011529709.1:c.-279A>G, XM_011529710.1:c.-165-5732A>G, XP_005261220.1:p.His27Arg, XP_011527998.1:p.His124Arg, XP_011527999.1:p.His124Arg, XP_011528000.1:p.His49Arg, XP_011528002.1:p.His27Arg, XP_011528003.1:p.His27Arg, XP_011528004.1:p.His27Arg, XP_011528005.1:p.His27Arg, XP_011528006.1:p.His27Arg, XP_011528007.1:p.His124Arg, XP_011528009.1:p.His124Arg, XP_011528010.1:p.His27Arg, rs17844977, rs17857726, rs3171496, rs386514057, rs61510559
T > C
SNP
H27R
No VIP available No Clinical Annotations available VA
rs10517 NC_000016.10:g.69709857A>G, NC_000016.9:g.69743760A>G, NG_011504.1:g.21774T>C, NM_000903.2:c.*1119T>C, NM_001025433.1:c.*1119T>C, NM_001025434.1:c.*1119T>C, NM_001286137.1:c.*1119T>C, XM_005255830.1:c.*1119T>C, rs1131357, rs3191227, rs386514164, rs60683463
A > G
SNP
No VIP available CA VA
rs1056515 NC_000001.10:g.163113260G>T, NC_000001.11:g.163143470G>T, NG_027731.2:g.183322C>A, NM_001195303.2:c.*3872C>A, NM_001254748.1:c.*3872C>A, NM_001254749.1:c.*3872C>A, NM_003617.3:c.*3872C>A, rs111183181, rs386514407, rs58775087, rs59069797
G > T
SNP
No VIP available CA VA
rs1056836 NC_000002.11:g.38298203C>G, NC_000002.12:g.38071060G=, NG_008386.2:g.10042C=, NG_008386.2:g.10042C>G, NM_000104.3:c.1294C=, NM_000104.3:c.1294C>G, NP_000095.2:p.Leu432=, NP_000095.2:p.Leu432Val, rs17405323, rs3731848, rs52802961, rs59494749
C > G
SNP
L432V
No VIP available No Clinical Annotations available VA
rs1059829 NC_000005.10:g.151662468G>A, NC_000005.9:g.151042029G>A, NG_042174.1:g.29587C>T, NM_001309443.1:c.*1103C>T, NM_001309444.1:c.*987C>T, NM_003118.3:c.*1103C>T, rs17718221, rs1804457, rs3210713, rs3822701, rs59831535
G > A
SNP
No VIP available No Clinical Annotations available VA
rs1063320 NC_000006.11:g.29798749C=, NC_000006.11:g.29798749C>G, NC_000006.12:g.29830972C=, NC_000006.12:g.29830972C>G, NG_029039.1:g.8994C=, NG_029039.1:g.8994C>G, NM_002127.5:c.*233C=, NM_002127.5:c.*233C>G, NT_113891.3:g.1314548G=, NT_113891.3:g.1314548G>C, NT_167244.2:g.1096598G=, NT_167244.2:g.1096598G>C, NT_167245.1:g.1099370C=, NT_167245.1:g.1099370C>G, NT_167245.2:g.1093785C=, NT_167245.2:g.1093785C>G, NT_167246.1:g.1099078C=, NT_167246.1:g.1099078C>G, NT_167246.2:g.1093458C=, NT_167246.2:g.1093458C>G, NT_167247.1:g.1099028C=, NT_167247.1:g.1099028C>G, NT_167247.2:g.1093443C=, NT_167247.2:g.1093443C>G, NT_167248.2:g.1093752G=, NT_167248.2:g.1093752G>C, NT_167249.2:g.1137017G=, NT_167249.2:g.1137017G>C, XM_005249055.1:c.*233C=, XM_005249055.1:c.*233C>G, XM_005249056.1:c.*233C>G, XM_005249056.1:c.*233G>C, XM_005249057.1:c.*448C>G, XM_005249057.1:c.*448G>C, XM_005249058.1:c.*233C=, XM_005249058.1:c.*233C>G, XM_005272810.1:c.*247G=, XM_005272810.1:c.*247G>C, XM_005274964.1:c.*233C=, XM_005274964.1:c.*233C>G, XM_005274965.1:c.*233C=, XM_005274965.1:c.*233C>G, XM_005274966.1:c.*448C>G, XM_005274966.1:c.*448G>C, XM_005274967.1:c.*233C=, XM_005274967.1:c.*233C>G, XM_005275119.1:c.*233C=, XM_005275119.1:c.*233C>G, XM_005275120.1:c.*233C>G, XM_005275120.1:c.*233G>C, XM_005275121.1:c.*448C>G, XM_005275121.1:c.*448G>C, XM_005275122.1:c.*233C>G, XM_005275122.1:c.*233G>C, XM_005275246.1:c.*233C=, XM_005275246.1:c.*233C>G, XM_005275247.1:c.*233C=, XM_005275247.1:c.*233C>G, XM_005275248.1:c.*448C>G, XM_005275248.1:c.*448G>C, XM_005275249.1:c.*233C=, XM_005275249.1:c.*233C>G, XM_005275394.1:c.*247G=, XM_005275394.1:c.*247G>C, XM_005275549.1:c.*247G=, XM_005275549.1:c.*247G>C, XM_005275550.1:c.*247C>G, XM_005275550.1:c.*247G>C, XM_005275551.1:c.*462C>G, XM_005275551.1:c.*462G>C, XM_005275552.1:c.*247G=, XM_005275552.1:c.*247G>C, XM_011547651.1:c.*233C=, XM_011547651.1:c.*233C>G, XM_011547882.1:c.*233C=, XM_011547882.1:c.*233C>G, XM_011548048.1:c.*233C=, XM_011548048.1:c.*233C>G, XM_011548236.1:c.*247G=, XM_011548236.1:c.*247G>C, XM_011548237.1:c.*247G=, XM_011548237.1:c.*247G>C, XM_011548430.1:c.*247G=, XM_011548430.1:c.*247G>C, XM_011548431.1:c.*247G=, XM_011548431.1:c.*247G>C, XR_241896.1:n.1859C=, XR_241896.1:n.1859C>G, XR_246963.1:n.1793G=, XR_246963.1:n.1793G>C, XR_247353.1:n.1859C=, XR_247353.1:n.1859C>G, XR_247370.1:n.1859C=, XR_247370.1:n.1859C>G, XR_247389.1:n.1859C=, XR_247389.1:n.1859C>G, XR_247402.1:n.1793G=, XR_247402.1:n.1793G>C, XR_247423.1:n.1851G=, XR_247423.1:n.1851G>C, rs115928989, rs117512550, rs1632929, rs16867727, rs17185496, rs3204385, rs386485817, rs58677621, rs9258500
C > C
C > G
SNP
No VIP available No Clinical Annotations available VA
rs10784749 NC_000012.11:g.69422029C>G, NC_000012.12:g.69028249C>G, rs58473609
C > G
SNP
No VIP available No Clinical Annotations available VA
rs10876844 NC_000012.11:g.56050706C>A, NC_000012.12:g.55656922C>A, XM_011538339.1:c.-700+2791G>T, rs61345690
C > A
SNP
No VIP available CA VA
rs10937158 NC_000003.11:g.183708439T>C, NC_000003.12:g.183990651T>C, NM_001023587.2:c.130-1268A>G, NM_001320032.1:c.-1402-1268A>G, NM_005688.3:c.130-1268A>G, NR_135125.1:n.316-1268A>G, XM_005247058.1:c.130-1268A>G, XM_005247058.3:c.130-1268A>G, XM_005247059.1:c.130-1268A>G, XM_005247059.3:c.130-1268A>G, XM_005247060.1:c.130-1268A>G, XM_005247061.1:c.130-1268A>G, XM_005247062.1:c.-1402-1268A>G, XM_011512314.1:c.130-1268A>G, XM_011512315.1:c.130-1268A>G, XM_011512316.1:c.-1402-1268A>G
T > C
SNP
No VIP available No Clinical Annotations available VA
rs111858276 NC_000001.10:g.98015156T>C, NC_000001.11:g.97549600T>C, NG_008807.2:g.376460A>G, NM_000110.3:c.1484A>G, NP_000101.2:p.Asp495Gly, XM_005270561.1:c.1373A>G, XM_005270562.1:c.1484A>G, XM_005270562.3:c.1484A>G, XM_005270563.1:c.1484A>G, XM_005270564.1:c.1484A>G, XM_006710397.2:c.1484A>G, XP_005270618.1:p.Asp458Gly, XP_005270619.1:p.Asp495Gly, XP_005270619.2:p.Asp495Gly, XP_005270620.1:p.Asp495Gly, XP_005270621.1:p.Asp495Gly, XP_006710460.1:p.Asp495Gly
T > C
SNP
D495G
No VIP available No Clinical Annotations available VA
rs112445441 NC_000012.11:g.25398281C>A, NC_000012.11:g.25398281C>G, NC_000012.11:g.25398281C>T, NC_000012.12:g.25245347C>A, NC_000012.12:g.25245347C>G, NC_000012.12:g.25245347C>T, NG_007524.1:g.10574G>A, NG_007524.1:g.10574G>C, NG_007524.1:g.10574G>T, NM_004985.4:c.38G>A, NM_004985.4:c.38G>C, NM_004985.4:c.38G>T, NM_033360.3:c.38G>A, NM_033360.3:c.38G>C, NM_033360.3:c.38G>T, NP_004976.2:p.Gly13Ala, NP_004976.2:p.Gly13Asp, NP_004976.2:p.Gly13Val, NP_203524.1:p.Gly13Ala, NP_203524.1:p.Gly13Asp, NP_203524.1:p.Gly13Val, XM_005253365.1:c.38G>A, XM_005253365.1:c.38G>C, XM_005253365.1:c.38G>T, XM_006719069.2:c.38G>A, XM_006719069.2:c.38G>C, XM_006719069.2:c.38G>T, XM_011520653.1:c.38G>A, XM_011520653.1:c.38G>C, XM_011520653.1:c.38G>T, XP_005253422.1:p.Gly13Ala, XP_005253422.1:p.Gly13Asp, XP_005253422.1:p.Gly13Val, XP_006719132.1:p.Gly13Ala, XP_006719132.1:p.Gly13Asp, XP_006719132.1:p.Gly13Val, XP_011518955.1:p.Gly13Ala, XP_011518955.1:p.Gly13Asp, XP_011518955.1:p.Gly13Val
C > A
C > G
C > T
SNP
G13A/D/V
No VIP available No Clinical Annotations available VA
rs112723255 NC_000022.10:g.50964255C>T, NC_000022.11:g.50525826C>T, NG_011860.1:g.9260G>A, NG_016235.1:g.5614G>A, NG_021419.1:g.22611C>T, NM_001113755.2:c.1393G>A, NM_001113756.2:c.1393G>A, NM_001169109.1:c.-14+420G>A, NM_001169110.1:c.-14+175G>A, NM_001169111.1:c.-398G>A, NM_001257988.1:c.1393G>A, NM_001257989.1:c.1408G>A, NM_001953.4:c.1393G>A, NM_005138.2:c.-368G>A, NP_001107227.1:p.Ala465Thr, NP_001107228.1:p.Ala465Thr, NP_001244917.1:p.Ala465Thr, NP_001244918.1:p.Ala470Thr, NP_001944.1:p.Ala465Thr
C > T
SNP
A465T
No VIP available No Clinical Annotations available VA
rs1127648 NC_000015.10:g.75674754A>G, NC_000015.9:g.75967095A>G, NM_001897.4:c.*796T>C, rs17591523, rs3183827, rs59364090
A > G
SNP
No VIP available No Clinical Annotations available VA
rs112766203 NC_000001.10:g.97770835G>A, NC_000001.10:g.97770835G>C, NC_000001.11:g.97305279G>A, NC_000001.11:g.97305279G>C, NG_008807.2:g.620781C>G, NG_008807.2:g.620781C>T, NM_000110.3:c.2279C>G, NM_000110.3:c.2279C>T, NP_000101.2:p.Thr760Ile, NP_000101.2:p.Thr760Ser, NR_046590.1:n.129-910G>A, NR_046590.1:n.129-910G>C, XM_005270561.1:c.2168C>G, XM_005270561.1:c.2168C>T, XM_005270562.1:c.2063C>G, XM_005270562.1:c.2063C>T, XM_005270562.3:c.2063C>G, XM_005270562.3:c.2063C>T, XM_005270563.1:c.2279C>G, XM_005270563.1:c.2279C>T, XM_006710397.2:c.2279C>G, XM_006710397.2:c.2279C>T, XP_005270618.1:p.Thr723Ile, XP_005270618.1:p.Thr723Ser, XP_005270619.1:p.Thr688Ile, XP_005270619.1:p.Thr688Ser, XP_005270619.2:p.Thr688Ile, XP_005270619.2:p.Thr688Ser, XP_005270620.1:p.Thr760Ile, XP_005270620.1:p.Thr760Ser, XP_006710460.1:p.Thr760Ile, XP_006710460.1:p.Thr760Ser
G > A
G > C
SNP
T760I/S
No VIP available No Clinical Annotations available VA
rs1128503 NC_000007.13:g.87179601A>G, NC_000007.14:g.87550285A>G, NG_011513.1:g.167964T>C, NM_000927.4:c.1236T>C, NP_000918.2:p.Gly412=, rs116989428, rs17276907, rs2032587, rs2229105, rs28365046, rs386518005, rs58257317
A > G
SNP
G412G
No VIP available No Clinical Annotations available VA
rs1138272 NC_000011.10:g.67586108C>T, NC_000011.9:g.67353579C>T, NG_012075.1:g.7514C>T, NM_000852.3:c.341C>T, NP_000843.1:p.Ala114Val, XM_005273958.1:c.338C>T, XP_005274015.1:p.Ala113Val, rs11553894, rs17434783, rs1799811, rs1804665, rs3202011, rs4134657, rs52800258, rs61323549
C > T
SNP
A114V
No VIP available No Clinical Annotations available VA
rs114096998 NC_000001.10:g.97544543G>A, NC_000001.10:g.97544543G>C, NC_000001.10:g.97544543G>T, NC_000001.11:g.97078987G>A, NC_000001.11:g.97078987G>C, NC_000001.11:g.97078987G>T, NG_008807.2:g.847073C>A, NG_008807.2:g.847073C>G, NG_008807.2:g.847073C>T, NM_000110.3:c.3067C>A, NM_000110.3:c.3067C>G, NM_000110.3:c.3067C>T, NP_000101.2:p.Pro1023Ala, NP_000101.2:p.Pro1023Ser, NP_000101.2:p.Pro1023Thr, XM_005270561.1:c.2956C>A, XM_005270561.1:c.2956C>G, XM_005270561.1:c.2956C>T, XM_005270562.1:c.2851C>A, XM_005270562.1:c.2851C>G, XM_005270562.1:c.2851C>T, XM_005270562.3:c.2851C>A, XM_005270562.3:c.2851C>G, XM_005270562.3:c.2851C>T, XP_005270618.1:p.Pro986Ala, XP_005270618.1:p.Pro986Ser, XP_005270618.1:p.Pro986Thr, XP_005270619.1:p.Pro951Ala, XP_005270619.1:p.Pro951Ser, XP_005270619.1:p.Pro951Thr, XP_005270619.2:p.Pro951Ala, XP_005270619.2:p.Pro951Ser, XP_005270619.2:p.Pro951Thr, rs199469566
G > A
G > C
G > T
SNP
P1023A/S/T
No VIP available CA VA
rs11479 NC_000022.10:g.50964236G>A, NC_000022.11:g.50525807G>A, NG_011860.1:g.9279C>T, NG_016235.1:g.5633C>T, NG_021419.1:g.22592G>A, NM_001113755.2:c.1412C>T, NM_001113756.2:c.1412C>T, NM_001169109.1:c.-14+439C>T, NM_001169110.1:c.-14+194C>T, NM_001169111.1:c.-379C>T, NM_001257988.1:c.1412C>T, NM_001257989.1:c.1427C>T, NM_001953.4:c.1412C>T, NM_005138.2:c.-349C>T, NP_001107227.1:p.Ser471Leu, NP_001107228.1:p.Ser471Leu, NP_001244917.1:p.Ser471Leu, NP_001244918.1:p.Ser476Leu, NP_001944.1:p.Ser471Leu, rs17846490, rs17859554, rs3202233, rs3829983
G > A
SNP
S471L
No VIP available CA VA
rs115232898 NC_000001.10:g.98165030T>C, NC_000001.11:g.97699474T>C, NG_008807.2:g.226586A>G, NM_000110.3:c.557A>G, NP_000101.2:p.Tyr186Cys, XM_005270561.1:c.446A>G, XM_005270562.1:c.557A>G, XM_005270562.3:c.557A>G, XM_005270563.1:c.557A>G, XM_005270564.1:c.557A>G, XM_006710397.2:c.557A>G, XP_005270618.1:p.Tyr149Cys, XP_005270619.1:p.Tyr186Cys, XP_005270619.2:p.Tyr186Cys, XP_005270620.1:p.Tyr186Cys, XP_005270621.1:p.Tyr186Cys, XP_006710460.1:p.Tyr186Cys, rs199469520
T > C
SNP
Y186C
No VIP available No Clinical Annotations available VA
rs115349832
A > C
A > G
SNP
No VIP available CA VA
rs115632870 NC_000001.10:g.98293821C>T, NC_000001.11:g.97828265C>T, NG_008807.2:g.97795G>A, NM_000110.3:c.151-69G>A, NM_001160301.1:c.151-69G>A, XM_005270561.1:c.40-69G>A, XM_005270562.1:c.151-69G>A, XM_005270562.3:c.151-69G>A, XM_005270563.1:c.151-69G>A, XM_005270564.1:c.151-69G>A, XM_006710397.2:c.151-69G>A, rs199469511
C > T
SNP
No VIP available CA VA
rs11615 NC_000019.10:g.45420395A>G, NC_000019.9:g.45923653A>G, NG_015839.2:g.63434T>C, NM_001166049.1:c.354T>C, NM_001983.3:c.354T>C, NM_202001.2:c.354T>C, NP_001159521.1:p.Asn118=, NP_001974.1:p.Asn118=, NP_973730.1:p.Asn118=, XM_005258634.1:c.354T>C, XM_005258635.1:c.354T>C, XM_005258635.2:c.354T>C, XM_005258636.1:c.354T>C, XM_005258636.3:c.354T>C, XM_005258637.1:c.354T>C, XM_005258638.1:c.138T>C, XM_011526610.1:c.354T>C, XP_005258691.1:p.Asn118=, XP_005258692.1:p.Asn118=, XP_005258693.1:p.Asn118=, XP_005258694.1:p.Asn118=, XP_005258695.1:p.Asn46=, XP_011524912.1:p.Asn118=, rs1130005, rs17285882, rs17359303, rs17845191, rs17858003, rs17859564, rs2228629, rs3177700, rs3188446, rs3752251, rs59923575
A > G
SNP
N118N
No VIP available No Clinical Annotations available VA
rs11671784 NC_000019.10:g.13836482G>A, NC_000019.9:g.13947296G>A, NR_029495.1:n.178C>T, NR_029497.1:n.-123C>T, NR_029501.1:n.36C>T, NR_036515.1:n.-193C>T
G > A
SNP
No VIP available CA VA
rs12613732 NC_000002.11:g.31249427T>G, NC_000002.12:g.31026561T>G, NM_001253826.1:c.315-60259A>C, NM_001253827.1:c.70-33554A>C, NM_024572.3:c.130-33554A>C, NR_045602.1:n.903-33554A>C, XM_005264559.1:c.25-33554A>C, XM_011533104.1:c.448-33554A>C, XM_011533105.1:c.70-33554A>C, XM_011533106.1:c.43-33554A>C, rs17393634, rs56739826, rs58514179
T > G
SNP
No VIP available CA VA
rs12659 NC_000021.8:g.46951556A>G, NC_000021.9:g.45531642A>G, NG_028278.1:g.15830T>C, NM_001205206.1:c.696T>C, NM_001205207.1:c.576T>C, NM_194255.2:c.696T>C, NP_001192135.1:p.Pro232=, NP_001192136.1:p.Pro192=, NP_919231.1:p.Pro232=, XM_005261163.1:c.696T>C, XM_005261164.1:c.342T>C, XM_005261164.2:c.342T>C, XM_011529696.1:c.987T>C, XM_011529697.1:c.987T>C, XM_011529698.1:c.762T>C, XM_011529699.1:c.723T>C, XM_011529700.1:c.696T>C, XM_011529701.1:c.696T>C, XM_011529702.1:c.696T>C, XM_011529703.1:c.696T>C, XM_011529704.1:c.696T>C, XM_011529705.1:c.987T>C, XM_011529706.1:c.558T>C, XM_011529707.1:c.987T>C, XM_011529708.1:c.696T>C, XM_011529709.1:c.342T>C, XM_011529710.1:c.342T>C, XP_005261220.1:p.Pro232=, XP_005261221.1:p.Pro114=, XP_011527998.1:p.Pro329=, XP_011527999.1:p.Pro329=, XP_011528000.1:p.Pro254=, XP_011528001.1:p.Pro241=, XP_011528002.1:p.Pro232=, XP_011528003.1:p.Pro232=, XP_011528004.1:p.Pro232=, XP_011528005.1:p.Pro232=, XP_011528006.1:p.Pro232=, XP_011528007.1:p.Pro329=, XP_011528008.1:p.Pro186=, XP_011528009.1:p.Pro329=, XP_011528010.1:p.Pro232=, XP_011528011.1:p.Pro114=, XP_011528012.1:p.Pro114=, rs17844976, rs17857725, rs3171495
A > G
SNP
P232P
No VIP available No Clinical Annotations available VA
rs12999804 NC_000002.11:g.31245650A>T, NC_000002.12:g.31022784A>T, NM_001253826.1:c.315-56482T>A, NM_001253827.1:c.70-29777T>A, NM_024572.3:c.130-29777T>A, NR_045602.1:n.903-29777T>A, XM_005264559.1:c.25-29777T>A, XM_011533104.1:c.448-29777T>A, XM_011533105.1:c.70-29777T>A, XM_011533106.1:c.43-29777T>A, rs58546060, rs59591816
A > T
SNP
No VIP available CA VA
rs13181 NC_000019.10:g.45351661T>G, NC_000019.9:g.45854919T>G, NG_007067.2:g.23927A>C, NM_000400.3:c.2251A>C, NM_177417.2:c.*304T>G, NP_000391.1:p.Lys751Gln, XM_005258536.1:c.*128T>G, XM_005258536.3:c.*128T>G, XM_005258537.1:c.*128T>G, XM_005258538.1:c.*304T>G, XM_005258539.1:c.*304T>G, XM_005258639.1:c.2179A>C, XM_005258640.1:c.2017A>C, XM_005258641.1:c.1513A>C, XM_011526611.1:c.2173A>C, XP_005258696.1:p.Lys727Gln, XP_005258697.1:p.Lys673Gln, XP_005258698.1:p.Lys505Gln, XP_011524913.1:p.Lys725Gln, rs1052559, rs17285142, rs17355147, rs17359310, rs3170171, rs3859422, rs60606175
T > G
SNP
K751Q
No VIP available No Clinical Annotations available VA
rs137999090 NC_000001.10:g.97839154C>T, NC_000001.11:g.97373598C>T, NG_008807.2:g.552462G>A, NM_000110.3:c.2021G>A, NP_000101.2:p.Gly674Asp, XM_005270561.1:c.1910G>A, XM_005270562.1:c.1805G>A, XM_005270562.3:c.1805G>A, XM_005270563.1:c.2021G>A, XM_006710397.2:c.2021G>A, XP_005270618.1:p.Gly637Asp, XP_005270619.1:p.Gly602Asp, XP_005270619.2:p.Gly602Asp, XP_005270620.1:p.Gly674Asp, XP_006710460.1:p.Gly674Asp, XR_947619.1:n.1125-1930C>T, XR_947620.1:n.1124+6397C>T, XR_947621.1:n.1125-1930C>T
C > T
SNP
G674D
No VIP available No Clinical Annotations available VA
rs138391898
C > T
SNP
V507I
No VIP available No Clinical Annotations available VA
rs138545885
C > A
SNP
A664S
No VIP available No Clinical Annotations available VA
rs138616379 NC_000001.10:g.97915745C>T, NC_000001.11:g.97450189C>T, NG_008807.2:g.475871G>A, NM_000110.3:c.1775G>A, NP_000101.2:p.Arg592Gln, XM_005270561.1:c.1664G>A, XM_005270562.1:c.1559G>A, XM_005270562.3:c.1559G>A, XM_005270563.1:c.1775G>A, XM_006710397.2:c.1775G>A, XP_005270618.1:p.Arg555Gln, XP_005270619.1:p.Arg520Gln, XP_005270619.2:p.Arg520Gln, XP_005270620.1:p.Arg592Gln, XP_006710460.1:p.Arg592Gln
C > T
SNP
R592Q
No VIP available No Clinical Annotations available VA
rs139459586
A > C
SNP
L993R
No VIP available No Clinical Annotations available VA
rs139834141
C > T
SNP
M166I
No VIP available No Clinical Annotations available VA
rs140114515
C > T
SNP
V1017I
No VIP available No Clinical Annotations available VA
rs140602333
G > A
G > T
SNP
R394R/W
No VIP available No Clinical Annotations available VA
rs141044036 NC_000001.10:g.97547921T>C, NC_000001.11:g.97082365T>C, NG_008807.2:g.843695A>G, NM_000110.3:c.2872A>G, NP_000101.2:p.Lys958Glu, XM_005270561.1:c.2761A>G, XM_005270562.1:c.2656A>G, XM_005270562.3:c.2656A>G, XP_005270618.1:p.Lys921Glu, XP_005270619.1:p.Lys886Glu, XP_005270619.2:p.Lys886Glu
T > C
SNP
K958E
No VIP available No Clinical Annotations available VA
rs141462178
T > C
SNP
M115V
No VIP available No Clinical Annotations available VA
rs142512579
C > T
SNP
D432N
No VIP available No Clinical Annotations available VA
rs142619737
C > G
C > T
SNP
G539R
No VIP available No Clinical Annotations available VA
rs143154602 NC_000001.10:g.98058845G>A, NC_000001.11:g.97593289G>A, NG_008807.2:g.332771C>T, NM_000110.3:c.1057C>T, NP_000101.2:p.Arg353Cys, XM_005270561.1:c.946C>T, XM_005270562.1:c.1057C>T, XM_005270562.3:c.1057C>T, XM_005270563.1:c.1057C>T, XM_005270564.1:c.1057C>T, XM_006710397.2:c.1057C>T, XP_005270618.1:p.Arg316Cys, XP_005270619.1:p.Arg353Cys, XP_005270619.2:p.Arg353Cys, XP_005270620.1:p.Arg353Cys, XP_005270621.1:p.Arg353Cys, XP_006710460.1:p.Arg353Cys
G > A
SNP
R353C
No VIP available No Clinical Annotations available VA
rs143815742
C > A
C > T
SNP
R394L/Q
No VIP available No Clinical Annotations available VA
rs143986398 NC_000001.10:g.98205995G>C, NC_000001.11:g.97740439G>C, NG_008807.2:g.185621C>G, NM_000110.3:c.274C>G, NM_001160301.1:c.274C>G, NP_000101.2:p.Pro92Ala, NP_001153773.1:p.Pro92Ala, XM_005270561.1:c.163C>G, XM_005270562.1:c.274C>G, XM_005270562.3:c.274C>G, XM_005270563.1:c.274C>G, XM_005270564.1:c.274C>G, XM_006710397.2:c.274C>G, XP_005270618.1:p.Pro55Ala, XP_005270619.1:p.Pro92Ala, XP_005270619.2:p.Pro92Ala, XP_005270620.1:p.Pro92Ala, XP_005270621.1:p.Pro92Ala, XP_006710460.1:p.Pro92Ala
G > C
SNP
P92A
No VIP available No Clinical Annotations available VA
rs144395748
G > C
G > T
SNP
P453R
No VIP available No Clinical Annotations available VA
rs145112791
G > A
SNP
L312F
No VIP available No Clinical Annotations available VA
rs145529148
T > C
SNP
Q972R
No VIP available No Clinical Annotations available VA
rs145548112
C > T
SNP
A721T
No VIP available No Clinical Annotations available VA
rs145773863 NC_000001.10:g.97915743C>T, NC_000001.11:g.97450187C>T, NG_008807.2:g.475873G>A, NM_000110.3:c.1777G>A, NP_000101.2:p.Gly593Arg, XM_005270561.1:c.1666G>A, XM_005270562.1:c.1561G>A, XM_005270562.3:c.1561G>A, XM_005270563.1:c.1777G>A, XM_006710397.2:c.1777G>A, XP_005270618.1:p.Gly556Arg, XP_005270619.1:p.Gly521Arg, XP_005270619.2:p.Gly521Arg, XP_005270620.1:p.Gly593Arg, XP_006710460.1:p.Gly593Arg
C > T
SNP
G593R
No VIP available No Clinical Annotations available VA
rs146356975 NC_000001.10:g.98060705T>C, NC_000001.11:g.97595149T>C, NG_008807.2:g.330911A>G, NM_000110.3:c.868A>G, NP_000101.2:p.Lys290Glu, XM_005270561.1:c.757A>G, XM_005270562.1:c.868A>G, XM_005270562.3:c.868A>G, XM_005270563.1:c.868A>G, XM_005270564.1:c.868A>G, XM_006710397.2:c.868A>G, XP_005270618.1:p.Lys253Glu, XP_005270619.1:p.Lys290Glu, XP_005270619.2:p.Lys290Glu, XP_005270620.1:p.Lys290Glu, XP_005270621.1:p.Lys290Glu, XP_006710460.1:p.Lys290Glu
T > C
SNP
K290E
No VIP available No Clinical Annotations available VA
rs146529561
G > A
SNP
A729V
No VIP available No Clinical Annotations available VA
rs147545709 NC_000001.10:g.97564155G>A, NC_000001.11:g.97098599G>A, NG_008807.2:g.827461C>T, NM_000110.3:c.2656C>T, NP_000101.2:p.Arg886Cys, NR_046590.1:n.64+2613G>A, XM_005270561.1:c.2545C>T, XM_005270562.1:c.2440C>T, XM_005270562.3:c.2440C>T, XP_005270618.1:p.Arg849Cys, XP_005270619.1:p.Arg814Cys, XP_005270619.2:p.Arg814Cys
G > A
SNP
R886C
No VIP available No Clinical Annotations available VA
rs147601618 NC_000001.10:g.97915724A>G, NC_000001.11:g.97450168A>G, NG_008807.2:g.475892T>C, NM_000110.3:c.1796T>C, NP_000101.2:p.Met599Thr, XM_005270561.1:c.1685T>C, XM_005270562.1:c.1580T>C, XM_005270562.3:c.1580T>C, XM_005270563.1:c.1796T>C, XM_006710397.2:c.1796T>C, XP_005270618.1:p.Met562Thr, XP_005270619.1:p.Met527Thr, XP_005270619.2:p.Met527Thr, XP_005270620.1:p.Met599Thr, XP_006710460.1:p.Met599Thr
A > G
SNP
M599T
No VIP available No Clinical Annotations available VA
rs148799944
C > G
SNP
V1021L
No VIP available No Clinical Annotations available VA
rs148994843
C > T
SNP
V515I
No VIP available No Clinical Annotations available VA
rs150036960
G > C
SNP
L16V
No VIP available No Clinical Annotations available VA
rs150385342
C > A
C > T
SNP
A105S
No VIP available No Clinical Annotations available VA
rs150437414
A > G
SNP
L310S
No VIP available No Clinical Annotations available VA
rs1610696 NC_000006.11:g.29798803C=, NC_000006.11:g.29798803C>G, NC_000006.12:g.29831026C=, NC_000006.12:g.29831026C>G, NG_029039.1:g.9048C=, NG_029039.1:g.9048C>G, NM_002127.5:c.*287C=, NM_002127.5:c.*287C>G, NT_113891.3:g.1314602G=, NT_113891.3:g.1314602G>C, NT_167244.2:g.1096652G=, NT_167244.2:g.1096652G>C, NT_167245.1:g.1099424C=, NT_167245.1:g.1099424C>G, NT_167245.2:g.1093839C=, NT_167245.2:g.1093839C>G, NT_167246.1:g.1099132C=, NT_167246.1:g.1099132C>G, NT_167246.2:g.1093512C=, NT_167246.2:g.1093512C>G, NT_167247.1:g.1099082C=, NT_167247.1:g.1099082C>G, NT_167247.2:g.1093497C=, NT_167247.2:g.1093497C>G, NT_167248.2:g.1093806G=, NT_167248.2:g.1093806G>C, NT_167249.2:g.1137071G=, NT_167249.2:g.1137071G>C, XM_005249055.1:c.*287C>G, XM_005249055.1:c.*287G>C, XM_005249056.1:c.*287C>G, XM_005249056.1:c.*287G>C, XM_005249057.1:c.*502C>G, XM_005249057.1:c.*502G>C, XM_005249058.1:c.*287C>G, XM_005249058.1:c.*287G>C, XM_005272810.1:c.*301C>G, XM_005272810.1:c.*301G>C, XM_005274964.1:c.*287C>G, XM_005274964.1:c.*287G>C, XM_005274965.1:c.*287C>G, XM_005274965.1:c.*287G>C, XM_005274966.1:c.*502C>G, XM_005274966.1:c.*502G>C, XM_005274967.1:c.*287C>G, XM_005274967.1:c.*287G>C, XM_005275119.1:c.*287C>G, XM_005275119.1:c.*287G>C, XM_005275120.1:c.*287C>G, XM_005275120.1:c.*287G>C, XM_005275121.1:c.*502C>G, XM_005275121.1:c.*502G>C, XM_005275122.1:c.*287C>G, XM_005275122.1:c.*287G>C, XM_005275246.1:c.*287C>G, XM_005275246.1:c.*287G>C, XM_005275247.1:c.*287C>G, XM_005275247.1:c.*287G>C, XM_005275248.1:c.*502C>G, XM_005275248.1:c.*502G>C, XM_005275249.1:c.*287C>G, XM_005275249.1:c.*287G>C, XM_005275394.1:c.*301C>G, XM_005275394.1:c.*301G>C, XM_005275549.1:c.*301C>G, XM_005275549.1:c.*301G>C, XM_005275550.1:c.*301C>G, XM_005275550.1:c.*301G>C, XM_005275551.1:c.*516C>G, XM_005275551.1:c.*516G>C, XM_005275552.1:c.*301G=, XM_005275552.1:c.*301G>C, XM_011547651.1:c.*287C>G, XM_011547651.1:c.*287G>C, XM_011547882.1:c.*287C=, XM_011547882.1:c.*287C>G, XM_011548048.1:c.*287C>G, XM_011548048.1:c.*287G>C, XM_011548236.1:c.*301C>G, XM_011548236.1:c.*301G>C, XM_011548237.1:c.*301C>G, XM_011548237.1:c.*301G>C, XM_011548430.1:c.*301C>G, XM_011548430.1:c.*301G>C, XM_011548431.1:c.*301C>G, XM_011548431.1:c.*301G>C, XR_241896.1:n.1913C>G, XR_241896.1:n.1913G>C, XR_246963.1:n.1847C>G, XR_246963.1:n.1847G>C, XR_247353.1:n.1913C>G, XR_247353.1:n.1913G>C, XR_247370.1:n.1913C>G, XR_247370.1:n.1913G>C, XR_247389.1:n.1913C>G, XR_247389.1:n.1913G>C, XR_247402.1:n.1847C>G, XR_247402.1:n.1847G>C, XR_247423.1:n.1905C>G, XR_247423.1:n.1905G>C, rs115045214, rs117220578, rs17185510
C > C
C > G
SNP
No VIP available No Clinical Annotations available VA
rs163182 NC_000011.10:g.2822986G>C, NC_000011.9:g.2844216G>C, NG_008935.1:g.382996G>C, NM_000218.2:c.1795-24781G>C, NM_181798.1:c.1414-24781G>C, NR_040711.2:n.1688-24781G>C, NT_187585.1:g.55173G>C, rs1176403, rs1182258, rs1182263, rs776659, rs800638
G > C
SNP
No VIP available No Clinical Annotations available VA
rs16857540 NC_000003.11:g.173900575C>G, NC_000003.12:g.174182785C>G, NM_014932.3:c.647-92530C>G, XM_005247231.1:c.767-92530C>G, XM_005247232.1:c.707-92530C>G, XM_005247233.1:c.707-92530C>G, XM_005247234.1:c.647-92530C>G, XM_005247235.1:c.647-92530C>G, XM_005247235.2:c.647-92530C>G, XM_005247236.1:c.647-92530C>G, XM_005247237.1:c.191-92530C>G, XM_005247237.2:c.191-92530C>G, XM_006713540.2:c.707-92530C>G, XM_011512551.1:c.707-92530C>G, XM_011512552.1:c.707-92530C>G, XM_011512553.1:c.-297+46205C>G, XM_011512554.1:c.-270+46205C>G, rs56587723, rs59949065, rs61398694
C > G
SNP
No VIP available CA VA
rs1695 NC_000011.10:g.67585218A>G, NC_000011.9:g.67352689A>G, NG_012075.1:g.6624A>G, NM_000852.3:c.313A>G, NP_000843.1:p.Ile105Val, XM_005273958.1:c.313A>G, XP_005274015.1:p.Ile105Val, rs1138257, rs11553891, rs17353321, rs17856342, rs2230827, rs4609, rs56971933, rs947894
A > G
SNP
I105V
No VIP available No Clinical Annotations available VA
rs1707 NC_000006.11:g.29798610C=, NC_000006.11:g.29798610C>T, NC_000006.12:g.29830833C=, NC_000006.12:g.29830833C>T, NG_029039.1:g.8855C=, NG_029039.1:g.8855C>T, NM_002127.5:c.*94C=, NM_002127.5:c.*94C>T, NT_113891.3:g.1314409T=, NT_113891.3:g.1314409T>C, NT_167244.2:g.1096459T=, NT_167244.2:g.1096459T>C, NT_167245.1:g.1099231T=, NT_167245.1:g.1099231T>C, NT_167245.2:g.1093646T=, NT_167245.2:g.1093646T>C, NT_167246.1:g.1098939T=, NT_167246.1:g.1098939T>C, NT_167246.2:g.1093319T=, NT_167246.2:g.1093319T>C, NT_167247.1:g.1098889T=, NT_167247.1:g.1098889T>C, NT_167247.2:g.1093304T=, NT_167247.2:g.1093304T>C, NT_167248.2:g.1093613T=, NT_167248.2:g.1093613T>C, NT_167249.2:g.1136878T=, NT_167249.2:g.1136878T>C, XM_005249055.1:c.*94C=, XM_005249055.1:c.*94C>T, XM_005249056.1:c.*94C=, XM_005249056.1:c.*94C>T, XM_005249057.1:c.*309C>T, XM_005249057.1:c.*309T>C, XM_005249058.1:c.*94C=, XM_005249058.1:c.*94C>T, XM_005272810.1:c.*108T=, XM_005272810.1:c.*108T>C, XM_005274964.1:c.*94T=, XM_005274964.1:c.*94T>C, XM_005274965.1:c.*94T=, XM_005274965.1:c.*94T>C, XM_005274966.1:c.*309C>T, XM_005274966.1:c.*309T>C, XM_005274967.1:c.*94T=, XM_005274967.1:c.*94T>C, XM_005275119.1:c.*94T=, XM_005275119.1:c.*94T>C, XM_005275120.1:c.*94T=, XM_005275120.1:c.*94T>C, XM_005275121.1:c.*309C>T, XM_005275121.1:c.*309T>C, XM_005275122.1:c.*94T=, XM_005275122.1:c.*94T>C, XM_005275246.1:c.*94T=, XM_005275246.1:c.*94T>C, XM_005275247.1:c.*94T=, XM_005275247.1:c.*94T>C, XM_005275248.1:c.*309C>T, XM_005275248.1:c.*309T>C, XM_005275249.1:c.*94T=, XM_005275249.1:c.*94T>C, XM_005275394.1:c.*108T=, XM_005275394.1:c.*108T>C, XM_005275549.1:c.*108T=, XM_005275549.1:c.*108T>C, XM_005275550.1:c.*108T=, XM_005275550.1:c.*108T>C, XM_005275551.1:c.*323C>T, XM_005275551.1:c.*323T>C, XM_005275552.1:c.*108T=, XM_005275552.1:c.*108T>C, XM_011547651.1:c.*94T=, XM_011547651.1:c.*94T>C, XM_011547882.1:c.*94T=, XM_011547882.1:c.*94T>C, XM_011548048.1:c.*94T=, XM_011548048.1:c.*94T>C, XM_011548236.1:c.*108T=, XM_011548236.1:c.*108T>C, XM_011548237.1:c.*108T=, XM_011548237.1:c.*108T>C, XM_011548430.1:c.*108T=, XM_011548430.1:c.*108T>C, XM_011548431.1:c.*108T=, XM_011548431.1:c.*108T>C, XR_241896.1:n.1720C=, XR_241896.1:n.1720C>T, XR_246963.1:n.1654T=, XR_246963.1:n.1654T>C, XR_247353.1:n.1720T=, XR_247353.1:n.1720T>C, XR_247370.1:n.1720T=, XR_247370.1:n.1720T>C, XR_247389.1:n.1720T=, XR_247389.1:n.1720T>C, XR_247402.1:n.1654T=, XR_247402.1:n.1654T>C, XR_247423.1:n.1712T=, XR_247423.1:n.1712T>C, rs113572485, rs115689421, rs117926242, rs1233332, rs1632931, rs17179087, rs17375406, rs57754052, rs75256208
C > C
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1710 NC_000006.11:g.29798617G=, NC_000006.11:g.29798617G>C, NC_000006.12:g.29830840G=, NC_000006.12:g.29830840G>C, NG_029039.1:g.8862G=, NG_029039.1:g.8862G>C, NM_002127.5:c.*101G=, NM_002127.5:c.*101G>C, NT_113891.3:g.1314416C=, NT_113891.3:g.1314416C>G, NT_167244.2:g.1096466C=, NT_167244.2:g.1096466C>G, NT_167245.1:g.1099238G=, NT_167245.1:g.1099238G>C, NT_167245.2:g.1093653G=, NT_167245.2:g.1093653G>C, NT_167246.1:g.1098946G=, NT_167246.1:g.1098946G>C, NT_167246.2:g.1093326G=, NT_167246.2:g.1093326G>C, NT_167247.1:g.1098896G=, NT_167247.1:g.1098896G>C, NT_167247.2:g.1093311G=, NT_167247.2:g.1093311G>C, NT_167248.2:g.1093620C=, NT_167248.2:g.1093620C>G, NT_167249.2:g.1136885C=, NT_167249.2:g.1136885C>G, XM_005249055.1:c.*101G=, XM_005249055.1:c.*101G>C, XM_005249056.1:c.*101G=, XM_005249056.1:c.*101G>C, XM_005249057.1:c.*316C>G, XM_005249057.1:c.*316G>C, XM_005249058.1:c.*101G=, XM_005249058.1:c.*101G>C, XM_005272810.1:c.*115C=, XM_005272810.1:c.*115C>G, XM_005274964.1:c.*101G=, XM_005274964.1:c.*101G>C, XM_005274965.1:c.*101G=, XM_005274965.1:c.*101G>C, XM_005274966.1:c.*316C>G, XM_005274966.1:c.*316G>C, XM_005274967.1:c.*101G=, XM_005274967.1:c.*101G>C, XM_005275119.1:c.*101G=, XM_005275119.1:c.*101G>C, XM_005275120.1:c.*101G=, XM_005275120.1:c.*101G>C, XM_005275121.1:c.*316C>G, XM_005275121.1:c.*316G>C, XM_005275122.1:c.*101G=, XM_005275122.1:c.*101G>C, XM_005275246.1:c.*101G=, XM_005275246.1:c.*101G>C, XM_005275247.1:c.*101G=, XM_005275247.1:c.*101G>C, XM_005275248.1:c.*316C>G, XM_005275248.1:c.*316G>C, XM_005275249.1:c.*101G=, XM_005275249.1:c.*101G>C, XM_005275394.1:c.*115C=, XM_005275394.1:c.*115C>G, XM_005275549.1:c.*115C=, XM_005275549.1:c.*115C>G, XM_005275550.1:c.*115C=, XM_005275550.1:c.*115C>G, XM_005275551.1:c.*330C>G, XM_005275551.1:c.*330G>C, XM_005275552.1:c.*115C=, XM_005275552.1:c.*115C>G, XM_011547651.1:c.*101G=, XM_011547651.1:c.*101G>C, XM_011547882.1:c.*101G=, XM_011547882.1:c.*101G>C, XM_011548048.1:c.*101G=, XM_011548048.1:c.*101G>C, XM_011548236.1:c.*115C=, XM_011548236.1:c.*115C>G, XM_011548237.1:c.*115C=, XM_011548237.1:c.*115C>G, XM_011548430.1:c.*115C=, XM_011548430.1:c.*115C>G, XM_011548431.1:c.*115C=, XM_011548431.1:c.*115C>G, XR_241896.1:n.1727G=, XR_241896.1:n.1727G>C, XR_246963.1:n.1661C=, XR_246963.1:n.1661C>G, XR_247353.1:n.1727G=, XR_247353.1:n.1727G>C, XR_247370.1:n.1727G=, XR_247370.1:n.1727G>C, XR_247389.1:n.1727G=, XR_247389.1:n.1727G>C, XR_247402.1:n.1661C=, XR_247402.1:n.1661C>G, XR_247423.1:n.1719C=, XR_247423.1:n.1719C>G, rs1049037, rs111577111, rs116152775, rs117391931, rs1632930, rs17179094, rs3189113, rs77969756
G > C
G > G
SNP
No VIP available CA VA
rs17109924 NC_000012.11:g.71977787T>C, NC_000012.12:g.71584007T>C, NM_001277226.1:c.1925T>C, NM_001277227.1:c.1781T>C, NM_003667.3:c.1997T>C, NP_001264155.1:p.Val642Ala, NP_001264156.1:p.Val594Ala, NP_003658.1:p.Val666Ala, NR_110596.1:n.2497+95T>C, XM_005269204.1:c.1775T>C, XM_005269204.3:c.1775T>C, XP_005269261.1:p.Val592Ala, rs56488504, rs58792571, rs61507334
T > C
SNP
V642A
No VIP available No Clinical Annotations available VA
rs17116806 NC_000001.10:g.97973252C>A, NC_000001.11:g.97507696C>A, NG_008807.2:g.418364G>T, NM_000110.3:c.1740+8030G>T, XM_005270561.1:c.1629+8030G>T, XM_005270562.1:c.1524+41864G>T, XM_005270562.3:c.1524+41864G>T, XM_005270563.1:c.1740+8030G>T, XM_006710397.2:c.1740+8030G>T, rs59151739
C > A
SNP
No VIP available CA VA
rs17160359 NC_000007.13:g.87346819G>T, NC_000007.14:g.87717503G>T, NG_011513.1:g.746C>A, NM_001134405.1:c.458+6848G>T, NM_001134406.1:c.458+6848G>T, NM_138290.2:c.509+6848G>T, XM_005250156.1:c.458+6848G>T, XM_005250156.2:c.458+6848G>T, XM_005250157.1:c.116+6848G>T, XM_005250158.1:c.98+6848G>T, XM_005250158.2:c.98+6848G>T, XM_011515826.1:c.509+6848G>T, XM_011515827.1:c.509+6848G>T, XM_011515828.1:c.116+6848G>T, XM_011515829.1:c.116+6848G>T
G > T
SNP
No VIP available No Clinical Annotations available VA
rs17179101 NC_000006.11:g.29798634C>A, NC_000006.12:g.29830857C>A, NG_029039.1:g.8879C>A, NM_002127.5:c.*118C>A, NT_113891.3:g.1314433C>A, NT_167244.2:g.1096483C>A, NT_167245.1:g.1099255C>A, NT_167245.2:g.1093670C>A, NT_167246.1:g.1098963C>A, NT_167246.2:g.1093343C>A, NT_167247.1:g.1098913C>A, NT_167247.2:g.1093328C>A, NT_167248.2:g.1093637C>A, NT_167249.2:g.1136902C>A, XM_005249055.1:c.*118C>A, XM_005249056.1:c.*118C>A, XM_005249057.1:c.*333C>A, XM_005249058.1:c.*118C>A, XM_005272810.1:c.*132C>A, XM_005274964.1:c.*118C>A, XM_005274965.1:c.*118C>A, XM_005274966.1:c.*333C>A, XM_005274967.1:c.*118C>A, XM_005275119.1:c.*118C>A, XM_005275120.1:c.*118C>A, XM_005275121.1:c.*333C>A, XM_005275122.1:c.*118C>A, XM_005275246.1:c.*118C>A, XM_005275247.1:c.*118C>A, XM_005275248.1:c.*333C>A, XM_005275249.1:c.*118C>A, XM_005275394.1:c.*132C>A, XM_005275549.1:c.*132C>A, XM_005275550.1:c.*132C>A, XM_005275551.1:c.*347C>A, XM_005275552.1:c.*132C>A, XM_011547651.1:c.*118C>A, XM_011547882.1:c.*118C>A, XM_011548048.1:c.*118C>A, XM_011548236.1:c.*132C>A, XM_011548237.1:c.*132C>A, XM_011548430.1:c.*132C>A, XM_011548431.1:c.*132C>A, XR_241896.1:n.1744C>A, XR_246963.1:n.1678C>A, XR_247353.1:n.1744C>A, XR_247370.1:n.1744C>A, XR_247389.1:n.1744C>A, XR_247402.1:n.1678C>A, XR_247423.1:n.1736C>A, rs115810666, rs118174970
C > A
SNP
No VIP available CA VA
rs17179108 NC_000006.11:g.29798642C>T, NC_000006.12:g.29830865C>T, NG_029039.1:g.8887C>T, NM_002127.5:c.*126C>T, NT_113891.3:g.1314441C>T, NT_167244.2:g.1096491C>T, NT_167245.1:g.1099263C>T, NT_167245.2:g.1093678C>T, NT_167246.1:g.1098971C>T, NT_167246.2:g.1093351C>T, NT_167247.1:g.1098921C>T, NT_167247.2:g.1093336C>T, NT_167248.2:g.1093645C>T, NT_167249.2:g.1136910C>T, XM_005249055.1:c.*126C>T, XM_005249056.1:c.*126C>T, XM_005249057.1:c.*341C>T, XM_005249058.1:c.*126C>T, XM_005272810.1:c.*140C>T, XM_005274964.1:c.*126C>T, XM_005274965.1:c.*126C>T, XM_005274966.1:c.*341C>T, XM_005274967.1:c.*126C>T, XM_005275119.1:c.*126C>T, XM_005275120.1:c.*126C>T, XM_005275121.1:c.*341C>T, XM_005275122.1:c.*126C>T, XM_005275246.1:c.*126C>T, XM_005275247.1:c.*126C>T, XM_005275248.1:c.*341C>T, XM_005275249.1:c.*126C>T, XM_005275394.1:c.*140C>T, XM_005275549.1:c.*140C>T, XM_005275550.1:c.*140C>T, XM_005275551.1:c.*355C>T, XM_005275552.1:c.*140C>T, XM_011547651.1:c.*126C>T, XM_011547882.1:c.*126C>T, XM_011548048.1:c.*126C>T, XM_011548236.1:c.*140C>T, XM_011548237.1:c.*140C>T, XM_011548430.1:c.*140C>T, XM_011548431.1:c.*140C>T, XR_241896.1:n.1752C>T, XR_246963.1:n.1686C>T, XR_247353.1:n.1752C>T, XR_247370.1:n.1752C>T, XR_247389.1:n.1752C>T, XR_247402.1:n.1686C>T, XR_247423.1:n.1744C>T, rs115100128, rs117118691, rs17875407
C > T
SNP
No VIP available No Clinical Annotations available VA
rs1734787 AJ132917.1:c.27-27438T>G, NC_000023.10:g.153325446A>C, NC_000023.11:g.154059995A>C, NG_007107.2:g.82133T>G, NM_001110792.1:c.63-27438T>G, NM_001316337.1:c.-421-1429T>G, NM_004992.3:c.27-27438T>G, NW_003871103.3:g.1493974A>C, XM_005274681.1:c.27-27438T>G, XM_005274681.3:c.27-27438T>G, XM_005274682.1:c.-365-20092T>G, XM_005274682.3:c.-365-20092T>G, XM_005274683.1:c.-2264T>G, XM_005274683.3:c.-2264T>G, XM_005277851.1:c.27-27438T>G, XM_005277852.1:c.-365-20092T>G, XM_005277853.1:c.-2264T>G, XM_011531165.1:c.-421-1429T>G, rs17332596, rs56534075, rs58354099, rs61248129
A > C
SNP
No VIP available No Clinical Annotations available VA
rs1734791 AJ132917.1:c.26+26722T>A, NC_000023.10:g.153330920A>T, NC_000023.11:g.154065469A>T, NG_007107.2:g.76659T>A, NM_001110792.1:c.62+32141T>A, NM_001316337.1:c.-421-6903T>A, NM_004992.3:c.26+26722T>A, NW_003871103.3:g.1499448A>T, XM_005274681.1:c.26+26722T>A, XM_005274681.3:c.26+26715T>A, XM_005274682.1:c.-365-25566T>A, XM_005274682.3:c.-365-25566T>A, XM_005277851.1:c.26+26715T>A, XM_005277852.1:c.-365-25566T>A, XM_011531165.1:c.-421-6903T>A, rs111178553, rs60889458
A > T
SNP
No VIP available CA VA
rs17376848 NC_000001.10:g.97915624A>G, NC_000001.11:g.97450068A>G, NG_008807.2:g.475992T>C, NM_000110.3:c.1896T>C, NP_000101.2:p.Phe632=, XM_005270561.1:c.1785T>C, XM_005270562.1:c.1680T>C, XM_005270562.3:c.1680T>C, XM_005270563.1:c.1896T>C, XM_006710397.2:c.1896T>C, XP_005270618.1:p.Phe595=, XP_005270619.1:p.Phe560=, XP_005270619.2:p.Phe560=, XP_005270620.1:p.Phe632=, XP_006710460.1:p.Phe632=, rs117467766, rs52815410, rs58485702
A > G
SNP
F632F
No VIP available CA VA
rs17431184 NC_000010.10:g.89720251T>C, NC_000010.11:g.87960494T>C, NG_007466.2:g.102056T>C, NM_000314.4:c.802-400T>C, NM_000314.6:c.802-400T>C, NM_001304717.2:c.1321-400T>C, NM_001304718.1:c.211-400T>C, XM_006717926.2:c.757-400T>C, XM_011539981.1:c.802-400T>C, XM_011539982.1:c.706-400T>C, XR_945791.1:n.1372-400T>C, rs60289874
T > C
SNP
No VIP available No Clinical Annotations available VA
rs17435 AJ132917.1:c.27-13972A>T, NC_000023.10:g.153311980T>A, NC_000023.11:g.154046529T>A, NG_007107.2:g.95599A>T, NM_001110792.1:c.63-13972A>T, NM_001316337.1:c.-254+11870A>T, NM_004992.3:c.27-13972A>T, NW_003871103.3:g.1480508T>A, XM_005274681.1:c.27-13972A>T, XM_005274681.3:c.27-13972A>T, XM_005274682.1:c.-365-6626A>T, XM_005274682.3:c.-365-6626A>T, XM_005274683.1:c.-254+10412A>T, XM_005274683.3:c.-254+10412A>T, XM_005277851.1:c.27-13972A>T, XM_005277852.1:c.-365-6626A>T, XM_005277853.1:c.-254+10412A>T, XM_011531165.1:c.-254+11870A>T, XM_011531166.1:c.-254+1988A>T, rs60248475, rs61484111
T > A
SNP
No VIP available CA VA
rs17626122 NC_000002.11:g.206474012T>C, NC_000002.12:g.205609288T>C, NM_001302769.1:c.3261-6168T>C, NM_057177.6:c.3054-6168T>C, NM_152526.5:c.3075-6168T>C, NM_205863.3:c.2958-6168T>C, XM_005246273.1:c.3261-6168T>C, XM_005246274.1:c.2664-6168T>C, XM_011510550.1:c.3321-908T>C, XM_011510551.1:c.3261-908T>C, XM_011510552.1:c.3285-6168T>C, rs56463399, rs57676795
T > C
SNP
No VIP available No Clinical Annotations available VA
rs17822471 NC_000016.10:g.48208468G>A, NC_000016.9:g.48242379G>A, NG_011522.1:g.31710C>T, NM_032583.3:c.1637C>T, NM_033151.3:c.1637C>T, NM_145186.2:c.1637C>T, NP_115972.2:p.Thr546Met, NP_149163.2:p.Thr546Met, NP_660187.1:p.Thr546Met, XM_005256208.1:c.1637C>T, XM_005256209.1:c.1637C>T, XM_005256210.1:c.1637C>T, XM_011523396.1:c.1439C>T, XM_011523397.1:c.680C>T, XP_005256265.1:p.Thr546Met, XP_005256266.1:p.Thr546Met, XP_005256267.1:p.Thr546Met, XP_011521698.1:p.Thr480Met, XP_011521699.1:p.Thr227Met, XR_243432.1:n.1742C>T, rs386492901, rs52810988, rs57560138
G > A
SNP
T546M
No VIP available No Clinical Annotations available VA
rs17822931 NC_000016.10:g.48224287C>T, NC_000016.9:g.48258198C>T, NG_011522.1:g.15891G>A, NM_032583.3:c.538G>A, NM_033151.3:c.538G>A, NM_145186.2:c.538G>A, NP_115972.2:p.Gly180Arg, NP_149163.2:p.Gly180Arg, NP_660187.1:p.Gly180Arg, XM_005256208.1:c.538G>A, XM_005256209.1:c.538G>A, XM_005256210.1:c.538G>A, XM_011523396.1:c.340G>A, XM_011523397.1:c.-1144G>A, XP_005256265.1:p.Gly180Arg, XP_005256266.1:p.Gly180Arg, XP_005256267.1:p.Gly180Arg, XP_011521698.1:p.Gly114Arg, XR_243432.1:n.643G>A, rs52813591, rs58140753
C > T
SNP
G180R
No VIP available No Clinical Annotations available VA
rs1799793 NC_000019.10:g.45364001C>T, NC_000019.9:g.45867259C>T, NG_007067.2:g.11587G>A, NM_000400.3:c.934G>A, NM_001130867.1:c.862G>A, NP_000391.1:p.Asp312Asn, NP_001124339.1:p.Asp288Asn, XM_005258639.1:c.862G>A, XM_005258640.1:c.700G>A, XM_005258641.1:c.196G>A, XM_005258642.1:c.934G>A, XM_011526611.1:c.856G>A, XP_005258696.1:p.Asp288Asn, XP_005258697.1:p.Asp234Asn, XP_005258698.1:p.Asp66Asn, XP_005258699.1:p.Asp312Asn, XP_011524913.1:p.Asp286Asn, XR_935763.1:n.981G>A, rs3916814, rs58989209
C > T
SNP
D312N
No VIP available No Clinical Annotations available VA
rs1799794 NC_000014.8:g.104179267T>C, NC_000014.9:g.103712930T>C, NG_011516.1:g.7557A>G, NM_001100118.1:c.-260-1363A>G, NM_001100119.1:c.-316A>G, NM_005432.3:c.-316A>G, XM_005268045.1:c.-316A>G, XM_005268046.1:c.-354-1269A>G, XM_005268047.1:c.-251A>G, XM_005268048.1:c.-260-1363A>G, XM_011537138.1:c.-316A>G, rs3212034
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1799895 NC_000004.11:g.24801834C>G, NC_000004.12:g.24800212C>G, NG_012213.1:g.9750C>G, NM_003102.2:c.691C>G, NP_003093.2:p.Arg231Gly, XR_427488.1:n.881C>G, XR_925483.1:n.1189G>C, rs8192292
C > G
SNP
R231G
No VIP available CA VA
rs1799983 NC_000007.13:g.150696111T>G, NC_000007.14:g.150999023T>G, NG_011992.1:g.12965T>G, NM_000603.4:c.894T>G, NM_001160109.1:c.894T>G, NM_001160110.1:c.894T>G, NM_001160111.1:c.894T>G, NP_000594.2:p.Asp298Glu, NP_001153581.1:p.Asp298Glu, NP_001153582.1:p.Asp298Glu, NP_001153583.1:p.Asp298Glu, XM_006716002.2:c.894T>G, XP_006716065.1:p.Asp298Glu, rs11266811, rs13238975, rs13305983, rs13308813, rs17173672, rs3730304, rs57135373
T > G
SNP
D298E
No VIP available CA VA
rs1800566 NC_000016.10:g.69711242G>A, NC_000016.9:g.69745145G>A, NG_011504.1:g.20389C>T, NM_000903.2:c.559C>T, NM_001025433.1:c.457C>T, NM_001025434.1:c.445C>T, NM_001286137.1:c.343C>T, NP_000894.1:p.Pro187Ser, NP_001020604.1:p.Pro153Ser, NP_001020605.1:p.Pro149Ser, NP_001273066.1:p.Pro115Ser, XM_005255830.1:c.343C>T, XP_005255887.1:p.Pro115Ser, rs4134727, rs4149351, rs57135274
G > A
SNP
P187S
No VIP available CA VA
rs1801019 NC_000003.11:g.124456742G>C, NC_000003.12:g.124737895G>C, NG_017037.1:g.12530G>C, NM_000373.3:c.638G>C, NP_000364.1:p.Gly213Ala, NR_033434.1:n.590G>C, NR_033437.1:n.843G>C, XM_005247741.1:c.362G>C, XM_005247742.1:c.104G>C, XM_005247743.1:c.124-20G>C, XM_005247744.1:c.104G>C, XP_005247798.1:p.Gly121Ala, XP_005247799.1:p.Gly35Ala, XP_005247801.1:p.Gly35Ala, rs17843818, rs199469590, rs3172286, rs3772805, rs52826107, rs58177968
G > C
SNP
G213A
No VIP available CA VA
rs1801131 NC_000001.10:g.11854476T>G, NC_000001.11:g.11794419T>G, NG_013351.1:g.16685A>C, NM_005957.4:c.1286A>C, NP_005948.3:p.Glu429Ala, XM_005263458.1:c.1409A>C, XM_005263458.2:c.1409A>C, XM_005263459.1:c.1355A>C, XM_005263460.1:c.1286A>C, XM_005263460.3:c.1286A>C, XM_005263461.1:c.1286A>C, XM_005263461.3:c.1286A>C, XM_005263462.1:c.1286A>C, XM_005263462.3:c.1286A>C, XM_005263463.1:c.1040A>C, XM_005263463.2:c.1040A>C, XM_011541495.1:c.1406A>C, XM_011541496.1:c.1409A>C, XP_005263515.1:p.Glu470Ala, XP_005263516.1:p.Glu452Ala, XP_005263517.1:p.Glu429Ala, XP_005263518.1:p.Glu429Ala, XP_005263519.1:p.Glu429Ala, XP_005263520.1:p.Glu347Ala, XP_011539797.1:p.Glu469Ala, XP_011539798.1:p.Glu470Ala, rs17367365, rs17857426, rs4134712
T > G
SNP
E429A
rs1801133 NC_000001.10:g.11856378G>A, NC_000001.11:g.11796321G>A, NG_013351.1:g.14783C>T, NM_005957.4:c.665C>T, NP_005948.3:p.Ala222Val, XM_005263458.1:c.788C>T, XM_005263458.2:c.788C>T, XM_005263459.1:c.734C>T, XM_005263460.1:c.665C>T, XM_005263460.3:c.665C>T, XM_005263461.1:c.665C>T, XM_005263461.3:c.665C>T, XM_005263462.1:c.665C>T, XM_005263462.3:c.665C>T, XM_005263463.1:c.419C>T, XM_005263463.2:c.419C>T, XM_011541495.1:c.785C>T, XM_011541496.1:c.788C>T, XP_005263515.1:p.Ala263Val, XP_005263516.1:p.Ala245Val, XP_005263517.1:p.Ala222Val, XP_005263518.1:p.Ala222Val, XP_005263519.1:p.Ala222Val, XP_005263520.1:p.Ala140Val, XP_011539797.1:p.Ala262Val, XP_011539798.1:p.Ala263Val, rs386545618, rs4134713, rs59514310
G > A
SNP
A222V
No VIP available CA VA
rs1801158 NC_000001.10:g.97981421C>T, NC_000001.11:g.97515865C>T, NG_008807.2:g.410195G>A, NM_000110.3:c.1601G>A, NP_000101.2:p.Ser534Asn, XM_005270561.1:c.1490G>A, XM_005270562.1:c.1524+33695G>A, XM_005270562.3:c.1524+33695G>A, XM_005270563.1:c.1601G>A, XM_005270564.1:c.1601G>A, XM_006710397.2:c.1601G>A, XP_005270618.1:p.Ser497Asn, XP_005270620.1:p.Ser534Asn, XP_005270621.1:p.Ser534Asn, XP_006710460.1:p.Ser534Asn, rs199469539, rs52824375, rs59516208
C > T
SNP
S534N
No VIP available CA VA
rs1801159 NC_000001.10:g.97981395T>C, NC_000001.11:g.97515839T>C, NG_008807.2:g.410221A>G, NM_000110.3:c.1627A>G, NP_000101.2:p.Ile543Val, XM_005270561.1:c.1516A>G, XM_005270562.1:c.1524+33721A>G, XM_005270562.3:c.1524+33721A>G, XM_005270563.1:c.1627A>G, XM_005270564.1:c.1627A>G, XM_006710397.2:c.1627A>G, XP_005270618.1:p.Ile506Val, XP_005270620.1:p.Ile543Val, XP_005270621.1:p.Ile543Val, XP_006710460.1:p.Ile543Val, rs117999026, rs17116825, rs199469541, rs386545620, rs58945530
T > C
SNP
I543V
No VIP available CA VA
rs1801160 NC_000001.10:g.97770920C>T, NC_000001.11:g.97305364C>T, NG_008807.2:g.620696G>A, NM_000110.3:c.2194G>A, NP_000101.2:p.Val732Ile, NR_046590.1:n.129-825C>T, XM_005270561.1:c.2083G>A, XM_005270562.1:c.1978G>A, XM_005270562.3:c.1978G>A, XM_005270563.1:c.2194G>A, XM_006710397.2:c.2194G>A, XP_005270618.1:p.Val695Ile, XP_005270619.1:p.Val660Ile, XP_005270619.2:p.Val660Ile, XP_005270620.1:p.Val732Ile, XP_006710460.1:p.Val732Ile, rs12720467, rs12720468, rs199469554
C > T
SNP
V732I
No VIP available CA VA
rs1801265 NC_000001.10:g.98348885G=, NC_000001.10:g.98348885G>A, NC_000001.11:g.97883329A=, NC_000001.11:g.97883329A>G, NG_008807.2:g.42731T=, NG_008807.2:g.42731T>C, NM_000110.3:c.85T=, NM_000110.3:c.85T>C, NM_001160301.1:c.85T=, NM_001160301.1:c.85T>C, NP_000101.2:p.Cys29=, NP_000101.2:p.Cys29Arg, NP_001153773.1:p.Cys29=, NP_001153773.1:p.Cys29Arg, XM_005270561.1:c.39+37555C>T, XM_005270561.1:c.39+37555T>C, XM_005270562.1:c.85C=, XM_005270562.1:c.85C>T, XM_005270562.3:c.85T=, XM_005270562.3:c.85T>C, XM_005270563.1:c.85C=, XM_005270563.1:c.85C>T, XM_005270564.1:c.85C=, XM_005270564.1:c.85C>T, XM_006710397.2:c.85T=, XM_006710397.2:c.85T>C, XP_005270619.1:p.Arg29=, XP_005270619.1:p.Arg29Cys, XP_005270619.2:p.Cys29=, XP_005270619.2:p.Cys29Arg, XP_005270620.1:p.Arg29=, XP_005270620.1:p.Arg29Cys, XP_005270621.1:p.Arg29=, XP_005270621.1:p.Arg29Cys, XP_006710460.1:p.Cys29=, XP_006710460.1:p.Cys29Arg, rs199469510, rs3211355, rs52823090, rs57596852
G > A
SNP
C29R
No VIP available CA VA
rs1801266 NC_000001.10:g.98157332G>A, NC_000001.11:g.97691776G>A, NG_008807.2:g.234284C>T, NM_000110.3:c.703C>T, NP_000101.2:p.Arg235Trp, XM_005270561.1:c.592C>T, XM_005270562.1:c.703C>T, XM_005270562.3:c.703C>T, XM_005270563.1:c.703C>T, XM_005270564.1:c.703C>T, XM_006710397.2:c.703C>T, XP_005270618.1:p.Arg198Trp, XP_005270619.1:p.Arg235Trp, XP_005270619.2:p.Arg235Trp, XP_005270620.1:p.Arg235Trp, XP_005270621.1:p.Arg235Trp, XP_006710460.1:p.Arg235Trp, rs386545627
G > A
SNP
R235W
No VIP available No Clinical Annotations available VA
rs1801267 NC_000001.10:g.97564154C>T, NC_000001.11:g.97098598C>T, NG_008807.2:g.827462G>A, NM_000110.3:c.2657G>A, NP_000101.2:p.Arg886His, NR_046590.1:n.64+2612C>T, XM_005270561.1:c.2546G>A, XM_005270562.1:c.2441G>A, XM_005270562.3:c.2441G>A, XP_005270618.1:p.Arg849His, XP_005270619.1:p.Arg814His, XP_005270619.2:p.Arg814His, rs386545628
C > T
SNP
R886H
No VIP available CA VA
rs1801268 NC_000001.10:g.97544627C>A, NC_000001.11:g.97079071C>A, NG_008807.2:g.846989G>T, NM_000110.3:c.2983G>T, NP_000101.2:p.Val995Phe, XM_005270561.1:c.2872G>T, XM_005270562.1:c.2767G>T, XM_005270562.3:c.2767G>T, XP_005270618.1:p.Val958Phe, XP_005270619.1:p.Val923Phe, XP_005270619.2:p.Val923Phe, rs386545629
C > A
SNP
V995F
No VIP available No Clinical Annotations available VA
rs183105782 NC_000001.10:g.98060663A>G, NC_000001.11:g.97595107A>G, NG_008807.2:g.330953T>C, NM_000110.3:c.910T>C, NP_000101.2:p.Tyr304His, XM_005270561.1:c.799T>C, XM_005270562.1:c.910T>C, XM_005270562.3:c.910T>C, XM_005270563.1:c.910T>C, XM_005270564.1:c.910T>C, XM_006710397.2:c.910T>C, XP_005270618.1:p.Tyr267His, XP_005270619.1:p.Tyr304His, XP_005270619.2:p.Tyr304His, XP_005270620.1:p.Tyr304His, XP_005270621.1:p.Tyr304His, XP_006710460.1:p.Tyr304His
A > G
SNP
Y304H
No VIP available CA VA
rs183205964 NC_000018.10:g.657657G>C, NC_000018.9:g.657657G>C, NG_028255.1:g.5054G>C, NM_001012716.2:c.*34+185C>G, NM_001071.2:c.-86G>C, XM_005258137.1:c.-86G>C, XM_005258138.1:c.-86G>C
G > C
SNP
No VIP available No Clinical Annotations available VA
rs183385770 NC_000001.10:g.98058878C>T, NC_000001.11:g.97593322C>T, NG_008807.2:g.332738G>A, NM_000110.3:c.1024G>A, NP_000101.2:p.Asp342Asn, XM_005270561.1:c.913G>A, XM_005270562.1:c.1024G>A, XM_005270562.3:c.1024G>A, XM_005270563.1:c.1024G>A, XM_005270564.1:c.1024G>A, XM_006710397.2:c.1024G>A, XP_005270618.1:p.Asp305Asn, XP_005270619.1:p.Asp342Asn, XP_005270619.2:p.Asp342Asn, XP_005270620.1:p.Asp342Asn, XP_005270621.1:p.Asp342Asn, XP_006710460.1:p.Asp342Asn
C > T
SNP
D342N
No VIP available No Clinical Annotations available VA
rs186169810 NC_000001.10:g.98039341A>C, NC_000001.11:g.97573785A>C, NG_008807.2:g.352275T>G, NM_000110.3:c.1314T>G, NP_000101.2:p.Phe438Leu, XM_005270561.1:c.1203T>G, XM_005270562.1:c.1314T>G, XM_005270562.3:c.1314T>G, XM_005270563.1:c.1314T>G, XM_005270564.1:c.1314T>G, XM_006710397.2:c.1314T>G, XP_005270618.1:p.Phe401Leu, XP_005270619.1:p.Phe438Leu, XP_005270619.2:p.Phe438Leu, XP_005270620.1:p.Phe438Leu, XP_005270621.1:p.Phe438Leu, XP_006710460.1:p.Phe438Leu
A > C
SNP
F438L
No VIP available No Clinical Annotations available VA
rs1870377 NC_000004.11:g.55972974T>A, NC_000004.12:g.55106807T>A, NG_012004.1:g.23789A>T, NM_002253.2:c.1416A>T, NP_002244.1:p.Gln472His, rs52810770
T > A
SNP
Q472H
No VIP available No Clinical Annotations available VA
rs188052243 NC_000001.10:g.97564133T>C, NC_000001.11:g.97098577T>C, NG_008807.2:g.827483A>G, NM_000110.3:c.2678A>G, NP_000101.2:p.Asn893Ser, NR_046590.1:n.64+2591T>C, XM_005270561.1:c.2567A>G, XM_005270562.1:c.2462A>G, XM_005270562.3:c.2462A>G, XP_005270618.1:p.Asn856Ser, XP_005270619.1:p.Asn821Ser, XP_005270619.2:p.Asn821Ser
T > C
SNP
N893S
No VIP available No Clinical Annotations available VA
rs1885301 NC_000010.10:g.101541053A>G, NC_000010.11:g.99781296A>G, NG_011798.1:g.3591A>G, NM_000392.4:c.-1549A>G, XM_005269536.1:c.-1549A>G, XM_006717631.2:c.-1549A>G, XM_011539291.1:c.-1549A>G, XR_945604.1:n.-1360A>G, XR_945605.1:n.-1358A>G, rs17216261, rs59934936
A > G
SNP
No VIP available No Clinical Annotations available VA
rs190577302 NC_000001.10:g.98058848G>C, NC_000001.11:g.97593292G>C, NG_008807.2:g.332768C>G, NM_000110.3:c.1054C>G, NP_000101.2:p.Leu352Val, XM_005270561.1:c.943C>G, XM_005270562.1:c.1054C>G, XM_005270562.3:c.1054C>G, XM_005270563.1:c.1054C>G, XM_005270564.1:c.1054C>G, XM_006710397.2:c.1054C>G, XP_005270618.1:p.Leu315Val, XP_005270619.1:p.Leu352Val, XP_005270619.2:p.Leu352Val, XP_005270620.1:p.Leu352Val, XP_005270621.1:p.Leu352Val, XP_006710460.1:p.Leu352Val
G > C
SNP
L352V
No VIP available No Clinical Annotations available VA
rs190951787
G > C
SNP
T526S
No VIP available CA VA
rs1979277 NC_000017.10:g.18232096G>A, NC_000017.11:g.18328782G>A, NG_017111.1:g.39761C>T, NM_001281786.1:c.1006C>T, NM_004169.4:c.1420C>T, NM_148918.2:c.1303C>T, NP_001268715.1:p.Leu336Phe, NP_004160.3:p.Leu474Phe, NP_683718.1:p.Leu435Phe, XM_005256767.1:c.1420C>T, XM_005256767.2:c.1420C>T, XM_005256768.1:c.1006C>T, XM_011523992.1:c.1180C>T, XP_005256824.1:p.Leu474Phe, XP_005256825.1:p.Leu336Phe, XP_011522294.1:p.Leu394Phe, rs17850285, rs2230025, rs3183766, rs57933897
G > A
SNP
L336F
No VIP available No Clinical Annotations available VA
rs199549923
G > T
SNP
T468N
No VIP available No Clinical Annotations available VA
rs199634007
G > T
SNP
T779N
No VIP available No Clinical Annotations available VA
rs200064537
A > T
SNP
N420K
No VIP available No Clinical Annotations available VA
rs200562975
T > C
SNP
N151D
No VIP available No Clinical Annotations available VA
rs200687447 NC_000001.10:g.97658765C>G, NC_000001.10:g.97658765C>T, NC_000001.11:g.97193209C>G, NC_000001.11:g.97193209C>T, NG_008807.2:g.732851G>A, NG_008807.2:g.732851G>C, NM_000110.3:c.2482G>A, NM_000110.3:c.2482G>C, NP_000101.2:p.Glu828Gln, NP_000101.2:p.Glu828Lys, NR_046590.1:n.65-72205C>G, NR_046590.1:n.65-72205C>T, XM_005270561.1:c.2371G>A, XM_005270561.1:c.2371G>C, XM_005270562.1:c.2266G>A, XM_005270562.1:c.2266G>C, XM_005270562.3:c.2266G>A, XM_005270562.3:c.2266G>C, XM_006710397.2:c.2482G>A, XM_006710397.2:c.2482G>C, XP_005270618.1:p.Glu791Gln, XP_005270618.1:p.Glu791Lys, XP_005270619.1:p.Glu756Gln, XP_005270619.1:p.Glu756Lys, XP_005270619.2:p.Glu756Gln, XP_005270619.2:p.Glu756Lys, XP_006710460.1:p.Glu828Gln, XP_006710460.1:p.Glu828Lys
C > G
C > T
SNP
E828K/Q
No VIP available No Clinical Annotations available VA
rs201018345
C > T
SNP
A323T
No VIP available No Clinical Annotations available VA
rs201035051
T > G
SNP
K875Q
No VIP available CA VA
rs201045130 NC_000001.10:g.40125139A>G, NC_000001.11:g.39659467A>G, NM_032526.2:c.761T>C, NP_115915.1:p.Leu254Pro
A > G
SNP
L254P
No VIP available CA VA
rs2010851 NC_000012.11:g.1756642C>A, NC_000012.12:g.1647476C>A, NM_030775.2:c.*1224C>A, NM_032642.2:c.*1224C>A, XM_005253792.1:c.*1224C>A, XM_005253793.1:c.*1224C>A, XM_005253794.1:c.*1224C>A, XM_011521026.1:c.*1224C>A, rs57028820
C > A
SNP
No VIP available No Clinical Annotations available VA
rs2010963 NC_000006.11:g.43738350C>G, NC_000006.12:g.43770613C>G, NG_008732.1:g.5398C>G, NM_001025366.2:c.-94C>G, NM_001025367.2:c.-94C>G, NM_001025368.2:c.-94C>G, NM_001025369.2:c.-94C>G, NM_001025370.2:c.-94C>G, NM_001033756.2:c.-94C>G, NM_001171622.1:c.-94C>G, NM_001171623.1:c.-634C>G, NM_001171624.1:c.-634C>G, NM_001171625.1:c.-634C>G, NM_001171626.1:c.-634C>G, NM_001171627.1:c.-634C>G, NM_001171628.1:c.-634C>G, NM_001171629.1:c.-634C>G, NM_001171630.1:c.-634C>G, NM_001204384.1:c.-634C>G, NM_001204385.1:c.-94C>G, NM_001287044.1:c.-1507C>G, NM_001317010.1:c.-634C>G, NM_003376.5:c.-94C>G, XM_005249363.1:c.-1507C>G
C > G
SNP
No VIP available No Clinical Annotations available VA
rs201615754
C > A
C > T
SNP
R561L/Q
No VIP available No Clinical Annotations available VA
rs202144771
G > A
SNP
L993F
No VIP available No Clinical Annotations available VA
rs2032582 NC_000007.13:g.87160618A>C, NC_000007.13:g.87160618A>T, NC_000007.14:g.87531302A>C, NC_000007.14:g.87531302A>T, NG_011513.1:g.186947T>A, NG_011513.1:g.186947T>G, NM_000927.4:c.2677T>A, NM_000927.4:c.2677T>G, NP_000918.2:p.Ser893Ala, NP_000918.2:p.Ser893Thr, rs10228331, rs2229106, rs386553610, rs57135550, rs9641018
A > C
SNP
S893A
No VIP available No Clinical Annotations available VA
rs2070474 NC_000022.10:g.24891292C>G, NC_000022.11:g.24495324C>G, NG_012858.1:g.5042C>G, NM_016327.2:c.-80C>G, NR_028483.2:n.-250G>C, NR_028484.2:n.-250G>C, XM_005261633.1:c.-112C>G, XM_011530222.1:c.-80C>G, XM_011530223.1:c.-80C>G, XM_011530224.1:c.-80C>G, XM_011530225.1:c.-522C>G, XR_244378.1:n.265C>G, XR_937867.1:n.858C>G, rs199469575
C > G
SNP
No VIP available CA No Variant Annotations available
rs2070744 NC_000007.13:g.150690079C=, NC_000007.13:g.150690079C>T, NC_000007.14:g.150992991C=, NC_000007.14:g.150992991C>T, NG_011992.1:g.6933C=, NG_011992.1:g.6933C>T, NM_000603.4:c.-51-762C=, NM_000603.4:c.-51-762C>T, NM_001160109.1:c.-813C=, NM_001160109.1:c.-813C>T, NM_001160110.1:c.-813C=, NM_001160110.1:c.-813C>T, NM_001160111.1:c.-813C=, NM_001160111.1:c.-813C>T, XM_006716002.2:c.-813C=, XM_006716002.2:c.-813C>T, rs10333298, rs34629525, rs61324345
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2071559 NC_000004.11:g.55992366A>G, NC_000004.12:g.55126199A>G, NG_012004.1:g.4397T>C, NM_002253.2:c.-906T>C, rs59863954
A > G
SNP
No VIP available No Clinical Annotations available VA
rs2072671 NC_000001.10:g.20915701A>C, NC_000001.11:g.20589208A>C, NM_001785.2:c.79A>C, NP_001776.1:p.Lys27Gln, rs57221291
A > C
SNP
K27Q
No VIP available No Clinical Annotations available VA
rs2074087 NC_000016.10:g.16090375C=, NC_000016.10:g.16090375C>G, NC_000016.9:g.16184232C>G, NG_028268.1:g.145799C=, NG_028268.1:g.145799C>G, NM_004996.3:c.2461-30C>G, NM_004996.3:c.2461-30G>C, NT_187607.1:g.1748233G=, NT_187607.1:g.1748233G>C, XM_005255326.1:c.2461-30C>G, XM_005255327.1:c.2335-30C>G, XM_005255328.1:c.2323-30C>G, XM_005255329.1:c.2284-30C>G, XM_011522497.1:c.2437-30C>G, XM_011522497.1:c.2437-30G>C, XM_011522498.1:c.2368-30C>G, XM_011522498.1:c.2368-30G>C, rs57718684
C > G
SNP
No VIP available CA No Variant Annotations available
rs2231142 NC_000004.11:g.89052323G>T, NC_000004.12:g.88131171G>T, NG_032067.2:g.105152C>A, NM_001257386.1:c.421C>A, NM_004827.2:c.421C>A, NP_001244315.1:p.Gln141Lys, NP_004818.2:p.Gln141Lys, XM_005263354.1:c.421C>A, XM_005263354.2:c.421C>A, XM_005263355.1:c.421C>A, XM_005263355.2:c.421C>A, XM_005263356.1:c.421C>A, XM_005263356.2:c.421C>A, XM_011532420.1:c.421C>A, XP_005263411.1:p.Gln141Lys, XP_005263412.1:p.Gln141Lys, XP_005263413.1:p.Gln141Lys, XP_011530722.1:p.Gln141Lys, rs12721641, rs28365035, rs3736117, rs52809243, rs58973676
G > T
SNP
Q141K
No VIP available No Clinical Annotations available VA
rs2236225 NC_000014.8:g.64908845G>A, NC_000014.9:g.64442127G>A, NG_012450.1:g.59087G>A, NM_005956.3:c.1958G>A, NP_005947.3:p.Arg653Gln, XM_005267693.1:c.2126G>A, XP_005267750.1:p.Arg709Gln, rs117048039, rs17751608, rs17850560, rs52810262, rs56503831, rs58065500
G > A
SNP
R653Q
No VIP available CA VA
rs2236722 NC_000015.10:g.51242798A>G, NC_000015.9:g.51534995A>G, NG_007982.1:g.100801T>C, NM_000103.3:c.115T>C, NM_031226.2:c.115T>C, NP_000094.2:p.Trp39Arg, NP_112503.1:p.Trp39Arg, XM_005254190.1:c.115T>C, XM_005254191.1:c.115T>C, XM_005254192.1:c.115T>C, XP_005254247.1:p.Trp39Arg, XP_005254248.1:p.Trp39Arg, XP_005254249.1:p.Trp39Arg, XR_932222.1:n.99-35185A>G, rs17703921, rs52795506, rs57951984
A > G
SNP
W39R
No VIP available CA VA
rs225440 NC_000021.8:g.43653053C>T, NC_000021.9:g.42232943C>T, NM_004915.3:c.286+7029C>T, NM_016818.2:c.286+7029C>T, NM_207174.1:c.319+7029C>T, NM_207627.1:c.292+7029C>T, NM_207628.1:c.220+7029C>T, NM_207629.1:c.277+7029C>T, XM_005261209.1:c.319+7029C>T, XM_011529806.1:c.319+7029C>T, XM_011529807.1:c.319+7029C>T, rs3827226, rs386562698, rs474673, rs56980987, rs872748
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2266637 NC_000022.10:g.24376845C>T, NM_000853.3:c.505G>A, NM_001293807.1:c.463G>A, NM_001293808.1:c.151G>A, NM_001293809.1:c.151G>A, NM_001293810.1:c.151G>A, NM_001293811.1:c.151G>A, NM_001293812.1:c.151G>A, NM_001293813.1:c.201-228G>A, NM_001293814.1:c.113-228G>A, NP_000844.2:p.Val169Ile, NP_001280736.1:p.Val155Ile, NP_001280737.1:p.Val51Ile, NP_001280738.1:p.Val51Ile, NP_001280739.1:p.Val51Ile, NP_001280740.1:p.Val51Ile, NP_001280741.1:p.Val51Ile, NT_187633.1:g.271020C>T, XM_005261587.1:c.652G>A, XM_005261587.2:c.652G>A, XM_005261588.1:c.151G>A, XM_005261589.1:c.151G>A, XP_005261644.1:p.Val218Ile, XP_005261645.1:p.Val51Ile, XP_005261646.1:p.Val51Ile, rs56671512, rs762585649
C > T
SNP
V169I
No VIP available No Clinical Annotations available VA
rs2286455 NC_000004.11:g.16020162C>T, NC_000004.12:g.16018539C>T, NG_011696.1:g.70462G>A, NM_001145847.1:c.759G>A, NM_001145848.1:c.759G>A, NM_001145849.1:c.786G>A, NM_001145850.1:c.786G>A, NM_001145851.1:c.759G>A, NM_001145852.1:c.759G>A, NM_006017.2:c.786G>A, NP_001139319.1:p.Ala253=, NP_001139320.1:p.Ala253=, NP_001139321.1:p.Ala262=, NP_001139322.1:p.Ala262=, NP_001139323.1:p.Ala253=, NP_001139324.1:p.Ala253=, NP_006008.1:p.Ala262=, XM_005248194.1:c.786G>A, XM_005248195.1:c.759G>A, XM_005248195.3:c.759G>A, XM_005248196.1:c.759G>A, XM_005248196.3:c.759G>A, XM_006713974.2:c.552G>A, XM_011513890.1:c.786G>A, XM_011513891.1:c.786G>A, XM_011513892.1:c.786G>A, XM_011513893.1:c.786G>A, XM_011513894.1:c.786G>A, XM_011513895.1:c.786G>A, XM_011513896.1:c.786G>A, XM_011513897.1:c.786G>A, XM_011513898.1:c.786G>A, XM_011513899.1:c.759G>A, XM_011513900.1:c.786G>A, XM_011513901.1:c.786G>A, XM_011513902.1:c.786G>A, XM_011513903.1:c.579G>A, XM_011513904.1:c.513G>A, XP_005248251.1:p.Ala262=, XP_005248252.1:p.Ala253=, XP_005248253.1:p.Ala253=, XP_006714037.1:p.Ala184=, XP_011512192.1:p.Ala262=, XP_011512193.1:p.Ala262=, XP_011512194.1:p.Ala262=, XP_011512195.1:p.Ala262=, XP_011512196.1:p.Ala262=, XP_011512197.1:p.Ala262=, XP_011512198.1:p.Ala262=, XP_011512199.1:p.Ala262=, XP_011512200.1:p.Ala262=, XP_011512201.1:p.Ala253=, XP_011512202.1:p.Ala262=, XP_011512203.1:p.Ala262=, XP_011512204.1:p.Ala262=, XP_011512205.1:p.Ala193=, XP_011512206.1:p.Ala171=, rs56605149, rs60672150
C > T
SNP
A253A
No VIP available CA VA
rs2289310 NC_000010.10:g.79570873G>T, NC_000010.11:g.77811115G>T, NG_011484.1:g.120476C>A, NM_004747.3:c.4442C>A, NP_004738.3:p.Pro1481Gln, NT_187580.1:g.49807G>T, XM_005270276.1:c.4430C>A, XM_005270276.3:c.4430C>A, XM_006718056.2:c.3422C>A, XM_006725120.2:c.4430C>A, XM_006725122.2:c.3422C>A, XM_011540341.1:c.4265C>A, XM_011540342.1:c.4172C>A, XM_011540343.1:c.4112C>A, XM_011540344.1:c.4106C>A, XM_011540345.1:c.3977C>A, XM_011540346.1:c.4442C>A, XM_011540347.1:c.3524C>A, XM_011546575.1:c.4265C>A, XM_011546576.1:c.4172C>A, XM_011546577.1:c.4106C>A, XM_011546578.1:c.3977C>A, XM_011546579.1:c.4442C>A, XM_011546580.1:c.3524C>A, XP_005270333.1:p.Pro1477Gln, XP_006718119.1:p.Pro1141Gln, XP_006725183.1:p.Pro1477Gln, XP_006725185.1:p.Pro1141Gln, XP_011538643.1:p.Pro1422Gln, XP_011538644.1:p.Pro1391Gln, XP_011538645.1:p.Pro1371Gln, XP_011538646.1:p.Pro1369Gln, XP_011538647.1:p.Pro1326Gln, XP_011538648.1:p.Pro1481Gln, XP_011538649.1:p.Pro1175Gln, XP_011544877.1:p.Pro1422Gln, XP_011544878.1:p.Pro1391Gln, XP_011544879.1:p.Pro1369Gln, XP_011544880.1:p.Pro1326Gln, XP_011544881.1:p.Pro1481Gln, XP_011544882.1:p.Pro1175Gln
G > T
SNP
P1481Q
No VIP available CA VA
rs2291078 NC_000003.11:g.124458938T>A, NC_000003.12:g.124740091T>A, NG_017037.1:g.14726T>A, NM_000373.3:c.1050T>A, NP_000364.1:p.Val350=, NR_033434.1:n.1002T>A, NR_033437.1:n.1255T>A, XM_005247741.1:c.774T>A, XM_005247742.1:c.516T>A, XM_005247743.1:c.516T>A, XM_005247744.1:c.448+1852T>A, XP_005247798.1:p.Val258=, XP_005247799.1:p.Val172=, XP_005247800.1:p.Val172=, rs17843836, rs199469592
T > -
T > A
SNP
V350V
No VIP available CA VA
rs2292997 NC_000003.11:g.183724072G>A, NC_000003.12:g.184006284G>A, NM_001023587.2:c.129+7980C>T, NM_001320032.1:c.-1403+7980C>T, NM_005688.3:c.129+7980C>T, NR_046570.1:n.-54G>A, NR_135125.1:n.315+7980C>T, XM_005247058.1:c.129+7980C>T, XM_005247058.3:c.129+7980C>T, XM_005247059.1:c.129+7980C>T, XM_005247059.3:c.129+7980C>T, XM_005247060.1:c.129+7980C>T, XM_005247061.1:c.129+7980C>T, XM_005247062.1:c.-1403+7980C>T, XM_011512314.1:c.129+7980C>T, XM_011512315.1:c.129+7980C>T, XM_011512316.1:c.-1403+7980C>T, rs17750557, rs56715946
G > A
SNP
No VIP available CA VA
rs2293347 NC_000007.13:g.55268916C>T, NC_000007.14:g.55201223C>T, NG_007726.3:g.187192C>T, NM_005228.3:c.2982C>T, NP_005219.2:p.Asp994=, XM_005271746.1:c.2847C>T, XM_005271747.1:c.2823C>T, XP_005271803.1:p.Asp949=, XP_005271804.1:p.Asp941=, rs10435501, rs17337472, rs386564009, rs56649858, rs61150996
C > T
SNP
D994D
No VIP available CA VA
rs2297595 NC_000001.10:g.98165091T>C, NC_000001.11:g.97699535T>C, NG_008807.2:g.226525A>G, NM_000110.3:c.496A>G, NP_000101.2:p.Met166Val, XM_005270561.1:c.385A>G, XM_005270562.1:c.496A>G, XM_005270562.3:c.496A>G, XM_005270563.1:c.496A>G, XM_005270564.1:c.496A>G, XM_006710397.2:c.496A>G, XP_005270618.1:p.Met129Val, XP_005270619.1:p.Met166Val, XP_005270619.2:p.Met166Val, XP_005270620.1:p.Met166Val, XP_005270621.1:p.Met166Val, XP_006710460.1:p.Met166Val, rs118014431, rs199469517, rs52827192, rs61243782
T > C
SNP
M166V
No VIP available No Clinical Annotations available VA
rs2302273 NC_000005.10:g.150155692G>A, NC_000005.9:g.149535255G>A, NG_023367.1:g.5168C>T, NM_002609.3:c.-302C>T, XM_005268464.1:c.-448C>T, XM_005268464.2:c.-448C>T, XM_011537659.1:c.-769C>T, rs56934659
G > A
SNP
No VIP available No Clinical Annotations available VA
rs2305948 NC_000004.11:g.55979558C>T, NC_000004.12:g.55113391C>T, NG_012004.1:g.17205G>A, NM_002253.2:c.889G>A, NP_002244.1:p.Val297Ile, rs386564519, rs52830740, rs56532927, rs56973163
C > T
SNP
V297I
No VIP available No Clinical Annotations available VA
rs2306283 NC_000012.11:g.21329738A>G, NC_000012.12:g.21176804A>G, NG_011745.1:g.50611A>G, NM_006446.4:c.388A>G, NP_006437.3:p.Asn130Asp, rs17389242, rs52832430, rs60767041
A > G
SNP
N130D
No VIP available No Clinical Annotations available VA
rs2465403 NC_000008.10:g.120090827G>A, NC_000008.11:g.119078588G>A, NM_006438.3:c.149-11092G>A, XM_005250756.1:c.-59-11092G>A, XM_005250756.2:c.-59-11092G>A, XM_011516795.1:c.-59-11092G>A
G > A
SNP
No VIP available CA VA
rs25487 NC_000019.10:g.43551574T>C, NC_000019.9:g.44055726T>C, NG_033799.1:g.29005A>G, NM_006297.2:c.1196A>G, NP_006288.2:p.Gln399Arg, rs11553658, rs17435395, rs3817410, rs386493716, rs57378728
T > C
SNP
Q399R
No VIP available CA VA
rs25648 NC_000006.11:g.43738977C>T, NC_000006.12:g.43771240C>T, NG_008732.1:g.6025C>T, NM_001025366.2:c.534C>T, NM_001025367.2:c.534C>T, NM_001025368.2:c.534C>T, NM_001025369.2:c.534C>T, NM_001025370.2:c.534C>T, NM_001033756.2:c.534C>T, NM_001171622.1:c.534C>T, NM_001171623.1:c.-7C>T, NM_001171624.1:c.-7C>T, NM_001171625.1:c.-7C>T, NM_001171626.1:c.-7C>T, NM_001171627.1:c.-7C>T, NM_001171628.1:c.-7C>T, NM_001171629.1:c.-7C>T, NM_001171630.1:c.-7C>T, NM_001204384.1:c.-7C>T, NM_001204385.1:c.534C>T, NM_001287044.1:c.-880C>T, NM_001317010.1:c.-7C>T, NM_003376.5:c.534C>T, NP_001020537.2:p.Ser178=, NP_001020538.2:p.Ser178=, NP_001020539.2:p.Ser178=, NP_001020540.2:p.Ser178=, NP_001020541.2:p.Ser178=, NP_001028928.1:p.Ser178=, NP_001165093.1:p.Ser178=, NP_001191314.1:p.Ser178=, NP_003367.4:p.Ser178=, XM_005249363.1:c.-880C>T
C > T
SNP
S178S
No VIP available No Clinical Annotations available VA
rs2661280 NC_000001.10:g.163113375G>C, NC_000001.11:g.163143585G>C, NG_027731.2:g.183207C>G, NM_001195303.2:c.*3757C>G, NM_001254748.1:c.*3757C>G, NM_001254749.1:c.*3757C>G, NM_003617.3:c.*3757C>G, rs17361582, rs56558782, rs57479307, rs60251204
G > C
SNP
No VIP available No Clinical Annotations available VA
rs2669429 NC_000008.10:g.105463690A>G, NC_000008.11:g.104451462A>G, NG_008840.1:g.20588T>C, NM_001385.2:c.265-58T>C, XM_005250818.1:c.265-58T>C, XM_005250818.2:c.265-58T>C, XM_005250819.1:c.265-58T>C, XM_006716518.2:c.265-3959T>C, XM_011516903.1:c.265-58T>C, XM_011516904.1:c.265-58T>C, rs17246278, rs199469604, rs3750186, rs60334774
A > G
SNP
No VIP available No Clinical Annotations available VA
rs2740574 NC_000007.13:g.99382096C>T, NC_000007.14:g.99784473C>T, NG_008421.1:g.4713G>A, NM_001202855.2:c.-392G>A, NM_017460.5:c.-392G>A, XM_011515841.1:c.-392G>A, XM_011515842.1:c.-392G>A, rs3176920, rs36231114, rs59393892
C > T
SNP
No VIP available No Clinical Annotations available VA
rs2811178
T > C
SNP
No VIP available CA VA
rs2847153 NC_000018.10:g.661647G>A, NC_000018.9:g.661647G>A, NG_028255.1:g.9044G>A, NM_001071.2:c.280-499G>A, XM_005258137.1:c.280-499G>A, XM_005258138.1:c.205+3700G>A, rs57253344
G > A
SNP
No VIP available CA VA
rs2854744 NC_000007.13:g.45961075G>T, NC_000007.14:g.45921476G>T, NG_011508.1:g.4797C>A, NM_000598.4:c.-336C>A, NM_001013398.1:c.-336C>A, XM_005249743.1:c.-336C>A
G > T
SNP
No VIP available No Clinical Annotations available VA
rs2854746 NC_000007.13:g.45960645G>C, NC_000007.14:g.45921046G>C, NG_011508.1:g.5227C>G, NM_000598.4:c.95C>G, NM_001013398.1:c.95C>G, NP_000589.2:p.Ala32Gly, NP_001013416.1:p.Ala32Gly, XM_005249743.1:c.9+86C>G, rs11537918, rs17849244, rs17856581
G > C
SNP
A32G
No VIP available No Clinical Annotations available VA
rs2959023 NC_000008.10:g.105479149A>G, NC_000008.11:g.104466921A>G, NG_008840.1:g.5129T>C, NM_001385.2:c.-1T>C, XM_005250818.1:c.-1T>C, XM_005250818.2:c.-1T>C, XM_005250819.1:c.-1T>C, XM_006716518.2:c.-1T>C, XM_011516903.1:c.-1T>C, XM_011516904.1:c.-1T>C, XR_928507.1:n.112+934A>G, rs199469597, rs58165447
A > G
SNP
No VIP available CA VA
rs2960436 NC_000007.13:g.45977282G>A, NC_000007.14:g.45937683G>A, rs11535201, rs17187020, rs56987504
G > A
SNP
No VIP available CA VA
rs3025039 NC_000006.11:g.43752536C>T, NC_000006.12:g.43784799C>T, NG_008732.1:g.19584C>T, NM_001025366.2:c.*237C>T, NM_001025367.2:c.*237C>T, NM_001025368.2:c.*237C>T, NM_001025369.2:c.*253C>T, NM_001025370.2:c.*237C>T, NM_001033756.2:c.*171C>T, NM_001171622.1:c.*237C>T, NM_001171623.1:c.*237C>T, NM_001171624.1:c.*237C>T, NM_001171625.1:c.*237C>T, NM_001171626.1:c.*237C>T, NM_001171627.1:c.*253C>T, NM_001171628.1:c.*237C>T, NM_001171629.1:c.*171C>T, NM_001171630.1:c.*237C>T, NM_001204384.1:c.*237C>T, NM_001204385.1:c.*237C>T, NM_001287044.1:c.*237C>T, NM_001317010.1:c.*171C>T, NM_003376.5:c.*237C>T, XM_005249363.1:c.*237C>T, rs11575898
C > T
SNP
No VIP available No Clinical Annotations available VA
rs307805 NC_000005.10:g.180650487T>C, NC_000005.9:g.180077487T>C, NG_011536.1:g.4138A>G, NM_002020.4:c.-942A>G, NM_182925.4:c.-942A>G, XM_011534482.1:c.-942A>G, XM_011534483.1:c.-289A>G, rs1309960, rs57113127
T > C
SNP
No VIP available No Clinical Annotations available VA
rs307822 NC_000005.10:g.180601717T>C, NC_000005.9:g.180028717T>C, NG_011536.1:g.52908A>G, NM_182925.4:c.*1475A>G, XM_011534477.1:c.*1475A>G, XM_011534478.1:c.*1475A>G, XM_011534482.1:c.*1475A>G, XM_011534483.1:c.*1475A>G, XM_011534484.1:c.*1475A>G, rs1309977
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3110697 NC_000007.13:g.45955029A>G, NC_000007.14:g.45915430A>G, NG_011508.1:g.10843T>C, NM_000598.4:c.751-485T>C, NM_001013398.1:c.769-485T>C, XM_005249743.1:c.460-485T>C, rs386579587, rs59896265
A > G
SNP
No VIP available No Clinical Annotations available VA
rs3130 NC_000004.11:g.15969938T>C, NC_000004.12:g.15968315T>C, NG_011696.1:g.120686A>G, NM_001145847.1:c.*1078A>G, NM_001145848.1:c.*1078A>G, NM_001145849.1:c.*1078A>G, NM_001145850.1:c.*1078A>G, NM_001145851.1:c.*1078A>G, NM_001145852.1:c.*1078A>G, NM_006017.2:c.*1078A>G, XM_005248194.1:c.*1078A>G, XM_005248195.1:c.*1078A>G, XM_005248195.3:c.*1078A>G, XM_005248196.1:c.*1078A>G, XM_005248196.3:c.*1078A>G, XM_006713974.2:c.*1078A>G, XM_011513890.1:c.*1078A>G, XM_011513891.1:c.*1078A>G, XM_011513892.1:c.*1078A>G, XM_011513893.1:c.*1078A>G, XM_011513894.1:c.*1078A>G, XM_011513895.1:c.*1078A>G, XM_011513896.1:c.*1078A>G, XM_011513897.1:c.*1078A>G, XM_011513900.1:c.*1078A>G, XM_011513901.1:c.*1078A>G, XM_011513902.1:c.*1078A>G, XM_011513903.1:c.*1078A>G, XM_011513904.1:c.*1078A>G, rs11552440, rs17477709, rs3194369, rs56565902, rs60023481, rs60646405, rs7752
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3136228 NC_000002.11:g.48009816T>G, NC_000002.12:g.47782677T>G, NG_007111.1:g.4531T>G, NM_000179.2:c.-557T>G, NM_001281492.1:c.-557T>G, NM_001281493.1:c.-1293T>G, NM_001281494.1:c.-2071T>G, XM_005264271.1:c.-1599T>G, XM_011532798.1:c.-1253T>G, XM_011532799.1:c.-1139T>G, XM_011532800.1:c.-592T>G, rs58009211
T > G
SNP
No VIP available No Clinical Annotations available VA
rs3212948 NC_000019.10:g.45421104G>C, NC_000019.9:g.45924362G>C, NG_015839.2:g.62725C>G, NM_001166049.1:c.321+74C>G, NM_001983.3:c.321+74C>G, NM_202001.2:c.321+74C>G, XM_005258634.1:c.321+74C>G, XM_005258635.1:c.321+74C>G, XM_005258635.2:c.321+74C>G, XM_005258636.1:c.321+74C>G, XM_005258636.3:c.321+74C>G, XM_005258637.1:c.321+74C>G, XM_005258638.1:c.106-677C>G, XM_011526610.1:c.321+74C>G, rs3737560, rs57311942
G > C
SNP
No VIP available No Clinical Annotations available VA
rs3212986 NC_000019.10:g.45409478C>A, NC_000019.9:g.45912736C>A, NG_015839.2:g.74351G>T, NM_001166049.1:c.*197G>T, NM_001297590.1:c.1516C>A, NM_001983.3:c.*197G>T, NM_012099.1:c.1510C>A, NP_001284519.1:p.Gln506Lys, NP_036231.1:p.Gln504Lys, XM_005258425.1:c.1516C>A, XM_005258638.1:c.*197G>T, XP_005258482.1:p.Gln506Lys, rs386580934, rs60333438
C > A
C > T
SNP
Q506K
No VIP available CA VA
rs3218592 NC_000006.11:g.111643838C>T, NC_000006.12:g.111322635C>T, NM_001286431.1:c.8051G>A, NM_001286432.1:c.8051G>A, NM_002912.4:c.8285G>A, NP_001273360.1:p.Arg2684Gln, NP_001273361.1:p.Arg2684Gln, NP_002903.3:p.Arg2762Gln, XM_005267088.1:c.8051G>A, XM_005267089.1:c.7919G>A, XM_006715543.2:c.8285G>A, XM_006715544.2:c.8051G>A, XM_011536028.1:c.8366G>A, XM_011536029.1:c.8363G>A, XM_011536030.1:c.8288G>A, XM_011536031.1:c.8132G>A, XM_011536032.1:c.8132G>A, XP_005267145.1:p.Arg2684Gln, XP_005267146.1:p.Arg2640Gln, XP_006715606.1:p.Arg2762Gln, XP_006715607.1:p.Arg2684Gln, XP_011534330.1:p.Arg2789Gln, XP_011534331.1:p.Arg2788Gln, XP_011534332.1:p.Arg2763Gln, XP_011534333.1:p.Arg2711Gln, XP_011534334.1:p.Arg2711Gln, XR_942871.1:n.2046-15110C>T, rs17511399, rs386581148, rs52802396
C > T
SNP
R2684Q
No VIP available No Clinical Annotations available VA
rs329007 NC_000018.10:g.9522608G>A, NC_000018.9:g.9522606G>A, NM_006788.3:c.1053+99G>A, XM_005258080.1:c.1053+99G>A, rs59437962
G > A
SNP
No VIP available No Clinical Annotations available VA
rs34116584 NC_000002.11:g.241808314C>A, NC_000002.11:g.241808314C>G, NC_000002.11:g.241808314C>T, NC_000002.12:g.240868897C>A, NC_000002.12:g.240868897C>G, NC_000002.12:g.240868897C>T, NG_008005.1:g.5153C>A, NG_008005.1:g.5153C>G, NG_008005.1:g.5153C>T, NM_000030.2:c.32C>A, NM_000030.2:c.32C>G, NM_000030.2:c.32C>T, NP_000021.1:p.Pro11Arg, NP_000021.1:p.Pro11His, NP_000021.1:p.Pro11Leu, XR_924060.1:n.405+1336G>A, XR_924060.1:n.405+1336G>C, XR_924060.1:n.405+1336G>T
C > A
C > G
C > T
SNP
P11H/L/R
rs34489327
TTAAAG > -
unknown
No VIP available CA VA
rs351855 NC_000005.10:g.177093242G>A, NC_000005.9:g.176520243G>A, NG_012067.1:g.11323G>A, NM_001291980.1:c.1097+65G>A, NM_002011.4:c.1162G>A, NM_022963.3:c.1058-90G>A, NM_213647.2:c.1162G>A, NP_002002.3:p.Gly388Arg, NP_998812.1:p.Gly388Arg, XM_005265837.1:c.1258G>A, XM_005265838.1:c.1162G>A, XM_005265838.2:c.1162G>A, XM_005265839.1:c.1097+65G>A, XM_011534464.1:c.1255G>A, XM_011534465.1:c.844G>A, XP_005265894.1:p.Gly420Arg, XP_005265895.1:p.Gly388Arg, XP_011532766.1:p.Gly419Arg, XP_011532767.1:p.Gly282Arg, XR_941090.1:n.1207G>A, rs117475361, rs56695235
G > A
SNP
G388R
No VIP available No Clinical Annotations available VA
rs367619008
T > C
SNP
K63E
No VIP available CA VA
rs370457585 NC_000001.10:g.40126852C>G, NC_000001.10:g.40126852C>T, NC_000001.11:g.39661180C>G, NC_000001.11:g.39661180C>T, NM_032526.2:c.640G>A, NM_032526.2:c.640G>C, NP_115915.1:p.Ala214Pro, NP_115915.1:p.Ala214Thr
C > G
C > T
SNP
A214P/T
No VIP available CA VA
rs371194629 NC_000006.11:g.29798581_29798582insATTTGT, NC_000006.11:g.29798581_29798582insATTTGTTCATGCCT, NC_000006.12:g.29830804_29830805insATTTGT, NC_000006.12:g.29830804_29830805insATTTGTTCATGCCT, NG_029039.1:g.8826_8827insATTTGT, NG_029039.1:g.8826_8827insATTTGTTCATGCCT, NM_002127.5:c.*65_*66insATTTGT, NM_002127.5:c.*65_*66insATTTGTTCATGCCT, NT_113891.3:g.1314366_1314381insATTTGT, NT_113891.3:g.1314366_1314381insATTTGTTCATGCCT, NT_167244.2:g.1096416_1096431insATTTGT, NT_167244.2:g.1096416_1096431insATTTGTTCATGCCT, NT_167245.1:g.1099202_1099203insATTTGT, NT_167245.1:g.1099202_1099203insATTTGTTCATGCCT, NT_167245.2:g.1093617_1093618insATTTGT, NT_167245.2:g.1093617_1093618insATTTGTTCATGCCT, NT_167246.1:g.1098910_1098911insATTTGT, NT_167246.1:g.1098910_1098911insATTTGTTCATGCCT, NT_167246.2:g.1093290_1093291insATTTGT, NT_167246.2:g.1093290_1093291insATTTGTTCATGCCT, NT_167247.1:g.1098860_1098861insATTTGT, NT_167247.1:g.1098860_1098861insATTTGTTCATGCCT, NT_167247.2:g.1093275_1093276insATTTGT, NT_167247.2:g.1093275_1093276insATTTGTTCATGCCT, NT_167248.2:g.1093570_1093585insATTTGT, NT_167248.2:g.1093570_1093585insATTTGTTCATGCCT, NT_167249.2:g.1136835_1136850insATTTGT, NT_167249.2:g.1136835_1136850insATTTGTTCATGCCT, XM_005249055.1:c.*65_*66insATTTGT, XM_005249055.1:c.*65_*66insATTTGTTCATGCCT, XM_005249056.1:c.*65_*66insATTTGT, XM_005249056.1:c.*65_*66insATTTGTTCATGCCT, XM_005249057.1:c.*280_*281insATTTGT, XM_005249057.1:c.*280_*281insATTTGTTCATGCCT, XM_005249058.1:c.*65_*66insATTTGT, XM_005249058.1:c.*65_*66insATTTGTTCATGCCT, XM_005272810.1:c.*65_*67insATTTGT, XM_005272810.1:c.*65_*67insATTTGTTCATGCCT, XM_005274964.1:c.*65_*66insATTTGT, XM_005274964.1:c.*65_*66insATTTGTTCATGCCT, XM_005274965.1:c.*65_*66insATTTGT, XM_005274965.1:c.*65_*66insATTTGTTCATGCCT, XM_005274966.1:c.*280_*281insATTTGT, XM_005274966.1:c.*280_*281insATTTGTTCATGCCT, XM_005274967.1:c.*65_*66insATTTGT, XM_005274967.1:c.*65_*66insATTTGTTCATGCCT, XM_005275119.1:c.*65_*66insATTTGT, XM_005275119.1:c.*65_*66insATTTGTTCATGCCT, XM_005275120.1:c.*65_*66insATTTGT, XM_005275120.1:c.*65_*66insATTTGTTCATGCCT, XM_005275121.1:c.*280_*281insATTTGT, XM_005275121.1:c.*280_*281insATTTGTTCATGCCT, XM_005275122.1:c.*65_*66insATTTGT, XM_005275122.1:c.*65_*66insATTTGTTCATGCCT, XM_005275246.1:c.*65_*66insATTTGT, XM_005275246.1:c.*65_*66insATTTGTTCATGCCT, XM_005275247.1:c.*65_*66insATTTGT, XM_005275247.1:c.*65_*66insATTTGTTCATGCCT, XM_005275248.1:c.*280_*281insATTTGT, XM_005275248.1:c.*280_*281insATTTGTTCATGCCT, XM_005275249.1:c.*65_*66insATTTGT, XM_005275249.1:c.*65_*66insATTTGTTCATGCCT, XM_005275394.1:c.*76_*80insATTTGT, XM_005275394.1:c.*76_*80insATTTGTTCATGCCT, XM_005275549.1:c.*76_*80insATTTGT, XM_005275549.1:c.*76_*80insATTTGTTCATGCCT, XM_005275550.1:c.*76_*80insATTTGT, XM_005275550.1:c.*76_*80insATTTGTTCATGCCT, XM_005275551.1:c.*291_*295insATTTGT, XM_005275551.1:c.*291_*295insATTTGTTCATGCCT, XM_005275552.1:c.*76_*80insATTTGT, XM_005275552.1:c.*76_*80insATTTGTTCATGCCT, XM_011547651.1:c.*65_*66insATTTGT, XM_011547651.1:c.*65_*66insATTTGTTCATGCCT, XM_011547882.1:c.*65_*66insATTTGT, XM_011547882.1:c.*65_*66insATTTGTTCATGCCT, XM_011548048.1:c.*65_*66insATTTGT, XM_011548048.1:c.*65_*66insATTTGTTCATGCCT, XM_011548236.1:c.*65_*80insATTTGT, XM_011548236.1:c.*65_*80insATTTGTTCATGCCT, XM_011548237.1:c.*65_*80insATTTGT, XM_011548237.1:c.*65_*80insATTTGTTCATGCCT, XM_011548430.1:c.*65_*80insATTTGT, XM_011548430.1:c.*65_*80insATTTGTTCATGCCT, XM_011548431.1:c.*65_*80insATTTGT, XM_011548431.1:c.*65_*80insATTTGTTCATGCCT, XR_241896.1:n.1692-1_1692insATTTGT, XR_241896.1:n.1692-1_1692insATTTGTTCATGCCT, XR_246963.1:n.1612-1_1613insATTTGT, XR_246963.1:n.1612-1_1613insATTTGTTCATGCCT, XR_247353.1:n.1692-1_1692insATTTGT, XR_247353.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247370.1:n.1692-1_1692insATTTGT, XR_247370.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247389.1:n.1692-1_1692insATTTGT, XR_247389.1:n.1692-1_1692insATTTGTTCATGCCT, XR_247402.1:n.1622_1626insATTTGT, XR_247402.1:n.1622_1626insATTTGTTCATGCCT, XR_247423.1:n.1680_1684insATTTGT, XR_247423.1:n.1680_1684insATTTGTTCATGCCT
- > ATTTGT
- > ATTTGTTCATGCCT
indel
No VIP available No Clinical Annotations available VA
rs3740066 NC_000010.10:g.101604207C>T, NC_000010.11:g.99844450C>T, NG_011798.1:g.66745C>T, NM_000392.4:c.3972C>T, NP_000383.1:p.Ile1324=, XM_005269536.1:c.3693C>T, XM_006717630.2:c.3276C>T, XP_005269593.1:p.Ile1231=, XP_006717693.1:p.Ile1092=, XR_945604.1:n.4161C>T, XR_945605.1:n.4036C>T, rs12780340, rs17216303, rs59292214
C > T
SNP
I1324I
No VIP available CA VA
rs374150125 NC_000001.10:g.40129002G>A, NC_000001.11:g.39663330G>A, NM_032526.2:c.538C>T, NP_115915.1:p.Arg180Ter
G > A
SNP
R180*
No VIP available CA VA
rs3749438 NC_000003.11:g.183705184G>A, NC_000003.12:g.183987396G>A, NM_001023587.2:c.591+374C>T, NM_001320032.1:c.-941+374C>T, NM_005688.3:c.591+374C>T, NR_135125.1:n.777+374C>T, XM_005247058.1:c.591+374C>T, XM_005247058.3:c.591+374C>T, XM_005247059.1:c.591+374C>T, XM_005247059.3:c.591+374C>T, XM_005247060.1:c.591+374C>T, XM_005247061.1:c.591+374C>T, XM_005247062.1:c.-941+374C>T, XM_011512314.1:c.591+374C>T, XM_011512315.1:c.591+374C>T, XM_011512316.1:c.-941+374C>T, rs117658700, rs17218232, rs60372003
G > A
SNP
No VIP available No Clinical Annotations available VA
rs376073289
C > A
C > T
SNP
R208L/Q
No VIP available CA VA
rs3772809 NC_000003.11:g.124462824A>G, NC_000003.12:g.124743977A>G, NG_017037.1:g.18612A>G, NM_000373.3:c.1336A>G, NP_000364.1:p.Ile446Val, NR_033434.1:n.1288A>G, NR_033437.1:n.1541A>G, XM_005247741.1:c.1060A>G, XM_005247742.1:c.802A>G, XM_005247743.1:c.802A>G, XM_005247744.1:c.511A>G, XP_005247798.1:p.Ile354Val, XP_005247799.1:p.Ile268Val, XP_005247800.1:p.Ile268Val, XP_005247801.1:p.Ile171Val, rs17843849, rs52824449
A > -
A > G
SNP
I446V
No VIP available CA VA
rs3772810 NC_000003.11:g.124462959A>G, NC_000003.12:g.124744112A>G, NG_017037.1:g.18747A>G, NM_000373.3:c.*28A>G, NR_033434.1:n.1423A>G, NR_033437.1:n.1676A>G, XM_005247741.1:c.*28A>G, XM_005247742.1:c.*28A>G, XM_005247743.1:c.*28A>G, XM_005247744.1:c.*28A>G, rs17843850
A > -
A > G
SNP
No VIP available No Clinical Annotations available VA
rs3812718 AB093548.1:c.603-91G>A, NC_000002.11:g.166909544C>T, NC_000002.12:g.166053034C>T, NG_011906.1:g.25606G>A, NM_001165963.1:c.603-91G>A, NM_001165964.1:c.603-91G>A, NM_001202435.1:c.603-91G>A, NM_006920.4:c.603-91G>A, XM_011511598.1:c.603-91G>A, XM_011511599.1:c.603-91G>A, XM_011511600.1:c.603-91G>A, XM_011511601.1:c.603-91G>A, XM_011511602.1:c.603-91G>A, XM_011511603.1:c.603-91G>A, XM_011511604.1:c.603-91G>A, XM_011511605.1:c.603-91G>A, XM_011511606.1:c.603-91G>A, XM_011511607.1:c.603-91G>A, XR_922981.1:n.787-91G>A, rs57229005
C > T
SNP
No VIP available CA VA
rs3917412 NC_000001.10:g.169700502T>C, NC_000001.11:g.169731361T>C, NG_012124.1:g.7719A>G, NM_000450.2:c.529+474A>G, rs56521004, rs57050939, rs60581130
T > C
SNP
No VIP available No Clinical Annotations available VA
rs3918289
G > A
G > C
SNP
N635N
rs3918290 NC_000001.10:g.97915614C>T, NC_000001.11:g.97450058C>T, NG_008807.2:g.476002G>A, NM_000110.3:c.1905+1G>A, XM_005270561.1:c.1794+1G>A, XM_005270562.1:c.1689+1G>A, XM_005270562.3:c.1689+1G>A, XM_005270563.1:c.1905+1G>A, XM_006710397.2:c.1905+1G>A, rs199469548, rs386589337
C > G
C > T
SNP
No VIP available No Clinical Annotations available VA
rs4073 NC_000004.11:g.74606024A>T, NC_000004.12:g.73740307A>T, NG_029889.1:g.4802A>T, NM_000584.3:c.-352A>T
A > T
SNP
No VIP available CA VA
rs4149056 NC_000012.11:g.21331549T>C, NC_000012.12:g.21178615T>C, NG_011745.1:g.52422T>C, NM_006446.4:c.521T>C, NP_006437.3:p.Val174Ala, rs52816141, rs60037639
T > C
SNP
V174A
No VIP available No Clinical Annotations available VA
rs4243761 NC_000015.10:g.26037644G>T, NC_000015.9:g.26282791G>T, NR_040082.1:n.896-11481G>T, rs17558024, rs61389947
G > T
SNP
No VIP available No Clinical Annotations available VA
rs4402960 NC_000003.11:g.185511687G>T, NC_000003.12:g.185793899G>T, NG_011602.1:g.36141C>A, NM_001007225.1:c.239+29254C>A, NM_001291869.1:c.239+29254C>A, NM_001291872.1:c.50+27113C>A, NM_001291873.1:c.50+27113C>A, NM_001291874.1:c.50+27113C>A, NM_001291875.1:c.-106+27113C>A, NM_006548.4:c.239+29254C>A, XM_005247073.1:c.50+27113C>A, XM_005247074.1:c.50+27113C>A, XM_005247075.1:c.50+27113C>A, XM_011512338.1:c.239+29254C>A, XM_011512339.1:c.239+29254C>A, XM_011512341.1:c.239+29254C>A, XR_427358.2:n.318+29254C>A, rs58419650
G > T
SNP
No VIP available No Clinical Annotations available VA
rs4426527 NC_000002.11:g.241817516A>G, NC_000002.12:g.240878099A>G, NG_008005.1:g.14355A>G, NM_000030.2:c.1020A>G, NP_000021.1:p.Ile340Met, rs17501831
A > G
SNP
I340M
rs45445694 NC_000018.10:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NC_000018.9:g.657646_657673CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NG_028255.1:g.5043_5070CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], NM_001012716.2:c.*34+169_*34+196CGGGACGGAGGCAGGCCAAGTGGCGCGG[2][3][4][7][8][9], NM_001071.2:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258137.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9], XM_005258138.1:c.-97_-70CCGCGCCACTTGGCCTGCCTCCGTCCCG[2][3][4][7][8][9]
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
CCGCGC(CACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
microsatellite
No VIP available No Clinical Annotations available VA
rs45589337 NC_000001.10:g.98144726T>C, NC_000001.11:g.97679170T>C, NG_008807.2:g.246890A>G, NM_000110.3:c.775A>G, NP_000101.2:p.Lys259Glu, XM_005270561.1:c.664A>G, XM_005270562.1:c.775A>G, XM_005270562.3:c.775A>G, XM_005270563.1:c.775A>G, XM_005270564.1:c.775A>G, XM_006710397.2:c.775A>G, XP_005270618.1:p.Lys222Glu, XP_005270619.1:p.Lys259Glu, XP_005270619.2:p.Lys259Glu, XP_005270620.1:p.Lys259Glu, XP_005270621.1:p.Lys259Glu, XP_006710460.1:p.Lys259Glu, rs59034382
T > C
SNP
K259E
No VIP available CA VA
rs4646 NC_000015.10:g.51210647A>C, NC_000015.9:g.51502844A>C, NG_007982.1:g.132952T>G, NM_000103.3:c.*161T>G, NM_031226.2:c.*161T>G, XM_005254190.1:c.*161T>G, XM_005254191.1:c.*161T>G, XM_005254192.1:c.*161T>G, XR_932222.1:n.99-67336A>C, rs16964193, rs3191019, rs58335330
A > C
SNP
No VIP available No Clinical Annotations available VA
rs470119 NC_000022.10:g.50966914T>C, NC_000022.11:g.50528485T>C, NG_011860.1:g.6601A>G, NG_016235.1:g.2955A>G, NM_001113755.2:c.516+27A>G, NM_001113756.2:c.516+27A>G, NM_001257988.1:c.516+27A>G, NM_001257989.1:c.516+27A>G, NM_001953.4:c.516+27A>G, rs56469193, rs58161200
T > C
T > G
SNP
No VIP available No Clinical Annotations available VA
rs4880 NC_000006.11:g.160113872A>G, NC_000006.12:g.159692840A>G, NG_008729.1:g.5482T>C, NM_000636.2:c.47T>C, NM_001024465.1:c.47T>C, NM_001024466.1:c.47T>C, NP_000627.2:p.Val16Ala, NP_001019636.1:p.Val16Ala, NP_001019637.1:p.Val16Ala, rs1141717, rs11551083, rs116851270, rs17362379, rs17405198, rs17856520, rs1799725, rs3205539, rs386596107
A > G
SNP
V16A
No VIP available No Clinical Annotations available VA
rs4932551 NC_000015.10:g.91528728G>C, NC_000015.9:g.92071958G>C, rs17772730, rs56529178, rs57899076, rs58182249
G > C
SNP
No VIP available No Clinical Annotations available VA
rs4970722 NC_000001.10:g.98352053A>T, NC_000001.11:g.97886497A>T, NG_008807.2:g.39563T>A, NM_000110.3:c.40-3123T>A, NM_001160301.1:c.40-3123T>A, XM_005270561.1:c.39+34387T>A, XM_005270562.1:c.40-3123T>A, XM_005270562.3:c.40-3123T>A, XM_005270563.1:c.40-3123T>A, XM_005270564.1:c.40-3123T>A, XM_006710397.2:c.40-3123T>A, rs56417891, rs60365769, rs61301156
A > T
SNP
No VIP available No Clinical Annotations available VA
rs5009910 NC_000002.11:g.31249014T>C, NC_000002.12:g.31026148T>C, NM_001253826.1:c.315-59846A>G, NM_001253827.1:c.70-33141A>G, NM_024572.3:c.130-33141A>G, NR_045602.1:n.903-33141A>G, XM_005264559.1:c.25-33141A>G, XM_011533104.1:c.448-33141A>G, XM_011533105.1:c.70-33141A>G, XM_011533106.1:c.43-33141A>G, rs56597185, rs59566663, rs60531112
T > C
SNP
No VIP available No Clinical Annotations available VA
rs501415 NC_000018.10:g.56651611A>G, NC_000018.9:g.54318842A>G, NM_015285.2:c.-20+35A>G, NM_052834.2:c.-20+35A>G, XM_005266673.1:c.-20+35A>G, XM_006722431.1:c.-207A>G, XM_011525888.1:c.-20+35A>G
A > G
SNP
No VIP available No Clinical Annotations available VA
rs55674432 NC_000001.10:g.97564172C>A, NC_000001.11:g.97098616C>A, NG_008807.2:g.827444G>T, NM_000110.3:c.2639G>T, NP_000101.2:p.Gly880Val, NR_046590.1:n.64+2630C>A, XM_005270561.1:c.2528G>T, XM_005270562.1:c.2423G>T, XM_005270562.3:c.2423G>T, XP_005270618.1:p.Gly843Val, XP_005270619.1:p.Gly808Val, XP_005270619.2:p.Gly808Val
C > A
SNP
G880V
No VIP available CA VA
rs55886062 NC_000001.10:g.97981343A>C, NC_000001.11:g.97515787A>C, NG_008807.2:g.410273T>G, NM_000110.3:c.1679T>G, NP_000101.2:p.Ile560Ser, XM_005270561.1:c.1568T>G, XM_005270562.1:c.1524+33773T>G, XM_005270562.3:c.1524+33773T>G, XM_005270563.1:c.1679T>G, XM_005270564.1:c.1679T>G, XM_006710397.2:c.1679T>G, XP_005270618.1:p.Ile523Ser, XP_005270620.1:p.Ile560Ser, XP_005270621.1:p.Ile560Ser, XP_006710460.1:p.Ile560Ser, rs199469542
A > C
SNP
I560S
No VIP available No Clinical Annotations available VA
rs55971861
T > G
SNP
I636L
No VIP available CA VA
rs56038477 NC_000001.10:g.98039419C>T, NC_000001.11:g.97573863C>T, NG_008807.2:g.352197G>A, NM_000110.3:c.1236G>A, NP_000101.2:p.Glu412=, XM_005270561.1:c.1125G>A, XM_005270562.1:c.1236G>A, XM_005270562.3:c.1236G>A, XM_005270563.1:c.1236G>A, XM_005270564.1:c.1236G>A, XM_006710397.2:c.1236G>A, XP_005270618.1:p.Glu375=, XP_005270619.1:p.Glu412=, XP_005270619.2:p.Glu412=, XP_005270620.1:p.Glu412=, XP_005270621.1:p.Glu412=, XP_006710460.1:p.Glu412=, rs199469533, rs61730901
C > T
SNP
E412E
No VIP available No Clinical Annotations available VA
rs56160474 NC_000001.10:g.97544258A>G, NC_000001.11:g.97078702A>G, NG_008807.2:g.847358T>C, NM_000110.3:c.*274T>C, XM_005270561.1:c.*274T>C, XM_005270562.1:c.*274T>C, XM_005270562.3:c.*274T>C
A > G
SNP
No VIP available No Clinical Annotations available VA
rs56276561
C > T
SNP
No VIP available No Clinical Annotations available VA
rs56293913
A > G
SNP
No VIP available No Clinical Annotations available VA
rs5906072 NC_000023.10:g.45640507T>C, NC_000023.11:g.45781104T>C, NW_004070879.1:g.105769T>C, rs59017433, rs59105359, rs6609373
T > C
SNP
No VIP available No Clinical Annotations available VA
rs59086055 NC_000001.10:g.97915746G>A, NC_000001.11:g.97450190G>A, NG_008807.2:g.475870C>T, NM_000110.3:c.1774C>T, NP_000101.2:p.Arg592Trp, XM_005270561.1:c.1663C>T, XM_005270562.1:c.1558C>T, XM_005270562.3:c.1558C>T, XM_005270563.1:c.1774C>T, XM_006710397.2:c.1774C>T, XP_005270618.1:p.Arg555Trp, XP_005270619.1:p.Arg520Trp, XP_005270619.2:p.Arg520Trp, XP_005270620.1:p.Arg592Trp, XP_006710460.1:p.Arg592Trp
G > A
SNP
R592W
No VIP available No Clinical Annotations available VA
rs5934731 NC_000023.10:g.9935844C>T, NC_000023.11:g.9967804C>T, NM_001195081.1:c.447C>T, NP_001182010.1:p.Tyr149=, XM_006724448.2:c.579C>T, XP_006724511.2:p.Tyr193=, rs56455686, rs57784312, rs6640581
C > T
SNP
Y149Y
No VIP available No Clinical Annotations available VA
rs60139309 NC_000001.10:g.97658665T>C, NC_000001.11:g.97193109T>C, NG_008807.2:g.732951A>G, NM_000110.3:c.2582A>G, NP_000101.2:p.Lys861Arg, NR_046590.1:n.65-72305T>C, XM_005270561.1:c.2471A>G, XM_005270562.1:c.2366A>G, XM_005270562.3:c.2366A>G, XM_006710397.2:c.2582A>G, XP_005270618.1:p.Lys824Arg, XP_005270619.1:p.Lys789Arg, XP_005270619.2:p.Lys789Arg, XP_006710460.1:p.Lys861Arg, rs61730905
T > C
SNP
K861R
No VIP available No Clinical Annotations available VA
rs60511679
A > C
SNP
V732G
No VIP available No Clinical Annotations available VA
rs61622928
C > T
SNP
M406I
No VIP available No Clinical Annotations available VA
rs61757362 NC_000001.10:g.97544662G>A, NC_000001.11:g.97079106G>A, NG_008807.2:g.846954C>T, NM_000110.3:c.2948C>T, NP_000101.2:p.Thr983Ile, XM_005270561.1:c.2837C>T, XM_005270562.1:c.2732C>T, XM_005270562.3:c.2732C>T, XP_005270618.1:p.Thr946Ile, XP_005270619.1:p.Thr911Ile, XP_005270619.2:p.Thr911Ile
G > A
SNP
T983I
No VIP available No Clinical Annotations available VA
rs61764370 NC_000012.11:g.25360224A>C, NC_000012.12:g.25207290A>C, NG_007524.1:g.48631T>G, NM_004985.4:c.*2505T>G, NM_033360.3:c.*2626T>G, XM_011520653.1:c.*2505T>G, rs200812391
A > C
SNP
No VIP available No Clinical Annotations available VA
rs6458232 NC_000006.11:g.41629726C>A, NC_000006.12:g.41661988C>A, rs59690886
C > A
SNP
No VIP available CA VA
rs662 NC_000007.13:g.94937446T>C, NC_000007.14:g.95308134T>C, NG_008779.1:g.21439A>G, NM_000446.5:c.575A>G, NP_000437.3:p.Gln192Arg, rs11567868, rs13306697, rs17773773, rs386603940, rs60480675
T > C
SNP
Q192R
No VIP available No Clinical Annotations available VA
rs664393 NC_000013.10:g.29071001T>C, NC_000013.11:g.28496864T>C, NG_012003.1:g.3265A>G, NM_001159920.1:c.-2021A>G, NM_001160030.1:c.-2021A>G, NM_001160031.1:c.-2021A>G, NM_002019.4:c.-2021A>G, XM_011535014.1:c.-2021A>G, rs59180014
T > C
SNP
No VIP available No Clinical Annotations available VA
rs6668296
C > T
SNP
No VIP available CA VA
rs67376798 NC_000001.10:g.97547947T>A, NC_000001.11:g.97082391T>A, NG_008807.2:g.843669A>T, NM_000110.3:c.2846A>T, NP_000101.2:p.Asp949Val, XM_005270561.1:c.2735A>T, XM_005270562.1:c.2630A>T, XM_005270562.3:c.2630A>T, XP_005270618.1:p.Asp912Val, XP_005270619.1:p.Asp877Val, XP_005270619.2:p.Asp877Val, rs199469564, rs386467430, rs67376799
T > A
SNP
D949V
No VIP available No Clinical Annotations available VA
rs6752303 NC_000002.11:g.31247485T>C, NC_000002.12:g.31024619T>C, NM_001253826.1:c.315-58317A>G, NM_001253827.1:c.70-31612A>G, NM_024572.3:c.130-31612A>G, NR_045602.1:n.903-31612A>G, XM_005264559.1:c.25-31612A>G, XM_011533104.1:c.448-31612A>G, XM_011533105.1:c.70-31612A>G, XM_011533106.1:c.43-31612A>G, rs111184598, rs56566923, rs56952366, rs61068192
T > C
SNP
No VIP available No Clinical Annotations available VA
rs6769511 NC_000003.11:g.185530290T>C, NC_000003.12:g.185812502T>C, NG_011602.1:g.17538A>G, NM_001007225.1:c.239+10651A>G, NM_001291869.1:c.239+10651A>G, NM_001291872.1:c.50+8510A>G, NM_001291873.1:c.50+8510A>G, NM_001291874.1:c.50+8510A>G, NM_001291875.1:c.-106+8510A>G, NM_006548.4:c.239+10651A>G, XM_005247073.1:c.50+8510A>G, XM_005247074.1:c.50+8510A>G, XM_005247075.1:c.50+8510A>G, XM_011512338.1:c.239+10651A>G, XM_011512339.1:c.239+10651A>G, XM_011512341.1:c.239+10651A>G, XR_427358.2:n.318+10651A>G, rs17436166, rs57496207
T > C
SNP
No VIP available No Clinical Annotations available VA
rs6877011 NC_000005.10:g.180602471C>G, NC_000005.9:g.180029471C>G, NG_011536.1:g.52154G>C, NM_182925.4:c.*721G>C, XM_011534477.1:c.*721G>C, XM_011534478.1:c.*721G>C, XM_011534482.1:c.*721G>C, XM_011534483.1:c.*721G>C, XM_011534484.1:c.*721G>C, rs59862001
C > G
SNP
No VIP available CA VA
rs699947 NC_000006.11:g.43736389A>C, NC_000006.12:g.43768652A>C, NG_008732.1:g.3437A>C, NM_001025366.2:c.-2055A>C, NM_001025367.2:c.-2055A>C, NM_001025368.2:c.-2055A>C, NM_001025369.2:c.-2055A>C, NM_001025370.2:c.-2055A>C, NM_001033756.2:c.-2055A>C, NM_001171622.1:c.-2055A>C, NM_001171623.1:c.-2595A>C, NM_001171624.1:c.-2595A>C, NM_001171625.1:c.-2595A>C, NM_001171626.1:c.-2595A>C, NM_001171627.1:c.-2595A>C, NM_001171628.1:c.-2595A>C, NM_001171629.1:c.-2595A>C, NM_001171630.1:c.-2595A>C, NM_001204384.1:c.-2595A>C, NM_001204385.1:c.-2055A>C, NM_001317010.1:c.-2595A>C, NM_003376.5:c.-2055A>C, rs1310065, rs36208051, rs61399354
A > C
SNP
No VIP available No Clinical Annotations available VA
rs7121 NC_000020.10:g.57478807C>T, NC_000020.11:g.58903752C>T, NG_016194.1:g.69013C>T, NM_000516.5:c.393C>T, NM_001077488.3:c.396C>T, NM_001077489.3:c.348C>T, NM_001077490.2:c.*254C>T, NM_001309840.1:c.216C>T, NM_001309861.1:c.216C>T, NM_016592.3:c.*299C>T, NM_080425.3:c.2322C>T, NM_080426.3:c.351C>T, NP_000507.1:p.Ile131=, NP_001070956.1:p.Ile132=, NP_001070957.1:p.Ile116=, NP_001296769.1:p.Ile72=, NP_001296790.1:p.Ile72=, NP_536350.2:p.Ile774=, NP_536351.1:p.Ile117=, NR_003259.1:n.483C>T, XM_005260396.1:c.336C>T, XM_005260397.1:c.297C>T, XM_005260398.1:c.252C>T, XM_005260399.1:c.171C>T, XM_005260400.1:c.171C>T, XM_005260401.1:c.171C>T, XM_005260402.1:c.219C>T, XP_005260453.1:p.Ile112=, XP_005260454.1:p.Ile99=, XP_005260455.1:p.Ile84=, XP_005260456.1:p.Ile57=, XP_005260457.1:p.Ile57=, XP_005260458.1:p.Ile57=, XP_005260459.1:p.Ile73=, XR_244140.1:n.1443C>T, rs1053389, rs17829840, rs3171206, rs3730167, rs61041002
C > -
C > T
SNP
I131I
No VIP available No Clinical Annotations available VA
rs715171 NC_000023.10:g.9341848C>T, NC_000023.11:g.9373808C>T, rs61410664
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7170769 NC_000015.10:g.91526975C>T, NC_000015.9:g.92070205C>T, rs58543442
C > T
SNP
No VIP available CA VA
rs717620 NC_000010.10:g.101542578C>T, NC_000010.11:g.99782821C>T, NG_011798.1:g.5116C>T, NM_000392.4:c.-24C>T, XM_005269536.1:c.-24C>T, XM_006717631.2:c.-24C>T, XM_011539291.1:c.-24C>T, XR_945604.1:n.166C>T, XR_945605.1:n.168C>T, rs17216163, rs386485129, rs58371376
C > T
SNP
No VIP available CA VA
rs7194667 NC_000016.10:g.48208987T>G, NC_000016.9:g.48242898T>G, NG_011522.1:g.31191A>C, NM_032583.3:c.1609-491A>C, NM_033151.3:c.1609-491A>C, NM_145186.2:c.1609-491A>C, XM_005256208.1:c.1609-491A>C, XM_005256209.1:c.1609-491A>C, XM_005256210.1:c.1609-491A>C, XM_011523396.1:c.1411-491A>C, XM_011523397.1:c.652-491A>C, XR_243432.1:n.1714-491A>C, rs61621252
T > G
SNP
No VIP available No Clinical Annotations available VA
rs72547601 NC_000001.10:g.97544677T>C, NC_000001.11:g.97079121T>C, NG_008807.2:g.846939A>G, NM_000110.3:c.2933A>G, NP_000101.2:p.His978Arg, XM_005270561.1:c.2822A>G, XM_005270562.1:c.2717A>G, XM_005270562.3:c.2717A>G, XP_005270618.1:p.His941Arg, XP_005270619.1:p.His906Arg, XP_005270619.2:p.His906Arg
T > C
SNP
H978R
No VIP available No Clinical Annotations available VA
rs72547602
T > A
SNP
D974V
No VIP available CA VA
rs72549303 NC_000001.10:g.97915622delG, NC_000001.11:g.97450066delG, NG_008807.2:g.475994delC, NM_000110.3:c.1898delC, NP_000101.2:p.Pro633Glnfs, XM_005270561.1:c.1787delC, XM_005270562.1:c.1682delC, XM_005270562.3:c.1682delC, XM_005270563.1:c.1898delC, XM_006710397.2:c.1898delC, XP_005270618.1:p.Pro596Glnfs, XP_005270619.1:p.Pro561Glnfs, XP_005270619.2:p.Pro561Glnfs, XP_005270620.1:p.Pro633Glnfs, XP_006710460.1:p.Pro633Glnfs
G > -
G > G
indel
P633Q
No VIP available No Clinical Annotations available VA
rs72549304 NC_000001.10:g.98015165G>A, NC_000001.11:g.97549609G>A, NG_008807.2:g.376451C>T, NM_000110.3:c.1475C>T, NP_000101.2:p.Ser492Leu, XM_005270561.1:c.1364C>T, XM_005270562.1:c.1475C>T, XM_005270562.3:c.1475C>T, XM_005270563.1:c.1475C>T, XM_005270564.1:c.1475C>T, XM_006710397.2:c.1475C>T, XP_005270618.1:p.Ser455Leu, XP_005270619.1:p.Ser492Leu, XP_005270619.2:p.Ser492Leu, XP_005270620.1:p.Ser492Leu, XP_005270621.1:p.Ser492Leu, XP_006710460.1:p.Ser492Leu
G > A
SNP
S492L
No VIP available No Clinical Annotations available VA
rs72549305
T > C
SNP
I370V
No VIP available CA VA
rs72549306 NC_000001.10:g.98058899C>A, NC_000001.11:g.97593343C>A, NG_008807.2:g.332717G>T, NM_000110.3:c.1003G>T, NP_000101.2:p.Val335Leu, XM_005270561.1:c.892G>T, XM_005270562.1:c.1003G>T, XM_005270562.3:c.1003G>T, XM_005270563.1:c.1003G>T, XM_005270564.1:c.1003G>T, XM_006710397.2:c.1003G>T, XP_005270618.1:p.Val298Leu, XP_005270619.1:p.Val335Leu, XP_005270619.2:p.Val335Leu, XP_005270620.1:p.Val335Leu, XP_005270621.1:p.Val335Leu, XP_006710460.1:p.Val335Leu
C > A
SNP
V335L
No VIP available No Clinical Annotations available VA
rs72549307 NC_000001.10:g.98164955T>C, NC_000001.11:g.97699399T>C, NG_008807.2:g.226661A>G, NM_000110.3:c.632A>G, NP_000101.2:p.Tyr211Cys, XM_005270561.1:c.521A>G, XM_005270562.1:c.632A>G, XM_005270562.3:c.632A>G, XM_005270563.1:c.632A>G, XM_005270564.1:c.632A>G, XM_006710397.2:c.632A>G, XP_005270618.1:p.Tyr174Cys, XP_005270619.1:p.Tyr211Cys, XP_005270619.2:p.Tyr211Cys, XP_005270620.1:p.Tyr211Cys, XP_005270621.1:p.Tyr211Cys, XP_006710460.1:p.Tyr211Cys
T > C
SNP
Y211C
No VIP available No Clinical Annotations available VA
rs72549308 NC_000001.10:g.98164986T>G, NC_000001.11:g.97699430T>G, NG_008807.2:g.226630A>C, NM_000110.3:c.601A>C, NP_000101.2:p.Ser201Arg, XM_005270561.1:c.490A>C, XM_005270562.1:c.601A>C, XM_005270562.3:c.601A>C, XM_005270563.1:c.601A>C, XM_005270564.1:c.601A>C, XM_006710397.2:c.601A>C, XP_005270618.1:p.Ser164Arg, XP_005270619.1:p.Ser201Arg, XP_005270619.2:p.Ser201Arg, XP_005270620.1:p.Ser201Arg, XP_005270621.1:p.Ser201Arg, XP_006710460.1:p.Ser201Arg
T > G
SNP
S201R
No VIP available CA VA
rs72549309 NC_000001.10:g.98205971_98205974delATGA, NC_000001.11:g.97740415_97740418delATGA, NG_008807.2:g.185642_185645delTCAT, NM_000110.3:c.295_298delTCAT, NM_001160301.1:c.295_298delTCAT, NP_000101.2:p.Phe100Serfs, NP_001153773.1:p.Phe100Serfs, XM_005270561.1:c.184_187delTCAT, XM_005270562.1:c.295_298delTCAT, XM_005270562.3:c.295_298delTCAT, XM_005270563.1:c.295_298delTCAT, XM_005270564.1:c.295_298delTCAT, XM_006710397.2:c.295_298delTCAT, XP_005270618.1:p.Phe63Serfs, XP_005270619.1:p.Phe100Serfs, XP_005270619.2:p.Phe100Serfs, XP_005270620.1:p.Phe100Serfs, XP_005270621.1:p.Phe100Serfs, XP_006710460.1:p.Phe100Serfs
ATGA > -
indel
F100S
No VIP available No Clinical Annotations available VA
rs72549310
G > A
SNP
R21*
No VIP available CA VA
rs72728438 NC_000001.10:g.97847874T>C, NC_000001.11:g.97382318T>C, NG_008807.2:g.543742A>G, NM_000110.3:c.1974+75A>G, XM_005270561.1:c.1863+75A>G, XM_005270562.1:c.1758+75A>G, XM_005270562.3:c.1758+75A>G, XM_005270563.1:c.1974+75A>G, XM_006710397.2:c.1974+75A>G, XR_947619.1:n.1347-1316T>C, XR_947620.1:n.1125-1316T>C, XR_947621.1:n.1347-1316T>C, rs199469549, rs74105154
T > C
SNP
No VIP available No Clinical Annotations available VA
rs72975710
G > A
G > C
SNP
A450V
No VIP available CA VA
rs7325568 NC_000013.10:g.40818284C>T, NC_000013.11:g.40244147C>T
C > T
SNP
No VIP available CA VA
rs75017182 NC_000001.10:g.98045449G>C, NC_000001.11:g.97579893G>C, NG_008807.2:g.346167C>G, NM_000110.3:c.1129-5923C>G, XM_005270561.1:c.1018-5923C>G, XM_005270562.1:c.1129-5923C>G, XM_005270562.3:c.1129-5923C>G, XM_005270563.1:c.1129-5923C>G, XM_005270564.1:c.1129-5923C>G, XM_006710397.2:c.1129-5923C>G
G > C
SNP
No VIP available No Clinical Annotations available VA
rs7608731 NC_000002.11:g.31249974T>C, NC_000002.12:g.31027108T>C, NM_001253826.1:c.315-60806A>G, NM_001253827.1:c.70-34101A>G, NM_024572.3:c.130-34101A>G, NR_045602.1:n.903-34101A>G, XM_005264559.1:c.25-34101A>G, XM_011533104.1:c.448-34101A>G, XM_011533105.1:c.70-34101A>G, XM_011533106.1:c.43-34101A>G, rs56452495, rs57143999
T > C
SNP
No VIP available No Clinical Annotations available VA
rs7664413 NC_000004.11:g.177608707C>T, NC_000004.12:g.176687553C>T, NG_034216.1:g.110193G>A, NM_005429.4:c.812-33G>A, XR_939498.1:n.260+7803C>T, XR_939499.1:n.209+17844C>T, rs58304891
C > T
SNP
No VIP available No Clinical Annotations available VA
rs7667298 NC_000004.11:g.55991731T>C, NC_000004.12:g.55125564T>C, NG_012004.1:g.5032A>G, NM_002253.2:c.-271A>G, rs386485376, rs60563091
T > C
SNP
No VIP available CA VA
rs7699188 NC_000004.11:g.89096061G>A, NC_000004.12:g.88174909G>A, NG_032067.2:g.61414C>T, NM_001257386.1:c.-19-34895C>T, XM_005263355.1:c.-19-34895C>T, XM_005263355.2:c.-19-34895C>T, XM_011532420.1:c.-19-34895C>T, rs57955088
G > A
G > C
SNP
No VIP available No Clinical Annotations available VA
rs770063251 NC_000008.10:g.105436493C>T, NC_000008.11:g.104424265C>T, NG_008840.1:g.47785G>A, NM_001385.2:c.1217G>A, NP_001376.1:p.Trp406Ter, XM_005250818.1:c.1217G>A, XM_005250818.2:c.1217G>A, XM_005250819.1:c.1217G>A, XM_006716518.2:c.1058G>A, XM_011516903.1:c.1217G>A, XM_011516904.1:c.1217G>A, XP_005250875.1:p.Trp406Ter, XP_005250876.1:p.Trp406Ter, XP_006716581.1:p.Trp353Ter, XP_011515205.1:p.Trp406Ter, XP_011515206.1:p.Trp406Ter
C > T
SNP
W406*
No VIP available No Clinical Annotations available VA
rs780093 NC_000002.11:g.27742603T>C, NC_000002.12:g.27519736T>C, NG_028024.1:g.27898T>C, NM_001486.3:c.1572+799T>C, XM_005264256.1:c.1566+799T>C, XM_005264257.1:c.1503+799T>C, XM_005264258.1:c.1002+799T>C, XM_011532761.1:c.1419+799T>C, XM_011532762.1:c.1002+799T>C, rs386613274, rs61268282, rs8179238
T > C
SNP
No VIP available No Clinical Annotations available VA
rs780094 NC_000002.11:g.27741237T>C, NC_000002.12:g.27518370T>C, NG_028024.1:g.26532T>C, NM_001486.3:c.1423-418T>C, XM_005264256.1:c.1417-418T>C, XM_005264257.1:c.1354-418T>C, XM_005264258.1:c.853-418T>C, XM_011532761.1:c.1270-418T>C, XM_011532762.1:c.853-418T>C, rs17705107, rs386613275, rs59441336
T > C
SNP
No VIP available No Clinical Annotations available VA
rs78060119 NC_000001.10:g.98039499C>A, NC_000001.11:g.97573943C>A, NG_008807.2:g.352117G>T, NM_000110.3:c.1156G>T, NP_000101.2:p.Glu386Ter, XM_005270561.1:c.1045G>T, XM_005270562.1:c.1156G>T, XM_005270562.3:c.1156G>T, XM_005270563.1:c.1156G>T, XM_005270564.1:c.1156G>T, XM_006710397.2:c.1156G>T, XP_005270618.1:p.Glu349Ter, XP_005270619.1:p.Glu386Ter, XP_005270619.2:p.Glu386Ter, XP_005270620.1:p.Glu386Ter, XP_005270621.1:p.Glu386Ter, XP_006710460.1:p.Glu386Ter, rs386508634
C > A
SNP
E386*
No VIP available No Clinical Annotations available VA
rs7952081 NC_000011.10:g.67557462G>A, NC_000011.9:g.67324933G>A, rs56809733
G > A
SNP
No VIP available No Clinical Annotations available VA
rs7993418 NC_000013.10:g.28883061G>A, NC_000013.11:g.28308924G>A, NG_012003.1:g.191205C>T, NM_002019.4:c.3639C>T, NP_002010.2:p.Tyr1213=, rs117224149, rs57281829
G > A
SNP
Y1213Y
No VIP available No Clinical Annotations available VA
rs80081766 NC_000001.10:g.98348908C>T, NC_000001.11:g.97883352C>T, NG_008807.2:g.42708G>A, NM_000110.3:c.62G>A, NM_001160301.1:c.62G>A, NP_000101.2:p.Arg21Gln, NP_001153773.1:p.Arg21Gln, XM_005270561.1:c.39+37532G>A, XM_005270562.1:c.62G>A, XM_005270562.3:c.62G>A, XM_005270563.1:c.62G>A, XM_005270564.1:c.62G>A, XM_006710397.2:c.62G>A, XP_005270619.1:p.Arg21Gln, XP_005270619.2:p.Arg21Gln, XP_005270620.1:p.Arg21Gln, XP_005270621.1:p.Arg21Gln, XP_006710460.1:p.Arg21Gln, rs386508633
C > T
SNP
R21Q
No VIP available No Clinical Annotations available VA
rs8056100 NC_000016.10:g.48226719G>A, NC_000016.9:g.48260630G>A, NG_011522.1:g.13459C>T, NM_032583.3:c.395+1087C>T, NM_033151.3:c.395+1087C>T, NM_145186.2:c.395+1087C>T, XM_005256208.1:c.395+1087C>T, XM_005256209.1:c.395+1087C>T, XM_005256210.1:c.395+1087C>T, XM_011523396.1:c.197+1087C>T, XR_243432.1:n.500+1087C>T, rs58118497
G > A
SNP
No VIP available No Clinical Annotations available VA
rs8071253 NC_000017.10:g.76184467G>A, NC_000017.11:g.78188386G>A, NM_001010982.4:c.63+953G>A, NM_001145526.2:c.63+953G>A, NM_003258.4:c.-1392C>T, NR_027083.1:n.117+953G>A, XM_011524326.1:c.63+953G>A, XM_011524327.1:c.-292+953G>A, XM_011524328.1:c.-303+953G>A, XM_011524329.1:c.-291-2584G>A, XM_011524330.1:c.-292+1556G>A, XM_011524331.1:c.-206+953G>A, XM_011524332.1:c.-217+953G>A, XM_011524333.1:c.63+953G>A, XM_011524334.1:c.-206+953G>A, XM_011524335.1:c.-206+953G>A, XM_011524336.1:c.63+953G>A, XM_011524337.1:c.63+953G>A, XR_934369.1:n.76+953G>A
G > A
SNP
No VIP available No Clinical Annotations available VA
rs8175347
(TA)6 > (TA)5
(TA)6 > (TA)7
(TA)6 > (TA)8
microsatellite
No VIP available No Clinical Annotations available VA
rs833061 NC_000006.11:g.43737486C>T, NC_000006.12:g.43769749C>T, NG_008732.1:g.4534C>T, NM_001025366.2:c.-958C>T, NM_001025367.2:c.-958C>T, NM_001025368.2:c.-958C>T, NM_001025369.2:c.-958C>T, NM_001025370.2:c.-958C>T, NM_001033756.2:c.-958C>T, NM_001171622.1:c.-958C>T, NM_001171623.1:c.-1498C>T, NM_001171624.1:c.-1498C>T, NM_001171625.1:c.-1498C>T, NM_001171626.1:c.-1498C>T, NM_001171627.1:c.-1498C>T, NM_001171628.1:c.-1498C>T, NM_001171629.1:c.-1498C>T, NM_001171630.1:c.-1498C>T, NM_001204384.1:c.-1498C>T, NM_001204385.1:c.-958C>T, NM_001317010.1:c.-1498C>T, NM_003376.5:c.-958C>T, rs36208046, rs60746584
C > T
SNP
No VIP available No Clinical Annotations available VA
rs854560 NC_000007.13:g.94946084A>T, NC_000007.14:g.95316772A>T, NG_008779.1:g.12801T>A, NM_000446.5:c.163T>A, NP_000437.3:p.Leu55Met, rs1138340, rs11567862, rs117860432, rs17434839, rs1801051, rs2228157, rs3179555, rs3202100, rs57937067
A > T
SNP
L55M
No VIP available CA VA
rs861539 NC_000014.8:g.104165753G>A, NC_000014.9:g.103699416G>A, NG_011516.1:g.21071C>T, NG_012307.1:g.75229G>A, NM_001100118.1:c.722C>T, NM_001100119.1:c.722C>T, NM_001130107.1:c.1782-1239G>A, NM_005432.3:c.722C>T, NM_182923.3:c.1651-1239G>A, NP_001093588.1:p.Thr241Met, NP_001093589.1:p.Thr241Met, NP_005423.1:p.Thr241Met, XM_005267599.1:c.1924-1239G>A, XM_005267600.1:c.*17-1239G>A, XM_005267602.1:c.1897-1239G>A, XM_005267603.1:c.*17-1239G>A, XM_005267604.1:c.1857-1239G>A, XM_005267605.1:c.1849-1239G>A, XM_005267606.1:c.*17-1239G>A, XM_005267607.1:c.1830-1239G>A, XM_005267608.1:c.1825-1239G>A, XM_005267609.1:c.1822-1239G>A, XM_005267610.1:c.*46-1239G>A, XM_005267612.1:c.*17-1239G>A, XM_005267613.1:c.1758-1239G>A, XM_005267614.1:c.1755-1239G>A, XM_005267615.1:c.1726-1239G>A, XM_005267616.1:c.*17-1239G>A, XM_005267617.1:c.1699-1239G>A, XM_005267618.1:c.*17-1239G>A, XM_005267624.1:c.1624-1239G>A, XM_005268045.1:c.722C>T, XM_005268046.1:c.722C>T, XM_005268047.1:c.722C>T, XM_011537138.1:c.722C>T, XP_005268102.1:p.Thr241Met, XP_005268103.1:p.Thr241Met, XP_005268104.1:p.Thr241Met, XP_011535440.1:p.Thr241Met, rs1734804, rs17435402, rs17850783, rs3212111, rs56934996
G > A
SNP
T241M
No VIP available CA VA
rs895819 NC_000019.10:g.13836478T>C, NC_000019.9:g.13947292T>C, NR_029495.1:n.182A>G, NR_029497.1:n.-119A>G, NR_029501.1:n.40A>G, NR_036515.1:n.-189A>G, rs117072305, rs61371382
T > C
SNP
No VIP available CA VA
rs9344 NC_000011.10:g.69648142G>A, NC_000011.9:g.69462910G>A, NG_007375.1:g.12038G>A, NM_053056.2:c.723G>A, NP_444284.1:p.Pro241=, XM_006718653.2:c.747G>A, XP_006718716.1:p.Pro249=, rs1131451, rs11557586, rs17295377, rs17349816, rs17359282, rs17852153, rs2227951, rs3191361, rs59807553, rs603965
G > A
SNP
P241P
No VIP available CA VA
rs9380142 NC_000006.11:g.29798794A=, NC_000006.11:g.29798794A>G, NC_000006.12:g.29831017A=, NC_000006.12:g.29831017A>G, NG_029039.1:g.9039A=, NG_029039.1:g.9039A>G, NM_002127.5:c.*278A=, NM_002127.5:c.*278A>G, NT_113891.3:g.1314593A=, NT_113891.3:g.1314593A>G, NT_167244.2:g.1096643A=, NT_167244.2:g.1096643A>G, NT_167245.1:g.1099415G=, NT_167245.1:g.1099415G>A, NT_167245.2:g.1093830G=, NT_167245.2:g.1093830G>A, NT_167246.1:g.1099123A=, NT_167246.1:g.1099123A>G, NT_167246.2:g.1093503A=, NT_167246.2:g.1093503A>G, NT_167247.1:g.1099073G=, NT_167247.1:g.1099073G>A, NT_167247.2:g.1093488G=, NT_167247.2:g.1093488G>A, NT_167248.2:g.1093797A=, NT_167248.2:g.1093797A>G, NT_167249.2:g.1137062A=, NT_167249.2:g.1137062A>G, XM_005249055.1:c.*278A=, XM_005249055.1:c.*278A>G, XM_005249056.1:c.*278A>G, XM_005249056.1:c.*278G>A, XM_005249057.1:c.*493A>G, XM_005249057.1:c.*493G>A, XM_005249058.1:c.*278A=, XM_005249058.1:c.*278A>G, XM_005272810.1:c.*292A=, XM_005272810.1:c.*292A>G, XM_005274964.1:c.*278G=, XM_005274964.1:c.*278G>A, XM_005274965.1:c.*278G=, XM_005274965.1:c.*278G>A, XM_005274966.1:c.*493A>G, XM_005274966.1:c.*493G>A, XM_005274967.1:c.*278G=, XM_005274967.1:c.*278G>A, XM_005275119.1:c.*278A=, XM_005275119.1:c.*278A>G, XM_005275120.1:c.*278A>G, XM_005275120.1:c.*278G>A, XM_005275121.1:c.*493A>G, XM_005275121.1:c.*493G>A, XM_005275122.1:c.*278A>G, XM_005275122.1:c.*278G>A, XM_005275246.1:c.*278G=, XM_005275246.1:c.*278G>A, XM_005275247.1:c.*278G=, XM_005275247.1:c.*278G>A, XM_005275248.1:c.*493A>G, XM_005275248.1:c.*493G>A, XM_005275249.1:c.*278G=, XM_005275249.1:c.*278G>A, XM_005275394.1:c.*292A=, XM_005275394.1:c.*292A>G, XM_005275549.1:c.*292A=, XM_005275549.1:c.*292A>G, XM_005275550.1:c.*292A>G, XM_005275550.1:c.*292G>A, XM_005275551.1:c.*507A>G, XM_005275551.1:c.*507G>A, XM_005275552.1:c.*292A=, XM_005275552.1:c.*292A>G, XM_011547651.1:c.*278G=, XM_011547651.1:c.*278G>A, XM_011547882.1:c.*278A=, XM_011547882.1:c.*278A>G, XM_011548048.1:c.*278G=, XM_011548048.1:c.*278G>A, XM_011548236.1:c.*292A=, XM_011548236.1:c.*292A>G, XM_011548237.1:c.*292A=, XM_011548237.1:c.*292A>G, XM_011548430.1:c.*292A=, XM_011548430.1:c.*292A>G, XM_011548431.1:c.*292A=, XM_011548431.1:c.*292A>G, XR_241896.1:n.1904A>G, XR_241896.1:n.1904G>A, XR_246963.1:n.1838A>G, XR_246963.1:n.1838G>A, XR_247353.1:n.1904A>G, XR_247353.1:n.1904G>A, XR_247370.1:n.1904A=, XR_247370.1:n.1904A>G, XR_247389.1:n.1904A>G, XR_247389.1:n.1904G>A, XR_247402.1:n.1838A>G, XR_247402.1:n.1838G>A, XR_247423.1:n.1896A>G, XR_247423.1:n.1896G>A, rs114317070, rs117803891, rs17185503, rs60341608
A > G
SNP
No VIP available CA VA
rs9561778 NC_000013.10:g.95713715G>T, NC_000013.11:g.95061461G>T, NM_001301829.1:c.3225+1243C>A, NM_005845.4:c.3366+1243C>A, XM_005254025.1:c.3237+1243C>A, XM_005254025.2:c.3237+1243C>A, XM_005254026.1:c.3225+1243C>A, XM_005254027.1:c.3141+1243C>A, XM_006719914.1:c.3276+1243C>A, XM_011521047.1:c.2817+1243C>A, rs17234943
G > A
G > T
SNP
No VIP available CA VA
rs9679162 NC_000002.11:g.31247514G>T, NC_000002.12:g.31024648G>T, NM_001253826.1:c.315-58346C>A, NM_001253827.1:c.70-31641C>A, NM_024572.3:c.130-31641C>A, NR_045602.1:n.903-31641C>A, XM_005264559.1:c.25-31641C>A, XM_011533104.1:c.448-31641C>A, XM_011533105.1:c.70-31641C>A, XM_011533106.1:c.43-31641C>A, rs56573917, rs57478659, rs60984987
G > T
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
Trade Names
  • 5 Fluorouracil
  • Adrucil
  • Arumel
  • Carac
  • Carzonal
  • Effluderm
  • Efudex
  • Efudix
  • Efurix
  • FU
  • Fluoroblastin
  • Fluoroplex
  • Fluracil
  • Fluracilum
  • Fluri
  • Fluril
  • Fluro Uracil
  • Flurouracil
  • Ftoruracil
  • Kecimeton
  • Phthoruracil
  • Phtoruracil
  • Queroplex
  • Timazin
  • URF
  • Ulup
Brand Mixture Names

PharmGKB Accession Id

PA128406956

Type(s):

Drug

Description

A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the thymidylate synthetase conversion of deoxyuridylic acid to thymidylic acid.

Source: Drug Bank

Indication

For the topical treatment of multiple actinic or solar keratoses. In the 5% strength it is also useful in the treatment of superficial basal cell carcinomas when conventional methods are impractical, such as with multiple lesions or difficult treatment sites. Fluorouracil injection is indicated in the palliative management of some types of cancer, including colon, esophageal, gastric, rectum, breast, biliary tract, stomach, head and neck, cervical, pancreas, renal cell, and carcinoid.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

The precise mechanism of action has not been fully determined, but the main mechanism of fluorouracil is thought to be the binding of the deoxyribonucleotide of the drug (FdUMP) and the folate cofactor, N5-10-methylenetetrahydrofolate, to thymidylate synthase (TS) to form a covalently bound ternary complex. This results in the inhibition of the formation of thymidylate from uracil, which leads to the inhibition of DNA and RNA synthesis and cell death. Fluorouracil can also be incorporated into RNA in place of uridine triphosphate (UTP), producing a fraudulent RNA and interfering with RNA processing and protein synthesis.

Source: Drug Bank

Pharmacology

Fluorouracil is an antineoplastic anti-metabolite. Anti-metabolites masquerade as purine or pyrimidine - which become the building blocks of DNA. They prevent these substances from becoming incorporated into DNA during the "S" phase (of the cell cycle), stopping normal development and division. Fluorouracil blocks an enzyme which converts the cytosine nucleotide into the deoxy derivative. In addition, DNA synthesis is further inhibited because Fluorouracil blocks the incorporation of the thymidine nucleotide into the DNA strand.

Source: Drug Bank

Food Interaction

Vitamin B1 needs increased with long term use.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Hepatic

Source: Drug Bank

Protein Binding

8-12%

Source: Drug Bank

Absorption

28-100%

Source: Drug Bank

Half-Life

10-20 minutes

Source: Drug Bank

Toxicity

LD 50=230mg/kg (orally in mice)

Source: Drug Bank

Route of Elimination

Seven percent to 20% of the parent drug is excreted unchanged in the urine in 6 hours; of this over 90% is excreted in the first hour.
The remaining percentage of the administered dose is metabolized, primarily in the liver.

Source: Drug Bank

Chemical Properties

Chemical Formula

C4H3FN2O2

Source: Drug Bank

Isomeric SMILES

c1c(c(=O)[nH]c(=O)[nH]1)F

Source: OpenEye

Canonical SMILES

FC1=CNC(=O)NC1=O

Source: Drug Bank

Average Molecular Weight

130.0772

Source: Drug Bank

Monoisotopic Molecular Weight

130.017855555

Source: Drug Bank

SMILES

FC1=CNC(=O)NC1=O

Source: Drug Bank

InChI String

InChI=1S/C4H3FN2O2/c5-2-1-6-4(9)7-3(2)8/h1H,(H2,6,7,8,9)

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Fluoropyrimidine Pathway, Pharmacodynamics
    Model non-tissue-specific cancer cell displaying genes which may be involved in the pharmacodynamics of the fluoropyrimidines, 5-fluorouracil (5-FU), capecitabine and tegafur.
  1. Fluoropyrimidine Pathway, Pharmacokinetics
    Representation of the metabolic pathways for fluoropyrimidines.

External Pathways

Links to non-PharmGKB pathways.

PharmGKB contains no links to external pathways for this drug. To report a pathway, click here.

Genes that are associated with this drug in PharmGKB's database based on (1) variant annotations, (2) literature review, (3) pathways or (4) information automatically retrieved from DrugBank, depending on the "evidence" and "source" listed below.

Curated Information ?

EvidenceGene
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA12
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA13
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCA9
ABCB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB10
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCB9
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
ABCC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC10
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCC11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC12
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC13
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
ABCC3
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC4
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCC5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCC9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCE1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCF3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ABCG1
No Dosing Guideline available No Drug Label available CA VA No VIP available PW
ABCG2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ABCG8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ACE
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
AGXT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AKT2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
AP3M2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APOE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
APPBP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BAX
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCL2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BCR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BPTF
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRAF
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
BRCA2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
C10orf11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CBR3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CCND1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CCNO
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD33
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CD52
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CDA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKN1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CDKN2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CEP290
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CES1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CES2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CFTR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CHN2
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
CLCN6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CMPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
COLEC10
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CSPG4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CSPP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CTDSPL
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CXCL8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CXCR4
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP19A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP1A2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
CYP1B1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2A6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2B6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C19
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C8
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2C9
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP2D6
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
CYP3A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
CYP3A5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DAPK1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DCTD
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DHFR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
DLG5
DPYD
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
DPYS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DTYMK
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
DUT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
E2F1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EGF
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
EGFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EIF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
EPHA5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERBB2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ERCC1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
ERCC2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ERCC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ESR2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
EXO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
F5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FAM73A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FASLG
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR2A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FCGR3A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FDXR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FGFR2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
FGFR4
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
FLT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
FLT4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FPGS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FXYD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
FZD3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
G6PD
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GALNT14
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GCKR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GGH
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GNAS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
GSTM1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
GSTP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
GSTT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HIF1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
HLA-B
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
HLA-G
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IGF1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IGF2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IGF2BP2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
IGFBP3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL13
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL17F
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IL6
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
IMPDH2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
IQGAP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KCNQ1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KDR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DL5A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR2DS5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIR3DS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
KIT
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
KLC1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KLC3
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
KRAS
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LDHA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LDLR
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
LGR5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
LILRA3
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
LYRM5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MAP2K4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MBD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MBTD1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MCPH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MECP2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MEGF11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MET
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
MIR27A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MLH1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MMP9
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MSH6
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MSLN
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
MTHFD1
MTHFR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTOR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MTR
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MUC4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
MYC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAA15
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NAT2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NFKB1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
NLGN1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NME1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NME2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NMT1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NOS3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NPEPPS
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NQO1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NQO2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
NT5C
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
NT5C1A
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OGG1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
OR10AE3P
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
OTC
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PALB2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PARD3B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDE4B
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDGFA
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PDGFRA
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PDGFRB
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PIK3CA
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PON1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
PPAT
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRAM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PROC
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PROM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PRSS1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
PSCA
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
PSMB3P
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
PTEN
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
RALBP1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RB1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
REV3L
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
RGS5
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RNF141
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RRM1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RRM2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
RUNX3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
S100A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SART1
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
SCN1A
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SELE
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SERPINA3
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SHMT1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC15A1
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SLC19A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A11
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC22A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
SLC22A7
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC28A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available PW
SLC29A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A2
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A3
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC29A4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC2A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC31A1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SLC35A2
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
SLCO1B1
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SMAD4
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
SMUG1
No Dosing Guideline available No Drug Label available No Clinical Annotation available