Chemical: Drug
cisplatin
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last updated 10/25/2013
1. Annotation of FDA Label for cisplatin and TPMT
Informative PGx
Summary
The FDA-approved drug label for cisplatin was changed (in 2015) to reflect the level of uncertainty about the relationship between TPMT and cisplatin-induced ototoxicity. The Pharmacogenomics section was removed, and text was modified in the Warnings, Precautions and Adverse Reactions sections.
Annotation
Excerpt from the cisplatin drug label:
Genetic factors (e.g. variants in the thiopurine S-methyltransferase (TPMT) gene) may contribute to cisplatin-induced ototoxicity; although this association has not been consistent across populations and study designs.
For the complete drug label text with sections containing pharmacogenetic information highlighted, see the cisplatin drug label.
*Disclaimer: The contents of this page have not been endorsed by the FDA and are the sole responsibility of PharmGKB.
Genes and/or phenotypes found in this label
-
Anemia
- Adverse reactions section
- source: PHONT
-
Carcinoma, Non-Small-Cell Lung
- Indications & usage section, Precautions section
- source: PHONT
-
Carcinoma, Small Cell
- Indications & usage section, Precautions section
- source: PHONT
-
Neoplasms
- Indications & usage section, Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Neutropenia
- Adverse reactions section, Precautions section
- source: PHONT
-
Ototoxicity
- Boxed warning section, Warnings section, Adverse reactions section, Clinical pharmacology section, Precautions section
- source: U.S. Food and Drug Administration
-
Ovarian Neoplasms
- Precautions section
- source: PHONT
-
Peripheral Nervous System Diseases
- Warnings section, Adverse reactions section, Precautions section
- source: PHONT
-
Thrombocytopenia
- Adverse reactions section, Precautions section
- source: PHONT
-
TPMT
- toxicity, Adverse reactions section
- source: PharmGKB
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 rs2228001 (XPC), cisplatin, Neoplasms, Osteosarcoma, Testicular Neoplasms and Urinary Bladder Neoplasms (level 1B Toxicity/ADR)
- Type
- Toxicity/ADR
- Variant
- rs2228001
- Genes
- XPC
- Phenotypes
- Neoplasms, Osteosarcoma, Testicular Neoplasms, Urinary Bladder Neoplasms
- OMB Race
- Mixed Population
- Race Notes
- Spanish, assumed white; Asian
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 cisplatin
| Gene ? |
Variant?
(147) |
Alternate Names ? | Chemicals ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|---|
VA
|
CYP3A4 | *1 | N/A | N/A | N/A | ||
|
VA
|
CYP3A4 | *22 | N/A | N/A | N/A | ||
|
VA
|
CYP3A5 | *1A | N/A | N/A | N/A | ||
|
VA
|
CYP3A5 | *3A | N/A | N/A | N/A | ||
|
CA
VA
|
GSTM1 | non-null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTM1 | null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTT1 | non-null | N/A | N/A | N/A | ||
|
CA
VA
|
GSTT1 | null | N/A | N/A | N/A | ||
|
CA
VA
|
TPMT | *1 | N/A | N/A | N/A | ||
|
CA
VA
|
TPMT | *3A | N/A | N/A | N/A | ||
|
VA
|
UGT1A1 | *1 | N/A | N/A | N/A | ||
|
VA
|
UGT1A1 | *28 | N/A | N/A | N/A | ||
| 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 | ||||
| rs10276036 | NC_000007.13:g.87180198C>T, NC_000007.14:g.87550882C>T, NG_011513.1:g.167367G>A, NM_000927.4:c.1000-44G>A, rs10488634, rs111193439, rs17276942, rs57688958, rs58206924 |
C > A
C > T
|
SNP | ||||
| 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
|
|||
| rs1042858 | NC_000011.10:g.4138236G>A, NC_000011.9:g.4159466G>A, NG_027992.2:g.48543G>A, NM_001033.3:c.2232G>A, NM_001033.4:c.2232G>A, NM_001318064.1:c.1941G>A, NM_001318065.1:c.1218G>A, NP_001024.1:p.Ala744=, NP_001304993.1:p.Ala647=, NP_001304994.1:p.Ala406=, XM_005253058.1:c.1989G>A, XM_005253059.1:c.1941G>A, XM_011520277.1:c.1941G>A, XM_011520278.1:c.1566G>A, XM_011520279.1:c.1218G>A, XP_005253115.1:p.Ala663=, XP_005253116.1:p.Ala647=, XP_011518579.1:p.Ala647=, XP_011518580.1:p.Ala522=, XP_011518581.1:p.Ala406=, rs17850107, rs2229195, rs2584873, rs3168060, rs57259172 |
G > A
|
SNP |
A744A
|
|||
| rs1042927 | NC_000011.10:g.4138699C>A, NC_000011.9:g.4159929C>A, NG_027992.2:g.49006C>A, NM_001033.3:c.*316C>A, NM_001033.4:c.*316C>A, NM_001318064.1:c.*316C>A, NM_001318065.1:c.*316C>A, XM_005253058.1:c.*316C>A, XM_005253059.1:c.*316C>A, XM_011520277.1:c.*316C>A, XM_011520278.1:c.*316C>A, XM_011520279.1:c.*316C>A, rs16930058, rs1735067, rs3168058, rs58834141 |
C > A
|
SNP | ||||
| 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 | ||||
| rs1044457 | NC_000001.10:g.47842777C>T, NC_000001.11:g.47377105C>T, NM_001136140.1:c.*360C>T, NM_016308.2:c.*360C>T, NR_046394.1:n.1119C>T, rs17378832, rs3184215, rs3767626 |
C > -
C > T
|
SNP | ||||
| 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
|
|||
| rs1051640 | NC_000017.10:g.48768486A>G, NC_000017.11:g.50691125A>G, NM_003786.3:c.4509A>G, NP_003777.2:p.Glu1503=, XM_005257763.1:c.4317A>G, XM_005257763.2:c.4317A>G, XM_011525422.1:c.4422A>G, XM_011525423.1:c.4614A>G, XM_011525424.1:c.3834A>G, XM_011525425.1:c.3783A>G, XP_005257820.1:p.Glu1439=, XP_011523724.1:p.Glu1474=, XP_011523725.1:p.Glu1538=, XP_011523726.1:p.Glu1278=, XP_011523727.1:p.Glu1261=, XR_934586.1:n.4970A>G, rs17414117, rs17643255, rs3192040, rs57272614, rs60786737 |
A > G
|
SNP |
E1503E
|
|||
| rs1051740 | NC_000001.10:g.226019633T>C, NC_000001.11:g.225831932T>C, NG_009776.1:g.26837T>C, NM_000120.3:c.337T>C, NM_001136018.3:c.337T>C, NM_001291163.1:c.337T>C, NP_000111.1:p.Tyr113His, NP_001129490.1:p.Tyr113His, NP_001278092.1:p.Tyr113His, XM_005273085.1:c.337T>C, XP_005273142.1:p.Tyr113His, rs16845366, rs17417482, rs1800444, rs2259405, rs3192120, rs52794507, rs59266540 |
T > C
|
SNP |
Y113H
|
|||
| rs1052536 | NC_000017.10:g.33331575C>T, NC_000017.11:g.35004556C>T, NG_029221.1:g.29059C>T, NM_013975.3:c.*50C>T, XM_005257970.1:c.*50C>T, XM_005257970.2:c.*50C>T, XM_005257971.1:c.*50C>T, XM_011524797.1:c.2823+1767C>T, XM_011524798.1:c.2796+1767C>T, XM_011524799.1:c.2796+1767C>T, XM_011524800.1:c.2823+1767C>T, rs17667663, rs3192959, rs56593019, rs59815732, rs60821611 |
C > T
|
SNP | ||||
| 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
|
|||
| rs1065634 | NC_000001.10:g.115259768T>C, NC_000001.11:g.114717147T>C, NG_007572.1:g.4748A>G, NM_001007553.2:c.*1022A>G, NM_001130523.2:c.*1022A>G, NM_001242891.1:c.*1022A>G, NM_001242892.1:c.*1022A>G, NM_001242893.1:c.*1022A>G, NM_002524.4:c.-507A>G, NM_007158.5:c.*1022A>G, XM_005271178.1:c.*1022A>G, rs3167734, rs57399409 |
T > C
|
SNP | ||||
| rs10950831 |
G > T
|
SNP | |||||
| rs10964552 |
C > A
|
SNP | |||||
| rs10981694 | NC_000009.11:g.115986409T>G, NC_000009.12:g.113224129T>G, NM_001859.3:c.-36+2451T>G, rs60407897 |
T > G
|
SNP | ||||
| rs11030918 | NC_000011.10:g.4094257T>C, NC_000011.9:g.4115487T>C, NG_016277.1:g.243555T>C, NG_027992.2:g.4564T>C, NM_001033.4:c.-756T>C, NM_001318064.1:c.-869T>C, XM_005253058.1:c.-756T>C, XM_005253059.1:c.-869T>C, XM_011520277.1:c.-869T>C, rs17210557, rs17554091 |
T > C
|
SNP | ||||
| rs11211524 | NC_000001.10:g.47833213A>C, NC_000001.11:g.47367541A>C, NM_001136140.1:c.172-5414A>C, NM_016308.2:c.172-928A>C, NR_046394.1:n.321-928A>C |
A > C
|
SNP | ||||
| rs11226 | NC_000012.11:g.1021813G>A, NC_000012.12:g.912647G>A, NG_007984.2:g.164589G>A, NG_017078.2:g.82395C>T, NM_001297419.1:c.*744C>T, NM_001297421.1:c.*744C>T, NM_134424.3:c.*744C>T, NR_123713.1:n.2422C>T, XM_005253720.1:c.*744C>T, XM_005253720.3:c.*744C>T, XM_005253721.1:c.*744C>T, XM_005253721.2:c.*744C>T, XM_005253722.1:c.*744C>T, XM_005253723.1:c.*744C>T, XM_011520990.1:c.*744C>T, XM_011520991.1:c.*744C>T, XM_011520992.1:c.*744C>T, XM_011520995.1:c.*744C>T, XR_242986.1:n.2266C>T, XR_931521.1:n.2088C>T, XR_931522.1:n.2163C>T, rs11571479, rs3192069, rs57985635 |
G > -
G > A
|
SNP | ||||
| 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
|
|||
| rs1130214 | NC_000014.8:g.105259734C>A, NC_000014.9:g.104793397C>A, NG_012188.1:g.7348G>T, NM_001014431.1:c.-79-675G>T, NM_001014432.1:c.-163-187G>T, NM_005163.2:c.-350G>T, XM_005267401.1:c.-79-675G>T, XM_011536543.1:c.-257-93G>T, XM_011536544.1:c.-350G>T, rs36214920, rs56526192, rs57753899 |
C > A
|
SNP | ||||
| rs1131341 | NC_000016.10:g.69714966G>A, NC_000016.9:g.69748869G>A, NG_011504.1:g.16665C>T, NM_000903.2:c.415C>T, NM_001025433.1:c.415C>T, NM_001025434.1:c.304-1837C>T, NM_001286137.1:c.303+3157C>T, NP_000894.1:p.Arg139Trp, NP_001020604.1:p.Arg139Trp, XM_005255830.1:c.303+3157C>T, rs11555214, rs117044374, rs17413734, rs3191186, rs386597012, rs4986998, rs52820907, rs57338209 |
G > A
|
SNP |
R139W
|
|||
| 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
|
|||
| rs1142345 | NC_000006.11:g.18130918T>C, NC_000006.12:g.18130687T>C, NG_012137.2:g.29457A>G, NM_000367.3:c.719A>G, NP_000358.1:p.Tyr240Cys, XM_011514839.1:c.674A>G, XM_011514840.1:c.650A>G, XP_011513141.1:p.Tyr225Cys, XP_011513142.1:p.Tyr217Cys, rs16880254, rs1801205, rs29001646, rs52798150, rs61510596 |
T > C
|
SNP |
Y240C
|
|||
| 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
|
|||
| 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
|
|||
| rs11646213 |
A > T
|
SNP | |||||
| rs11710163 | NC_000003.11:g.12696288A>G, NC_000003.12:g.12654789A>G, NG_007467.1:g.14391T>C, NM_002880.3:c.-27+9024T>C, XM_005265355.1:c.-27+8580T>C, XM_005265356.1:c.-120+9024T>C, XM_005265357.1:c.-27+9024T>C, XM_005265358.1:c.-157+9024T>C, XM_005265358.3:c.-157+9024T>C, XM_005265359.1:c.-157+9024T>C, XM_005265359.3:c.-157+9024T>C, XM_005265360.1:c.-27+9024T>C, XM_011533974.1:c.-120+9024T>C, XM_011533975.1:c.-250+9024T>C, rs58836253 |
A > G
|
SNP | ||||
| rs12090346 | NC_000001.10:g.47841557C>T, NC_000001.11:g.47375885C>T, NM_001136140.1:c.498+592C>T, NM_016308.2:c.645+592C>T, NR_046394.1:n.717+592C>T |
C > T
|
SNP | ||||
| rs12118636 | NC_000001.10:g.53076159G>A, NC_000001.11:g.52610487G>A, rs34623603 |
G > A
|
SNP | ||||
| rs12139042 | NC_000001.10:g.11167146G>A, NC_000001.11:g.11107089G>A, NG_033239.1:g.160463C>T, NM_004958.3:c.*396C>T, XM_005263438.1:c.*396C>T, XM_005263439.1:c.*396C>T, XM_005263440.1:c.5038C>T, XM_005263441.1:c.4031-300C>T, XP_005263497.1:p.Gln1680Ter, rs17229270, rs17848573 |
G > A
|
SNP | ||||
| rs12201199 | NC_000006.11:g.18139802A>T, NC_000006.12:g.18139571A>T, NG_012137.2:g.20573T>A, NM_000367.3:c.419+94T>A, XM_011514839.1:c.419+94T>A, XM_011514840.1:c.350+94T>A, rs58109747 |
A > T
|
SNP | ||||
| 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 | ||||
| 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
|
|||
| rs12806698 | NC_000011.10:g.4094744C>A, NC_000011.9:g.4115974C>A, NG_016277.1:g.244042C>A, NG_027992.2:g.5051C>A, NM_001033.3:c.-269C>A, NM_001033.4:c.-269C>A, NM_001318064.1:c.-382C>A, XM_005253058.1:c.-269C>A, XM_005253059.1:c.-382C>A, XM_011520277.1:c.-382C>A, rs17554111 |
C > A
|
SNP | ||||
| 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 | ||||
| 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
|
|||
| rs151264360 | NC_000018.10:g.673444_673449delTTAAAG, NC_000018.9:g.673444_673449delTTAAAG, NG_028255.1:g.20841_20846delTTAAAG, NM_001071.2:c.*447_*452delTTAAAG, NM_001126123.3:c.*145-373_*145-368del, NM_001126123.3:c.*145-373_*145-368delCTTTAA, NM_001318759.1:c.*145-373_*145-368del, NM_001318759.1:c.*145-373_*145-368delCTTTAA, NM_001318760.1:c.*446+410_*446+415delCTTTAA, NM_001318760.1:c.*856_*861del, NM_017512.5:c.*856_*861delCTTTAA, NM_202758.3:c.*856_*861delCTTTAA, XM_005258111.1:c.*856_*861delCTTTAA, XM_005258112.1:c.*856_*861delCTTTAA, XM_005258113.1:c.*856_*861delCTTTAA, XM_005258114.1:c.*856_*861delCTTTAA, XM_005258115.1:c.*856_*861delCTTTAA, XM_005258116.1:c.*856_*861delCTTTAA, XM_005258117.1:c.*856_*861delCTTTAA, XM_005258118.1:c.*856_*861delCTTTAA, XM_005258118.2:c.*856_*861del, XM_005258120.1:c.*856_*861delCTTTAA, XM_005258137.1:c.*447_*452delTTAAAG, XM_005258138.1:c.*447_*452delTTAAAG, XM_011525677.1:c.*856_*861del, XM_011525678.1:c.*856_*861del, XM_011525679.1:c.*856_*861del, XM_011525680.1:c.*856_*861del, XM_011525681.1:c.*856_*861del, XM_011525682.1:c.*856_*861del, XM_011525683.1:c.*856_*861del, XM_011525684.1:c.*856_*861del, XM_011525685.1:c.*856_*861del, XM_011525686.1:c.*856_*861del, XM_011525687.1:c.*856_*861del, XM_011525688.1:c.*856_*861del, XM_011525689.1:c.*856_*861del, XM_011525690.1:c.*856_*861del, XM_011525691.1:c.*856_*861del, XM_011525692.1:c.*856_*861del, XM_011525693.1:c.*856_*861del, XM_011525694.1:c.*856_*861del, XM_011525695.1:c.*856_*861del, XM_011525696.1:c.*856_*861del, XM_011525697.1:c.*856_*861del, XM_011525698.1:c.*856_*861del, XM_011525699.1:c.*856_*861del, XR_243810.1:n.1672-373_1672-368delCTTTAA, XR_243810.3:n.1513-373_1513-368del, XR_243811.1:n.1538-373_1538-368delCTTTAA, XR_243811.2:n.1538-373_1538-368del, XR_243812.1:n.2112_2117delCTTTAA, XR_430041.2:n.1633-373_1633-368del, XR_935066.1:n.2109_2114del, XR_935067.1:n.1967_1972del |
TTAAAG > -
|
indel | ||||
| rs1617640 | NC_000007.13:g.100317298C>A, NC_000007.14:g.100719675C>A, NG_021471.1:g.3876C>A, NM_000799.2:c.-1306C>A, XM_005250190.1:c.-1306C>A, rs10304599, rs10342152, rs57979509 |
C > A
|
SNP | ||||
| rs16886403 | NC_000005.10:g.56843419T>C, NC_000005.9:g.56139246T>C, NG_031884.1:g.33347T>C, NM_005921.1:c.483-13181T>C, XM_005248519.1:c.72-13181T>C, XM_005248519.3:c.105-13181T>C, XM_005248520.1:c.-7-13181T>C, XM_011543406.1:c.228-13181T>C, XM_011543407.1:c.483-13181T>C, XM_011543408.1:c.483-13181T>C, rs57623389, rs58749465 |
T > C
|
SNP | ||||
| 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
|
|||
| rs16950650 | NC_000013.10:g.95775432C>T, NC_000013.11:g.95123178C>T, NM_001105515.2:c.2456-7177G>A, NM_001301829.1:c.2315-7177G>A, NM_001301830.1:c.2231-7177G>A, NM_005845.4:c.2456-7177G>A, XM_005254025.1:c.2327-7177G>A, XM_005254025.2:c.2327-7177G>A, XM_005254026.1:c.2315-7177G>A, XM_005254027.1:c.2231-7177G>A, XM_005254028.1:c.2231-7177G>A, XM_006719914.1:c.2366-7177G>A, XM_011521047.1:c.1907-7177G>A, rs56643033, rs58582224 |
C > T
|
SNP | ||||
| rs17216177 | NC_000010.10:g.101603522T>C, NC_000010.11:g.99843765T>C, NG_011798.1:g.66060T>C, NM_000392.4:c.3742-34T>C, XM_005269536.1:c.3463-34T>C, XM_006717630.2:c.3046-34T>C, XR_945604.1:n.3931-34T>C, XR_945605.1:n.3806-34T>C, rs45616434 |
T > C
|
SNP | ||||
| rs17309872 | NC_000020.10:g.33515788A>T, NC_000020.11:g.34927985A>T, NG_008848.1:g.32814T>A, NG_011520.1:g.58044A>T, NM_000178.2:c.*843T>A, NM_001076552.2:c.*771A>T, NM_001242393.1:c.*771A>T, NM_018677.3:c.*771A>T, XM_005260405.1:c.*843T>A, XM_005260406.1:c.*843T>A, XM_005260406.3:c.*843T>A, XM_005260454.1:c.*771A>T, XM_005260455.1:c.*771A>T, XM_005260456.1:c.*771A>T, XM_005260457.1:c.*771A>T, XM_006723826.1:c.*771A>T, XM_011528796.1:c.*843T>A, XM_011528905.1:c.*771A>T, XM_011528906.1:c.*771A>T, XM_011528907.1:c.*771A>T, XM_011528908.1:c.*771A>T, XM_011528909.1:c.*771A>T, XM_011528910.1:c.*771A>T, XM_011528911.1:c.*771A>T, XM_011528912.1:c.*771A>T |
A > G
A > T
|
SNP | ||||
| 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 | ||||
| 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 | ||||
| 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 | ||||
| rs17574269 | NC_000006.11:g.117816128A>G, NC_000006.12:g.117494965A>G, NM_173674.2:c.113-8802A>G, XM_005266941.1:c.254-8802A>G, XM_005266942.1:c.254-8802A>G, XM_006715463.1:c.254-8802A>G, XM_011535770.1:c.119-8802A>G, XM_011535771.1:c.-44-8802A>G, XM_011535772.1:c.-44-8802A>G, XM_011535773.1:c.254-8802A>G, XM_011535774.1:c.254-8802A>G, rs58365592 |
A > G
|
SNP | ||||
| rs17655 | NC_000013.10:g.103528002G>C, NC_000013.11:g.102875652G>C, NG_007146.1:g.34829G>C, NM_000123.3:c.3310G>C, NM_001204425.1:c.4672G>C, NP_000114.2:p.Asp1104His, NP_001191354.1:p.Asp1558His, rs16960665, rs3188002, rs3825521, rs52825398 |
G > C
|
SNP |
D1104H
|
|||
| rs17661089 | NC_000005.10:g.56810169A>G, NC_000005.9:g.56105996A>G, NG_031884.1:g.97A>G, rs57476699 |
A > G
|
SNP | ||||
| rs1799735 | unknown | ||||||
| rs1799782 | NC_000019.10:g.43553422G>A, NC_000019.9:g.44057574G>A, NG_033799.1:g.27157C>T, NM_006297.2:c.580C>T, NP_006288.2:p.Arg194Trp, rs11553655, rs2229674, rs3213359, rs3826914, rs386545546 |
G > A
|
SNP |
R194W
|
|||
| 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
|
|||
| rs1800440 | NC_000002.11:g.38298139T>C, NC_000002.12:g.38070996T>C, NG_008386.2:g.10106A>G, NM_000104.3:c.1358A>G, NP_000095.2:p.Asn453Ser, rs17405302, rs386545580, rs4134586, rs4986886, rs56879535 |
T > C
|
SNP |
N453S
|
|||
| rs1800460 | NC_000006.11:g.18139228C>T, NC_000006.12:g.18138997C>T, NG_012137.2:g.21147G>A, NM_000367.3:c.460G>A, NP_000358.1:p.Ala154Thr, XM_011514839.1:c.460G>A, XM_011514840.1:c.391G>A, XP_011513141.1:p.Ala154Thr, XP_011513142.1:p.Ala131Thr, rs11568060, rs16880273, rs386545583, rs57650974 |
C > T
|
SNP |
A154T
|
|||
| 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
|
|||
| 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
|
|||
| 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
|
|||
| rs1801280 | NC_000008.10:g.18257854T>C, NC_000008.11:g.18400344T>C, NG_012246.1:g.14100T>C, NM_000015.2:c.341T>C, NP_000006.2:p.Ile114Thr, XM_011544358.1:c.341T>C, XP_011542660.1:p.Ile114Thr, rs4134724, rs56935242 |
T > C
|
SNP |
I114T
|
|||
| rs1805087 | NC_000001.10:g.237048500A>G, NC_000001.11:g.236885200A>G, NG_008959.1:g.94920A>G, NM_000254.2:c.2756A>G, NM_001291939.1:c.2603A>G, NM_001291940.1:c.1535A>G, NP_000245.2:p.Asp919Gly, NP_001278868.1:p.Asp868Gly, NP_001278869.1:p.Asp512Gly, XM_005273140.1:c.2924A>G, XM_005273141.1:c.2753A>G, XM_005273141.3:c.2753A>G, XM_005273142.1:c.2666A>G, XM_005273143.1:c.2603A>G, XM_005273144.1:c.2318A>G, XM_005273145.1:c.1118A>G, XM_006711769.2:c.2756A>G, XM_006711770.1:c.1820A>G, XM_011544193.1:c.2567A>G, XM_011544194.1:c.2924A>G, XP_005273197.1:p.Asp975Gly, XP_005273198.1:p.Asp918Gly, XP_005273199.1:p.Asp889Gly, XP_005273200.1:p.Asp868Gly, XP_005273201.1:p.Asp773Gly, XP_005273202.1:p.Asp373Gly, XP_006711832.1:p.Asp919Gly, XP_006711833.1:p.Asp607Gly, XP_011542495.1:p.Asp856Gly, XP_011542496.1:p.Asp975Gly, rs17658739, rs56618494, rs61036243 |
A > G
|
SNP |
D919G
|
|||
| rs183484 | NC_000011.10:g.4119902C>A, NC_000011.9:g.4141132C>A, NG_027992.2:g.30209C>A, NM_001033.3:c.850C>A, NM_001033.4:c.850C>A, NM_001318064.1:c.559C>A, NM_001318065.1:c.-207C>A, NP_001024.1:p.Arg284=, NP_001304993.1:p.Arg187=, XM_005253058.1:c.607C>A, XM_005253059.1:c.559C>A, XM_011520277.1:c.559C>A, XM_011520278.1:c.184C>A, XM_011520279.1:c.-207C>A, XP_005253115.1:p.Arg203=, XP_005253116.1:p.Arg187=, XP_011518579.1:p.Arg187=, XP_011518580.1:p.Arg62=, rs17210748, rs1735058, rs17850105, rs2228122 |
C > A
|
SNP |
R284R
|
|||
| 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
|
|||
| rs1872328 | NC_000002.11:g.54395259G>A, NC_000002.12:g.54168122G>A, NM_138448.3:c.185+29374G>A |
G > A
|
SNP | ||||
| 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 | ||||
| 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 | ||||
| rs2018683 | NC_000007.13:g.29014195G>T, NC_000007.14:g.28974579G>T, rs56487635, rs59311291 |
G > T
|
SNP | ||||
| rs2031920 | NC_000010.10:g.135339845C>T, NC_000010.11:g.133526341C>T, NG_008383.1:g.3979C>T, NM_000773.3:c.-1055C>T, XM_005252665.1:c.-512C>T, rs3813868 |
C > T
|
SNP | ||||
| 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
A > T
|
SNP |
S893A
|
|||
| rs2070676 | NC_000010.10:g.135351137G>C, NC_000010.11:g.133537633G>C, NG_008383.1:g.15271G>C, NM_000773.3:c.1156-118G>C, XM_005252665.1:c.1216-118G>C, rs17012756, rs56527359, rs59960595, rs60668193 |
G > C
|
SNP | ||||
| 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 | ||||
| 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
|
|||
| rs2075252 | NC_000002.11:g.170010985T>C, NC_000002.12:g.169154475T>C, NG_012634.1:g.213138A>G, NM_004525.2:c.12280A>G, NP_004516.2:p.Lys4094Glu, XM_005246551.1:c.9991A>G, XM_011511183.1:c.12151A>G, XM_011511184.1:c.9991A>G, XP_005246608.1:p.Lys3331Glu, XP_011509485.1:p.Lys4051Glu, XP_011509486.1:p.Lys3331Glu, rs17848193, rs386556527, rs52808684, rs59573352 |
T > C
|
SNP |
K4094E
|
|||
| rs2166219 | NC_000002.11:g.19617302T>C, NC_000002.12:g.19417541T>C, XR_939779.1:n.496-18349A>G, rs13008844, rs16986416, rs58751495 |
T > C
|
SNP | ||||
| rs2207396 | NC_000006.11:g.152382382G>A, NC_000006.12:g.152061247G>A, NG_008493.1:g.375752G>A, NM_000125.3:c.1369+123G>A, NM_001122740.1:c.1369+123G>A, NM_001122741.1:c.1369+123G>A, NM_001122742.1:c.1369+123G>A, NM_001291230.1:c.1375+123G>A, NM_001291241.1:c.1366+123G>A, XM_005266856.1:c.1375+123G>A, XM_005266857.1:c.1366+123G>A, XM_006715374.2:c.1369+123G>A, XM_006715375.2:c.850+123G>A, XM_011535543.1:c.1369+123G>A, XM_011535544.1:c.1369+123G>A, XM_011535545.1:c.1369+123G>A, XM_011535546.1:c.1369+123G>A, XM_011535547.1:c.1369+123G>A, XM_011535548.1:c.850+123G>A, XM_011535549.1:c.640+123G>A, XR_943116.1:n.7257C>T, rs17847072, rs57792040 |
G > A
|
SNP | ||||
| rs2228001 | NC_000003.11:g.14187449G>T, NC_000003.12:g.14145949G>T, NG_011763.1:g.37724C>A, NM_001145769.1:c.2704C>A, NM_004628.4:c.2815C>A, NP_001139241.1:p.Gln902Lys, NP_004619.3:p.Gln939Lys, NR_027299.1:n.2795C>A, rs17620623, rs17856505, rs3729583, rs60736379 |
G > T
|
SNP |
Q902K
|
|||
| rs2228171 | NC_000002.11:g.170053505C>T, NC_000002.12:g.169196995C>T, NG_012634.1:g.170618G>A, NM_004525.2:c.8614G>A, NP_004516.2:p.Ala2872Thr, XM_005246551.1:c.6325G>A, XM_005246552.1:c.8614G>A, XM_011511183.1:c.8614G>A, XM_011511184.1:c.6325G>A, XM_011511185.1:c.8614G>A, XP_005246608.1:p.Ala2109Thr, XP_005246609.1:p.Ala2872Thr, XP_011509485.1:p.Ala2872Thr, XP_011509486.1:p.Ala2109Thr, XP_011509487.1:p.Ala2872Thr, rs117432666, rs17848174, rs2302697, rs4668123, rs52816657, rs57579868 |
C > T
|
SNP |
A2872T
|
|||
| 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
|
|||
| rs2273697 | NC_000010.10:g.101563815G>A, NC_000010.11:g.99804058G>A, NG_011798.1:g.26353G>A, NM_000392.4:c.1249G>A, NP_000383.1:p.Val417Ile, XM_005269536.1:c.1249G>A, XM_006717630.2:c.553G>A, XM_006717631.2:c.1249G>A, XM_011539291.1:c.1249G>A, XP_005269593.1:p.Val417Ile, XP_006717693.1:p.Val185Ile, XP_006717694.1:p.Val417Ile, XP_011537593.1:p.Val417Ile, XR_945604.1:n.1438G>A, XR_945605.1:n.1440G>A, rs17216184, rs60620335 |
G > A
|
SNP |
V417I
|
|||
| rs2284449 | NC_000011.10:g.4099619T>C, NC_000011.9:g.4120849T>C, NG_027992.2:g.9926T>C, NM_001033.3:c.20-2374T>C, NM_001033.4:c.20-2374T>C, NM_001318064.1:c.-94-2374T>C, XM_005253058.1:c.20-2374T>C, XM_005253059.1:c.-94-2374T>C, XM_011520277.1:c.-94-2374T>C, rs52806873 |
T > C
|
SNP | ||||
| rs2291767 | NC_000002.11:g.241080132T>C, NC_000002.12:g.240140715T>C, NM_148961.3:c.-214A>G |
T > C
|
SNP | ||||
| rs2299939 | NC_000010.10:g.89657150C>A, NC_000010.11:g.87897393C>A, NG_007466.2:g.38955C>A, NM_000314.4:c.164+3284C>A, NM_000314.6:c.164+3284C>A, NM_001304717.2:c.683+3284C>A, NM_001304718.1:c.-542+3284C>A, XM_006717926.2:c.164+3284C>A, XM_011539981.1:c.164+3284C>A, XM_011539982.1:c.68+16955C>A, XR_945789.1:n.876+3284C>A, XR_945790.1:n.876+3284C>A, XR_945791.1:n.876+3284C>A, rs17561756, rs52816835, rs60036687 |
C > A
C > T
|
SNP | ||||
| 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
|
|||
| rs232043 | NC_000011.10:g.4117895G>A, NC_000011.9:g.4139125G>A, NG_027992.2:g.28202G>A, NM_001033.3:c.651-425G>A, NM_001033.4:c.651-425G>A, NM_001318064.1:c.360-425G>A, NM_001318065.1:c.-406-425G>A, XM_005253058.1:c.408-425G>A, XM_005253059.1:c.360-425G>A, XM_011520277.1:c.360-425G>A, XM_011520278.1:c.-16-425G>A, XM_011520279.1:c.-406-425G>A, rs1662167 |
G > A
|
SNP | ||||
| rs244898 |
T > C
|
SNP | |||||
| rs2494750 | NC_000014.8:g.105262912G>C, NC_000014.9:g.104796575G>C, NG_012188.1:g.4169C>G, NG_042073.1:g.395G>C, NM_001014431.1:c.-1172C>G, NM_001014432.1:c.-1256C>G, rs57563070 |
G > C
|
SNP | ||||
| rs2494752 | NC_000014.8:g.105263608A>G, NC_000014.9:g.104797271A>G, NG_012188.1:g.3473T>C, NG_042073.1:g.1091A>G, NM_001014431.1:c.-1868T>C, NM_001014432.1:c.-1952T>C |
A > G
|
SNP | ||||
| rs2498786 | NC_000014.8:g.105262368C>G, NC_000014.9:g.104796031C>G, NG_012188.1:g.4713G>C, NM_001014431.1:c.-628G>C, NM_001014432.1:c.-712G>C, XM_005267401.1:c.-1992G>C, XM_011536543.1:c.-2170G>C, XM_011536544.1:c.-2984G>C |
C > G
|
SNP | ||||
| rs2498804 | NC_000014.8:g.105233095C>A, NC_000014.9:g.104766758C>A, XR_429419.2:n.-1209C>A, rs386568280, rs56890536 |
C > A
|
SNP | ||||
| 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
|
|||
| rs25489 | NC_000019.10:g.43552260C>T, NC_000019.9:g.44056412C>T, NG_033799.1:g.28319G>A, NM_006297.2:c.839G>A, NP_006288.2:p.Arg280His, rs17435388, rs2229675, rs2307183 |
C > T
|
SNP |
R280H
|
|||
| 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
|
|||
| rs2612091 | NC_000018.10:g.683607C>T, NC_000018.9:g.683607C>T, NM_001126123.3:c.496-227G>A, NM_001318759.1:c.742-227G>A, NM_001318760.1:c.199-227G>A, NM_017512.5:c.742-227G>A, NM_202758.3:c.805-227G>A, XM_005258111.1:c.886-227G>A, XM_005258112.1:c.661-227G>A, XM_005258113.1:c.658-227G>A, XM_005258114.1:c.514-227G>A, XM_005258115.1:c.496-227G>A, XM_005258116.1:c.496-227G>A, XM_005258117.1:c.310-227G>A, XM_005258118.1:c.199-227G>A, XM_005258118.2:c.199-227G>A, XM_005258120.1:c.157-227G>A, XM_011525677.1:c.769-212G>A, XM_011525678.1:c.760-212G>A, XM_011525679.1:c.769-227G>A, XM_011525680.1:c.742-212G>A, XM_011525681.1:c.730-212G>A, XM_011525682.1:c.703-212G>A, XM_011525683.1:c.580-212G>A, XM_011525684.1:c.553-212G>A, XM_011525685.1:c.541-212G>A, XM_011525686.1:c.517-212G>A, XM_011525687.1:c.514-227G>A, XM_011525688.1:c.496-212G>A, XM_011525689.1:c.364-212G>A, XM_011525690.1:c.364-212G>A, XM_011525691.1:c.310-212G>A, XM_011525692.1:c.310-212G>A, XM_011525693.1:c.310-212G>A, XM_011525694.1:c.310-227G>A, XM_011525695.1:c.271-212G>A, XM_011525696.1:c.199-212G>A, XM_011525697.1:c.157-212G>A, XM_011525698.1:c.157-212G>A, XM_011525699.1:c.157-212G>A, XR_243810.1:n.937-227G>A, XR_243810.3:n.778-227G>A, XR_243811.1:n.803-227G>A, XR_243811.2:n.803-227G>A, XR_243812.1:n.938-227G>A, XR_430041.2:n.940-227G>A, XR_935066.1:n.778-212G>A, XR_935067.1:n.778-212G>A, rs61671949 |
C > T
|
SNP | ||||
| rs2699887 | NC_000003.11:g.178866408C>T, NC_000003.12:g.179148620C>T, NG_012113.2:g.5098C>T, NM_006218.2:c.-77+17C>T, NR_125401.1:n.-647G>A, XM_006713658.2:c.-77+401C>T, XM_011512894.1:c.-1173C>T, XR_241620.1:n.-643G>A |
C > T
|
SNP | ||||
| rs2720376 | NC_000004.11:g.185554300C>T, NC_000004.12:g.184633146C>T, NM_004346.3:c.179-750G>A, NM_032991.2:c.179-750G>A, XM_005263266.1:c.179-750G>A, XM_011532301.1:c.179-750G>A, rs17586243, rs58845854 |
C > T
|
SNP | ||||
| rs2762939 | NC_000020.10:g.52781251G>C, NC_000020.11:g.54164712G>C, NG_008334.1:g.14266C>G, NM_000782.4:c.733-149C>G, NM_001128915.1:c.733-149C>G, XM_005260304.1:c.733-149C>G, XM_005260304.3:c.733-149C>G, XM_005260305.1:c.733-149C>G, rs57991016 |
G > C
|
SNP | ||||
| rs2804402 | NC_000010.10:g.101541583A>G, NC_000010.11:g.99781826A>G, NG_011798.1:g.4121A>G, NM_000392.4:c.-1019A>G, XM_005269536.1:c.-1019A>G, XM_006717631.2:c.-1019A>G, XM_011539291.1:c.-1019A>G, XR_945604.1:n.-830A>G, XR_945605.1:n.-828A>G, rs17222526, rs60149027 |
A > G
|
SNP | ||||
| 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 | ||||
| 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 | ||||
| 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 | ||||
| rs3087386 | NC_000002.11:g.100055506A>G, NC_000002.12:g.99439044A>G, NM_001037872.1:c.770T>C, NM_016316.2:c.770T>C, NP_001032961.1:p.Phe257Ser, NP_057400.1:p.Phe257Ser, XM_005263967.1:c.770T>C, XM_005263968.1:c.560T>C, XM_005263969.1:c.-825T>C, XM_011511336.1:c.770T>C, XM_011511337.1:c.770T>C, XM_011511338.1:c.560T>C, XM_011511339.1:c.-825T>C, XP_005264024.1:p.Phe257Ser, XP_005264025.1:p.Phe187Ser, XP_011509638.1:p.Phe257Ser, XP_011509639.1:p.Phe257Ser, XP_011509640.1:p.Phe187Ser, XR_244891.1:n.931T>C, XR_427092.1:n.1151T>C, XR_922941.1:n.780T>C, rs3749086, rs58019413 |
A > G
|
SNP |
F257S
|
|||
| rs3087399 | NC_000002.11:g.100055158T>C, NC_000002.12:g.99438696T>C, NM_001037872.1:c.1118A>G, NM_016316.2:c.1118A>G, NP_001032961.1:p.Asn373Ser, NP_057400.1:p.Asn373Ser, XM_005263967.1:c.1118A>G, XM_005263968.1:c.908A>G, XM_005263969.1:c.-477A>G, XM_011511336.1:c.1118A>G, XM_011511337.1:c.1118A>G, XM_011511338.1:c.908A>G, XM_011511339.1:c.-477A>G, XP_005264024.1:p.Asn373Ser, XP_005264025.1:p.Asn303Ser, XP_011509638.1:p.Asn373Ser, XP_011509639.1:p.Asn373Ser, XP_011509640.1:p.Asn303Ser, XR_244891.1:n.1279A>G, XR_427092.1:n.1499A>G, XR_922941.1:n.1128A>G, rs52791165, rs57440453 |
T > C
|
SNP |
N373S
|
|||
| rs3087403 | NC_000002.11:g.100058870C>T, NC_000002.12:g.99442408C>T, NM_001037872.1:c.412G>A, NM_016316.2:c.412G>A, NP_001032961.1:p.Val138Met, NP_057400.1:p.Val138Met, XM_005263967.1:c.412G>A, XM_005263968.1:c.202G>A, XM_011511336.1:c.412G>A, XM_011511337.1:c.412G>A, XM_011511338.1:c.202G>A, XP_005264024.1:p.Val138Met, XP_005264025.1:p.Val68Met, XP_011509638.1:p.Val138Met, XP_011509639.1:p.Val138Met, XP_011509640.1:p.Val68Met, XR_244891.1:n.573G>A, XR_427092.1:n.793G>A, XR_922941.1:n.422G>A, rs17713429, rs52807598, rs58647355 |
C > T
|
SNP |
V138M
|
|||
| rs316019 | NC_000006.11:g.160670282A>C, NC_000006.12:g.160249250A>C, NM_003058.3:c.808T>G, NP_003049.2:p.Ser270Ala, rs1755917, rs17846267, rs17859289, rs386580336, rs52803175, rs60007366, rs666224 |
A > C
|
SNP |
S270A
|
|||
| rs3204953 | NC_000006.11:g.111628626C>T, NC_000006.12:g.111307423C>T, NM_001286431.1:c.8956G>A, NM_001286432.1:c.8956G>A, NM_002912.4:c.9190G>A, NP_001273360.1:p.Val2986Ile, NP_001273361.1:p.Val2986Ile, NP_002903.3:p.Val3064Ile, XM_005267088.1:c.8956G>A, XM_005267089.1:c.8824G>A, XM_006715543.2:c.9190G>A, XM_006715544.2:c.8956G>A, XM_011536028.1:c.9271G>A, XM_011536029.1:c.9268G>A, XM_011536030.1:c.9193G>A, XM_011536031.1:c.9037G>A, XM_011536032.1:c.9037G>A, XP_005267145.1:p.Val2986Ile, XP_005267146.1:p.Val2942Ile, XP_006715606.1:p.Val3064Ile, XP_006715607.1:p.Val2986Ile, XP_011534330.1:p.Val3091Ile, XP_011534331.1:p.Val3090Ile, XP_011534332.1:p.Val3065Ile, XP_011534333.1:p.Val3013Ile, XP_011534334.1:p.Val3013Ile, XR_942871.1:n.2045+29265C>T, rs17511539, rs386580771, rs52817805 |
C > T
|
SNP |
V2986I
|
|||
| 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
|
|||
| rs3219484 | NC_000001.10:g.45800156C>T, NC_000001.11:g.45334484C>T, NG_008189.1:g.10987G>A, NM_001048171.1:c.64G>A, NM_001048172.1:c.22G>A, NM_001048173.1:c.22G>A, NM_001048174.1:c.22G>A, NM_001128425.1:c.64G>A, NM_001293190.1:c.64G>A, NM_001293191.1:c.22G>A, NM_001293192.1:c.-191G>A, NM_001293195.1:c.22G>A, NM_001293196.1:c.-191G>A, NM_012222.2:c.64G>A, NP_001041636.1:p.Val22Met, NP_001041637.1:p.Val8Met, NP_001041638.1:p.Val8Met, NP_001041639.1:p.Val8Met, NP_001121897.1:p.Val22Met, NP_001280119.1:p.Val22Met, NP_001280120.1:p.Val8Met, NP_001280124.1:p.Val8Met, NP_036354.1:p.Val22Met, XM_005270880.1:c.64G>A, XM_005270881.1:c.22G>A, XM_005270882.1:c.22G>A, XM_005270883.1:c.-135G>A, XM_005270884.1:c.-191G>A, XM_005270885.1:c.-191G>A, XM_005270886.1:c.-52G>A, XM_011541497.1:c.40G>A, XM_011541498.1:c.22G>A, XM_011541499.1:c.22G>A, XM_011541500.1:c.22G>A, XM_011541501.1:c.22G>A, XM_011541502.1:c.22G>A, XM_011541503.1:c.64G>A, XM_011541504.1:c.22G>A, XM_011541505.1:c.-52G>A, XM_011541506.1:c.-52G>A, XM_011541507.1:c.-1167G>A, XM_011541508.1:c.-1194G>A, XP_005270937.1:p.Val22Met, XP_005270938.1:p.Val8Met, XP_005270939.1:p.Val8Met, XP_011539799.1:p.Val14Met, XP_011539800.1:p.Val8Met, XP_011539801.1:p.Val8Met, XP_011539802.1:p.Val8Met, XP_011539803.1:p.Val8Met, XP_011539804.1:p.Val8Met, XP_011539805.1:p.Val22Met, XP_011539806.1:p.Val8Met, XR_946658.1:n.111G>A, rs17784895, rs52809192, rs61197742 |
C > T
|
SNP |
V22M
|
|||
| rs34716810 | NC_000019.10:g.40286682G>A, NC_000019.9:g.40792589G>A, NG_012038.2:g.3677C>T, NM_001243027.2:c.-1735C>T, NM_001243028.2:c.-1642C>T, NM_001626.5:c.-1586C>T, XM_005258648.1:c.-1319C>T, XM_005258650.1:c.-1586C>T, XM_011526617.1:c.-2299C>T, XM_011526618.1:c.-2002C>T, XM_011526620.1:c.-1319C>T, XM_011526621.1:c.-1718C>T, XM_011526622.1:c.-1586C>T, XR_935967.1:n.169+83G>A, rs62107592 |
G > A
|
SNP | ||||
| 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
|
|||
| rs3740556 | NC_000010.10:g.120840195G>A, NC_000010.11:g.119080683G>A, NM_003750.2:c.-7C>T, XM_005270259.1:c.-7C>T, XM_005270260.1:c.-357C>T |
G > A
|
SNP | ||||
| rs3787554 | NC_000020.10:g.52782680G>A, NC_000020.11:g.54166141G>A, NG_008334.1:g.12837C>T, NM_000782.4:c.641-308C>T, NM_001128915.1:c.641-308C>T, XM_005260304.1:c.641-308C>T, XM_005260304.3:c.641-308C>T, XM_005260305.1:c.641-308C>T |
G > A
|
SNP | ||||
| rs3803304 | NC_000014.8:g.105239146C>G, NC_000014.9:g.104772809C>G, NG_012188.1:g.27936G>C, NM_001014431.1:c.1172+69G>C, NM_001014432.1:c.1172+69G>C, NM_005163.2:c.1172+69G>C, XM_005267401.1:c.1172+69G>C, XM_005267402.1:c.1169+69G>C, XM_011536543.1:c.1172+69G>C, XM_011536544.1:c.1172+69G>C |
C > G
|
SNP | ||||
| rs3817657 | NC_000011.10:g.4121362T>C, NC_000011.9:g.4142592T>C, NG_027992.2:g.31669T>C, NM_001033.3:c.877-242T>C, NM_001033.4:c.877-242T>C, NM_001318064.1:c.586-242T>C, NM_001318065.1:c.-138-242T>C, XM_005253058.1:c.634-242T>C, XM_005253059.1:c.586-242T>C, XM_011520277.1:c.586-242T>C, XM_011520278.1:c.211-242T>C, XM_011520279.1:c.-138-242T>C, rs57325561 |
T > C
|
SNP | ||||
| rs3832043 | NC_000002.11:g.234580454delT, NC_000002.12:g.233671808delT, NG_002601.2:g.87065delT, NM_019075.2:c.855+34431del, NM_019075.2:c.855+34431delT, NM_019076.4:c.855+53246del, NM_019076.4:c.855+53246delT, NM_021027.2:c.-127del, NM_021027.2:c.-127delT, XR_241241.1:n.-41delT, rs150487502, rs35426722, rs371526135, rs57111427, rs67695772, rs67695773 |
T > -
|
indel | ||||
| rs3957357 | NC_000006.11:g.52668687A>G, NC_000006.12:g.52803889A>G, NM_001319059.1:c.-281T>C, NM_145740.4:c.-135T>C, XM_005249034.1:c.-135T>C, XM_005249034.2:c.-135T>C, rs58145964 |
A > G
|
SNP | ||||
| rs4124874 | NC_000002.11:g.234665659T>G, NC_000002.12:g.233757013T>G, NG_002601.2:g.172270T>G, NG_033238.1:g.1741T>G, NM_001072.3:c.862-10021T>G, NM_007120.2:c.868-10021T>G, NM_019075.2:c.856-10021T>G, NM_019076.4:c.856-10021T>G, NM_019077.2:c.856-10021T>G, NM_019078.1:c.868-10021T>G, NM_019093.2:c.868-10021T>G, NM_021027.2:c.856-10021T>G, NM_205862.1:c.61-10021T>G, NR_037694.1:n.-1668A>C, NR_037695.1:n.-1668A>C, NR_037696.1:n.-1668A>C, XR_241238.1:n.924-10021T>G, XR_241240.1:n.1023-10021T>G, XR_241241.1:n.942-10021T>G, rs57409706 |
T > G
|
SNP | ||||
| rs4148323 | NC_000002.11:g.234669144G>A, NC_000002.12:g.233760498G>A, NG_002601.2:g.175755G>A, NG_033238.1:g.5226G>A, NM_000463.2:c.211G>A, NM_001072.3:c.862-6536G>A, NM_007120.2:c.868-6536G>A, NM_019075.2:c.856-6536G>A, NM_019076.4:c.856-6536G>A, NM_019077.2:c.856-6536G>A, NM_019078.1:c.868-6536G>A, NM_019093.2:c.868-6536G>A, NM_021027.2:c.856-6536G>A, NM_205862.1:c.61-6536G>A, NP_000454.1:p.Gly71Arg, XR_241238.1:n.924-6536G>A, XR_241239.1:n.233G>A, XR_241240.1:n.1023-6536G>A, XR_241241.1:n.942-6536G>A, rs113525835, rs34360183, rs58105808, rs58585123 |
G > A
|
SNP |
G71R
|
|||
| rs4148416 | NC_000017.10:g.48753423C>T, NC_000017.11:g.50676062C>T, NM_003786.3:c.3039C>T, NP_003777.2:p.Gly1013=, XM_005257763.1:c.2847C>T, XM_005257763.2:c.2847C>T, XM_011525422.1:c.2952C>T, XM_011525423.1:c.3144C>T, XM_011525424.1:c.2364C>T, XM_011525425.1:c.2313C>T, XP_005257820.1:p.Gly949=, XP_011523724.1:p.Gly984=, XP_011523725.1:p.Gly1048=, XP_011523726.1:p.Gly788=, XP_011523727.1:p.Gly771=, XR_934586.1:n.3237C>T |
C > T
|
SNP |
G1013G
|
|||
| rs4148737 | NC_000007.13:g.87171152T>C, NC_000007.14:g.87541836T>C, NG_011513.1:g.176413A>G, NM_000927.4:c.2212-372A>G, rs386591482, rs60838665 |
T > C
|
SNP | ||||
| rs4492666 | NC_000001.10:g.47800845A>C, NC_000001.11:g.47335173A>C, NM_001136140.1:c.171+1057A>C, NM_016308.2:c.171+1057A>C, NR_046394.1:n.320+1057A>C, NR_046395.1:n.320+1057A>C, rs61400292 |
A > C
A > T
|
SNP | ||||
| rs451774 | NC_000006.11:g.28502550A>G, NC_000006.12:g.28534773A>G, NM_001509.2:c.*606A>G, NM_003996.3:c.*851A>G, NT_113891.2:g.24754A>G, NT_113891.3:g.24654A>G, XM_011514527.1:c.*606A>G, XM_011514528.1:c.*606A>G, XM_011514529.1:c.*606A>G, XM_011514530.1:c.*606A>G, XM_011547233.1:c.*606A>G, XM_011547234.1:c.*606A>G, XM_011547235.1:c.*606A>G, XM_011547236.1:c.*606A>G, rs115878751, rs118080793, rs60258350 |
A > G
|
SNP | ||||
| 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], rs34743033 (retired) |
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)2
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)4
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)7
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)8
(CCGCGCCACTTGGCCTGCCTCCGTCCCG)3 > (CCGCGCCACTTGGCCTGCCTCCGTCCCG)9
|
microsatellite | ||||
| rs462779 | NC_000006.11:g.111695887G>A, NC_000006.12:g.111374684G>A, NM_001286431.1:c.3437C>T, NM_001286432.1:c.3437C>T, NM_002912.4:c.3671C>T, NP_001273360.1:p.Thr1146Ile, NP_001273361.1:p.Thr1146Ile, NP_002903.3:p.Thr1224Ile, XM_005267088.1:c.3437C>T, XM_005267089.1:c.3305C>T, XM_005267090.1:c.3671C>T, XM_005267091.1:c.3671C>T, XM_006715543.2:c.3671C>T, XM_006715544.2:c.3437C>T, XM_011536028.1:c.3674C>T, XM_011536029.1:c.3671C>T, XM_011536030.1:c.3674C>T, XM_011536031.1:c.3440C>T, XM_011536032.1:c.3440C>T, XM_011536033.1:c.3674C>T, XM_011536034.1:c.3674C>T, XM_011536035.1:c.3674C>T, XM_011536036.1:c.3674C>T, XP_005267145.1:p.Thr1146Ile, XP_005267146.1:p.Thr1102Ile, XP_005267147.1:p.Thr1224Ile, XP_005267148.1:p.Thr1224Ile, XP_006715606.1:p.Thr1224Ile, XP_006715607.1:p.Thr1146Ile, XP_011534330.1:p.Thr1225Ile, XP_011534331.1:p.Thr1224Ile, XP_011534332.1:p.Thr1225Ile, XP_011534333.1:p.Thr1147Ile, XP_011534334.1:p.Thr1147Ile, XP_011534335.1:p.Thr1225Ile, XP_011534336.1:p.Thr1225Ile, XP_011534337.1:p.Thr1225Ile, XP_011534338.1:p.Thr1225Ile, XR_942545.1:n.4223C>T, XR_942546.1:n.4223C>T, rs17510886, rs386594115, rs52812261, rs56811779 |
G > A
|
SNP |
T1146I
|
|||
| rs4638843 | NC_000002.11:g.47704027G>C, NC_000002.12:g.47476888G>C, NG_007110.2:g.78765G>C, NM_000251.2:c.2210+317G>C, NM_001258281.1:c.2012+317G>C, XM_005264332.1:c.2210+317G>C, XM_005264332.2:c.2210+317G>C, XM_005264333.1:c.2060+317G>C, XM_011532867.1:c.2210+317G>C, XR_939685.1:n.2282+317G>C, rs17224885, rs5023612, rs61203271 |
G > C
|
SNP | ||||
| rs4646316 | NC_000022.10:g.19952132C>T, NC_000022.11:g.19964609C>T, NG_011526.1:g.27870C>T, NM_000754.3:c.615+310C>T, NM_001135161.1:c.615+310C>T, NM_001135162.1:c.615+310C>T, NM_007310.2:c.465+310C>T, XM_005261229.1:c.615+310C>T, XM_011529885.1:c.729+310C>T, XM_011529886.1:c.729+310C>T, XM_011529887.1:c.615+310C>T, XM_011529888.1:c.615+310C>T, XM_011529889.1:c.615+310C>T, XM_011529890.1:c.615+310C>T, XM_011529891.1:c.615+310C>T, rs58510682 |
C > T
|
SNP | ||||
| rs4646437 | NC_000007.13:g.99365083G>A, NC_000007.14:g.99767460G>A, NG_008421.1:g.21726C>T, NM_001202855.2:c.671-205C>T, NM_017460.5:c.671-202C>T, XM_011515841.1:c.671-202C>T, XM_011515842.1:c.671-205C>T, rs386594232, rs57997883 |
G > A
|
SNP | ||||
| rs4655567 | NC_000001.10:g.68101640G>C, NC_000001.11:g.67635957G>C, rs57378090, rs57576059 |
G > C
|
SNP | ||||
| rs465646 | NC_000006.11:g.111620758G>A, NC_000006.12:g.111299555G>A, NM_001286431.1:c.*461C>T, NM_001286432.1:c.*461C>T, NM_002912.4:c.*461C>T, XM_005267088.1:c.*461C>T, XM_005267089.1:c.*461C>T, XM_006715543.2:c.*461C>T, XM_006715544.2:c.*461C>T, XM_011536028.1:c.*461C>T, XM_011536029.1:c.*461C>T, XM_011536030.1:c.*461C>T, XM_011536031.1:c.*461C>T, XM_011536032.1:c.*461C>T, XR_942871.1:n.2045+21397G>A, rs17511609, rs3805825, rs59824672 |
G > A
|
SNP | ||||
| rs4788863 |
T > C
|
SNP |
L41L
|
||||
| rs4834232 | NC_000004.11:g.129024273C>T, NC_000004.12:g.128103118C>T, NM_001278604.1:c.814-4021C>T, NM_018078.3:c.814-4021C>T, NM_032239.3:c.814-4021C>T, NM_178043.2:c.814-4021C>T, XM_005263086.1:c.1417-4021C>T, XM_005263087.1:c.1417-4021C>T, XM_005263088.1:c.1417-4021C>T, XM_005263089.1:c.1273-4021C>T, XM_005263090.1:c.1417-4021C>T, XM_005263091.1:c.1417-4021C>T, XM_005263092.1:c.1417-4021C>T, XM_005263093.1:c.1417-4021C>T, XM_005263094.1:c.1417-4021C>T, XM_005263095.1:c.1417-4021C>T, XM_005263096.1:c.1417-4021C>T, XM_005263097.1:c.1417-4021C>T, XM_005263098.1:c.1417-4021C>T, XM_005263099.1:c.91-4021C>T, XM_005263100.1:c.91-4021C>T, XM_005263101.1:c.1417-4021C>T, XM_011532057.1:c.814-4021C>T, XM_011532058.1:c.814-4021C>T, XM_011532059.1:c.814-4021C>T, XM_011532060.1:c.814-4021C>T, XM_011532061.1:c.1276-4021C>T, XM_011532062.1:c.814-4021C>T, XM_011532063.1:c.814-4021C>T, XM_011532064.1:c.814-4021C>T, XM_011532065.1:c.1276-4021C>T, XM_011532066.1:c.814-4021C>T, XM_011532067.1:c.814-4021C>T, XM_011532068.1:c.673-4021C>T, XM_011532069.1:c.673-4021C>T, XM_011532070.1:c.814-4021C>T, XM_011532071.1:c.814-4021C>T, XM_011532072.1:c.814-4021C>T, XM_011532073.1:c.814-4021C>T, XM_011532074.1:c.814-4021C>T, XM_011532075.1:c.91-4021C>T, XM_011532076.1:c.91-4021C>T, XM_011532077.1:c.91-4021C>T, XM_011532078.1:c.814-4021C>T, XR_938753.1:n.891-4021C>T, XR_938754.1:n.891-4021C>T, XR_938755.1:n.891-4021C>T, XR_938756.1:n.891-4021C>T, XR_938757.1:n.891-4021C>T, XR_938758.1:n.891-4021C>T, XR_938759.1:n.891-4021C>T, XR_938760.1:n.891-4021C>T, XR_938761.1:n.891-4021C>T, XR_938762.1:n.891-4021C>T, rs17394472, rs59780448 |
C > T
|
SNP | ||||
| rs4932551 | NC_000015.10:g.91528728G>C, NC_000015.9:g.92071958G>C, rs17772730, rs56529178, rs57899076, rs58182249 |
G > C
|
SNP | ||||
| 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 | ||||
| rs560018 | NC_000001.10:g.110200360T>C, NC_000001.11:g.109657738T>C, NM_000850.4:c.260-34T>C, NM_147148.2:c.260-34T>C, NR_024538.1:n.492-34T>C, XM_011541297.1:c.260-34T>C, XM_011541298.1:c.-53-34T>C, rs17531990, rs1800657, rs58086519 |
T > C
|
SNP | ||||
| 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
|
|||
| 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 | ||||
| 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
|
|||
| rs60369023 | NC_000001.10:g.20931474G>A, NC_000001.11:g.20604981G>A, NM_001785.2:c.208G>A, NP_001776.1:p.Ala70Thr |
G > A
|
SNP |
A70T
|
|||
| rs62107593 | NC_000019.10:g.40287019C>G, NC_000019.9:g.40792926C>G, NG_012038.2:g.3340G>C, NM_001243027.2:c.-2072G>C, NM_001243028.2:c.-1979G>C, NM_001626.5:c.-1923G>C, XM_005258648.1:c.-1656G>C, XM_005258650.1:c.-1923G>C, XM_011526620.1:c.-1656G>C, XM_011526621.1:c.-2055G>C, XM_011526622.1:c.-1923G>C, XR_935967.1:n.169+420C>G |
C > G
|
SNP | ||||
| rs6413432 | NC_000010.10:g.135348544T>A, NC_000010.11:g.133535040T>A, NG_008383.1:g.12678T>A, NM_000773.3:c.967+1143T>A, XM_005252665.1:c.1027+1143T>A |
T > A
|
SNP | ||||
| rs6458232 | NC_000006.11:g.41629726C>A, NC_000006.12:g.41661988C>A, rs59690886 |
C > A
|
SNP | ||||
| 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 | ||||
| rs6721961 | NC_000002.11:g.178130037T>G, NC_000002.12:g.177265309T>G, NM_001145412.3:c.-1910A>C, NM_001145413.3:c.-1910A>C, NM_001313900.1:c.-1784A>C, NM_001313901.1:c.-1876A>C, NM_001313902.1:c.-733A>C, NM_001313903.1:c.-733A>C, NM_001313904.1:c.-2091A>C, NM_006164.4:c.-733A>C, rs117801448 |
T > C
T > G
|
SNP | ||||
| 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
|
|||
| 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 | ||||
| rs6848982 | NC_000004.11:g.128959213G>A, NC_000004.12:g.128038058G>A, NM_001319305.1:c.*2245G>A, NM_001319306.1:c.*2245G>A, NM_001319307.1:c.*2245G>A |
G > A
|
SNP | ||||
| 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 | ||||
| rs698 | NC_000004.11:g.100260789T>C, NC_000004.12:g.99339632T>C, NG_011718.1:g.18129A>G, NM_000669.4:c.1048A>G, NP_000660.1:p.Ile350Val, NR_133005.1:n.1374A>G, XM_011531588.1:c.946A>G, XM_011531589.1:c.928A>G, XP_011529890.1:p.Ile316Val, XP_011529891.1:p.Ile310Val, rs1042758, rs117472071, rs1693473, rs17399447, rs17855753, rs3182222, rs4134508, rs56906178 |
T > -
T > C
|
SNP |
I350V
|
|||
| 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
|
|||
| rs7131224 | NC_000011.10:g.24225985T>C, NC_000011.9:g.24247531T>C, rs111186995, rs58002303, rs58056067 |
T > C
|
SNP | ||||
| rs715171 | NC_000023.10:g.9341848C>T, NC_000023.11:g.9373808C>T, rs61410664 |
C > T
|
SNP | ||||
| rs7170769 | NC_000015.10:g.91526975C>T, NC_000015.9:g.92070205C>T, rs58543442 |
C > T
|
SNP | ||||
| 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 | ||||
| rs7186128 | NC_000016.10:g.16864058G=, NC_000016.10:g.16864058G>A, NC_000016.9:g.16957915G>A, NT_187607.1:g.2524971A=, NT_187607.1:g.2524971A>G, rs56576370, rs57245322, rs58011988 |
G > A
|
SNP | ||||
| rs720106 | NC_000011.10:g.4118748T>C, NC_000011.9:g.4139978T>C, NG_027992.2:g.29055T>C, NM_001033.3:c.792+287T>C, NM_001033.4:c.792+287T>C, NM_001318064.1:c.501+287T>C, NM_001318065.1:c.-265+287T>C, XM_005253058.1:c.549+287T>C, XM_005253059.1:c.501+287T>C, XM_011520277.1:c.501+287T>C, XM_011520278.1:c.126+287T>C, XM_011520279.1:c.-265+287T>C |
T > C
|
SNP | ||||
| rs725518 | NC_000011.10:g.4107615G>A, NC_000011.9:g.4128845G>A, NG_027992.2:g.17922G>A, NM_001033.3:c.387+80G>A, NM_001033.4:c.387+80G>A, NM_001318064.1:c.96+80G>A, XM_005253058.1:c.202+1476G>A, XM_005253059.1:c.96+80G>A, XM_011520277.1:c.96+80G>A, rs17423023, rs386608733, rs61333041 |
G > A
|
SNP | ||||
| rs726501 | NC_000005.10:g.56832039G>A, NC_000005.9:g.56127866G>A, NG_031884.1:g.21967G>A, NM_005921.1:c.482+15984G>A, XM_005248519.1:c.71+11223G>A, XM_005248519.3:c.104+11223G>A, XM_005248520.1:c.-8+14923G>A, XM_011543406.1:c.227+15704G>A, XM_011543407.1:c.482+15984G>A, XM_011543408.1:c.482+15984G>A, rs57031684 |
G > A
|
SNP | ||||
| rs74090038 | NC_000014.8:g.105262781C>T, NC_000014.9:g.104796444C>T, NG_012188.1:g.4300G>A, NG_042073.1:g.264C>T, NM_001014431.1:c.-1041G>A, NM_001014432.1:c.-1125G>A, XM_005267401.1:c.-2405G>A, XM_011536543.1:c.-2583G>A, XM_011536544.1:c.-3397G>A |
C > T
|
SNP | ||||
| rs7483 | NC_000001.10:g.110279701C>T, NC_000001.11:g.109737079C>T, NM_000849.4:c.670G>A, NP_000840.2:p.Val224Ile, NR_024537.1:n.904G>A, XM_011541296.1:c.889G>A, XP_011539598.1:p.Val297Ile, rs17845187, rs17857997, rs3167664, rs386610559, rs52802282, rs58618587 |
C > -
C > T
|
SNP |
V224I
|
|||
| 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 | ||||
| rs763110 | NC_000001.10:g.172627498C=, NC_000001.10:g.172627498C>T, NC_000001.11:g.172658358C=, NC_000001.11:g.172658358C>T, NG_007269.1:g.4314C=, NG_007269.1:g.4314C>T, NM_000639.2:c.-157-687C>T, NM_000639.2:c.-844C=, NM_001302746.1:c.-844C=, NM_001302746.1:c.-844C>T, rs59042607 |
C > T
|
SNP | ||||
| 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 | ||||
| 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 | ||||
| rs7851395 | NC_000009.11:g.116002464A>G, NC_000009.12:g.113240184A>G, NM_001859.3:c.-35-15930A>G |
A > G
|
SNP | ||||
| rs7937567 |
G > A
|
SNP | |||||
| rs7940013 | NC_000011.10:g.4117074C>T, NC_000011.9:g.4138304C>T, NG_027992.2:g.27381C>T, NM_001033.3:c.651-1246C>T, NM_001033.4:c.651-1246C>T, NM_001318064.1:c.360-1246C>T, NM_001318065.1:c.-407+714C>T, XM_005253058.1:c.408-1246C>T, XM_005253059.1:c.360-1246C>T, XM_011520277.1:c.360-1246C>T, XM_011520278.1:c.-17+714C>T, XM_011520279.1:c.-407+714C>T, rs59381386, rs61670155 |
C > T
|
SNP | ||||
| 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
|
|||
| rs8020368 | NC_000014.8:g.95943548T>C, NC_000014.9:g.95477211T>C, NM_152592.3:c.-1390A>G, XM_005267376.1:c.-14-1376A>G, XM_005267376.3:c.176-1376A>G, XM_005267377.1:c.-14-1376A>G, XM_005267377.2:c.-14-1376A>G, XM_005267378.1:c.-14-1376A>G, XM_005267379.1:c.-14-1376A>G, XM_005267380.1:c.-14-1376A>G, XM_006720063.2:c.-14-1376A>G, XM_011536513.1:c.176-1376A>G, XM_011536514.1:c.176-1376A>G, XM_011536515.1:c.11-1376A>G, XM_011536516.1:c.176-1376A>G, rs56427699, rs58836477, rs59378010 |
T > C
|
SNP | ||||
| rs8175347 |
(TA)6 > (TA)5
(TA)6 > (TA)7
(TA)6 > (TA)8
|
microsatellite | |||||
| rs8187710 | NC_000010.10:g.101611294G>A, NC_000010.11:g.99851537G>A, NG_011798.1:g.73832G>A, NM_000392.4:c.4544G>A, NP_000383.1:p.Cys1515Tyr, XM_005269536.1:c.4265G>A, XM_006717630.2:c.3848G>A, XP_005269593.1:p.Cys1422Tyr, XP_006717693.1:p.Cys1283Tyr, XR_945605.1:n.4608G>A, rs17222568, rs52804507, rs58135906 |
G > A
|
SNP |
C1515Y
|
|||
| 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 | ||||
| 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
|
|||
| rs9332377 | NC_000022.10:g.19955692C>T, NC_000022.11:g.19968169C>T, NG_011526.1:g.31430C>T, NG_023326.1:g.53618G>A, NM_000754.3:c.616-367C>T, NM_001135161.1:c.616-367C>T, NM_001135162.1:c.616-367C>T, NM_007310.2:c.466-367C>T, XM_005261229.1:c.616-367C>T, XM_005261242.1:c.2764-960G>A, XM_006724243.1:c.2782-960G>A, XM_006724246.2:c.2536-960G>A, XM_011529885.1:c.*742C>T, XM_011529886.1:c.730-367C>T, XM_011529887.1:c.*742C>T, XM_011529888.1:c.*742C>T, XM_011529889.1:c.*742C>T, XM_011529890.1:c.*742C>T, XM_011529891.1:c.*742C>T, XM_011530179.1:c.2749-960G>A, XM_011530182.1:c.1348-960G>A, rs60676269 |
C > T
|
SNP | ||||
| rs939338 | NC_000003.11:g.183704068G>A, NC_000003.12:g.183986280G>A, NM_001023587.2:c.592-902C>T, NM_001320032.1:c.-941+1490C>T, NM_005688.3:c.591+1490C>T, NR_135125.1:n.778-825C>T, XM_005247058.1:c.591+1490C>T, XM_005247058.3:c.591+1490C>T, XM_005247059.1:c.591+1490C>T, XM_005247059.3:c.591+1490C>T, XM_005247060.1:c.591+1490C>T, XM_005247061.1:c.591+1490C>T, XM_005247062.1:c.-941+1490C>T, XM_011512314.1:c.591+1490C>T, XM_011512315.1:c.591+1490C>T, XM_011512316.1:c.-941+1490C>T, rs17218204, rs3749439, rs56440939, rs59349069 |
G > A
|
SNP | ||||
| rs9597 | NC_000016.10:g.1324950C>G, NC_000016.9:g.1374951C>G, NM_003345.4:c.*157C>G, NM_194259.2:c.*157C>G, NM_194260.2:c.*157C>G, NM_194261.2:c.*157C>G, XM_005255544.1:c.*157C>G, rs74248366 |
C > G
|
SNP | ||||
| 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 | ||||
| rs9937 | NC_000011.10:g.4138227A>G, NC_000011.9:g.4159457A>G, NG_027992.2:g.48534A>G, NM_001033.3:c.2223A>G, NM_001033.4:c.2223A>G, NM_001318064.1:c.1932A>G, NM_001318065.1:c.1209A>G, NP_001024.1:p.Thr741=, NP_001304993.1:p.Thr644=, NP_001304994.1:p.Thr403=, XM_005253058.1:c.1980A>G, XM_005253059.1:c.1932A>G, XM_011520277.1:c.1932A>G, XM_011520278.1:c.1557A>G, XM_011520279.1:c.1209A>G, XP_005253115.1:p.Thr660=, XP_005253116.1:p.Thr644=, XP_011518579.1:p.Thr644=, XP_011518580.1:p.Thr519=, XP_011518581.1:p.Thr403=, rs1042857, rs17295553, rs17349998, rs17398272, rs17850106, rs2228120, rs3177016, rs59628733 |
A > G
|
SNP |
T741T
|
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147
Overview
Generic Names
- CACP
- CPDC
- CPDD
- Cis-DDP
- Cis-Diaminedichloroplatinum
- Cis-Diamminedichloroplatinum
- DDP
- DDPT
- Diamminedichloroplatinum
- Platinum Ammine Chloride
- Platinum Ammonium Chloride
- Platinum Diamine Dichloride
- Trans-DDP
- Trans-Diaminedichloroplatinum
- Trans-Diamminedichloroplatinum
- Trans-Dichlorodiammine Platinum
- Trans-Platinumdiammine Dichloride
Trade Names
- Abiplatin
- Biocisplatinum
- Briplatin
- Carboquone
- Cis Pt II
- Cismaplat
- Cisplatine
- Cisplatyl
- Citoplationo
- Lederplatin
- Neoplatin
- Plastin
- Platamine
- Platiblastin
- Platidiam
- Platinex
- Platinol
- Platinol-AQ
- Platinoxan
- Randa
Brand Mixture Names
PharmGKB Accession Id
PA449014
Type(s):
Drug
Description
Cisplatin, cisplatinum or cis-diamminedichloroplatinum(II) (CDDP) is a platinum-based chemotherapy drug used to treat various types of cancers, including sarcomas, some carcinomas (e.g. small cell lung cancer, and ovarian cancer), lymphomas and germ cell tumors. It was the first member of its class, which now also includes carboplatin and oxaliplatin.
Source: Drug Bank
Pharmacogenetics
Cisplatin is one of the most widely used platinum-based antineoplastic agents for treatment of various forms of cancer, including solid tumour and haematological malignancies, cancers of the Testicular Neoplasms, Ovarian Neoplasms, Urinary Bladder Neoplasms, Head and Neck Neoplasms, Esophageal Neoplasms, Stomach Neoplasms and Lung Neoplasms in addition to Lymphoma and Osteosarcoma. Cisplatin is an alkylating agent which destroys cancerous cells through DNA crosslinking, thereby preventing cell division and growth [Article:19525887]. The efficacy of cisplatin is often compromised because of the substantial risk for severe toxicities due to non-specific targeting and intrinsic and/or acquired resistance. Cisplatin has a narrow therapeutic index, and patients may experience toxicities affecting hearing (Ototoxicity) or affecting renal, gastrointestinal, neurological or haematological systems even when administered at standard doses [Articles:19139108, 3538860, 19243296, 19851045].
Pharmacokinetics
Cellular detoxification of cisplatin is regulated by the glutathione-S-transferase (GST) enzymes (GSTP1, GSTM1, GSTM3). Genetic changes influencing the activity of these enzymes may result in variations in cisplatin-induced toxicity or resistance. Association studies have revealed that cisplatin-induced toxicity is associated with genetic variations in GSTP1 [Articles:18855538, 18162130, 17228018, 19638079, 16317430], GSTM1 [Article:18162130], GSTM3 [Article:11081456], LRP2 (megalin) [Article:17457342], TPMT (rs12201199, [Article:19898482]), COMT (rs9332377, [Article:19898482]), TYMS [Article:16317430] and XPC [Article:19434073]. Variants associated with cisplatin-based treatment response are listed on the PGx tab attached to this page.
Transport
The influx of carboplatin into the cell can occur via SLC31A1 (CTR1) [Articles:12391279, 19509135] and SLC31A2 [Article:19509135]. The efflux of cisplatin is mediated by two copper efflux transporters ATP7A and ATP7B [Articles:17318448, 20045993, 18998134]. ATP7A and ATP7B are thought to be involved in resistance to cisplatin, either by sequestering drug away from its targets (ATP7A) or by exporting the drug from the cell (ATP7B). Drug transporters ABCC1 [Articles:17318448, 20045993, 18998134], ABCC2 [Articles:8797578, 19568750], ABCB1 [Article:20189873] and ABCG2 [Articles:20082278, 19900859, 15014021] may also play a role in cisplatin transport and response.
Pharmacodynamics
Cisplatin acts by forming platinum-DNA adducts, and this leads to cell-cycle arrest and apoptosis [Article:19525887]. Candidate genes for cisplatin pharmacodynamics include those involved in excision repair, mismatch repair and double strand break repair. Variants in ERCC1 [Articles:19638079, 19955911, 19620936, 16957145, 19620936, 20189873], ERCC2 [Articles:19434073, 19786980, 19620936], MLH1, MSH2 [Article:20458443], and XRCC1 (Arg399Gln, [Articles:18400332, 20331623]) are associated with cisplatin response. Other candidate genes include BRCA1 [Articles:19638079, 20331623, 19403936, 19249193] and TP53 [Article:19620936].
Genes involved in transport, detoxification and action of the platinum-based drugs including cisplatin are depicted in the Platinum Pathway, Pharmacokinetics/Pharmacodynamics.
An extensive list of candidate SNPs obtained by treatment of Coriell cell lines with cisplatin is available at PACdb [Article:20216476].
Source: PharmGKB [Article:20458443] [Article:20331623] [Article:20216476] [Article:20189873] [Article:19568750] [Article:19786980] [Article:19955911] [Article:19898482] [Article:19900859] [Article:19851045] [Article:19434073] [Article:19249193] [Article:19620936] [Article:19509135] [Article:19525887] [Article:18998134] [Article:19638079] [Article:19403936] [Article:19243296] [Article:19139108] [Article:20045993] [Article:20082278] [Article:18400332] [Article:18855538] [Article:17457342] [Article:17318448] [Article:17228018] [Article:18162130] [Article:16957145] [Article:16317430] [Article:15014021] [Article:12391279] [Article:11081456] [Article:8797578] [Article:3538860]
Indication
For the treatment of metastatic testicular tumors, metastatic ovarian tumors and advanced bladder cancer.
Source: Drug Bank
Other Vocabularies
- ATC: Platinum compounds (L01XA)
- UMLS: Cisplatin (C0008838)
- RxNorm: Cisplatin (2555)
- NDFRT: CISPLATIN (N0000146476)
Information pulled from DrugBank has not been reviewed by PharmGKB.
Pharmacology, Interactions, and Contraindications
Mechanism of Action
Alkylating agents work by three different mechanisms: 1) attachment of alkyl groups to DNA bases, resulting in the DNA being fragmented by repair enzymes in their attempts to replace the alkylated bases, preventing DNA synthesis and RNA transcription from the affected DNA, 2) DNA damage via the formation of cross-links (bonds between atoms in the DNA) which prevents DNA from being separated for synthesis or transcription, and 3) the induction of mispairing of the nucleotides leading to mutations.
Source: Drug Bank
Pharmacology
Cisplatin is an antineoplastic in the class of alkylating agents and is used to treat various forms of cancer. Alkylating agents are so named because of their ability to add alkyl groups to many electronegative groups under conditions present in cells. They stop tumor growth by cross-linking guanine bases in DNA double-helix strands - directly attacking DNA. This makes the strands unable to uncoil and separate. As this is necessary in DNA replication, the cells can no longer divide. In addition, these drugs add methyl or other alkyl groups onto molecules where they do not belong which in turn inhibits their correct utilization by base pairing and causes a miscoding of DNA. Alkylating agents are cell cycle-nonspecific. Alkylating agents work by three different mechanisms all of which achieve the same end result - disruption of DNA function and cell death.
Source: Drug Bank
Food Interaction
Echinacea should be used with caution, if at all, in patients receiving therapeutic immunosuppressants. Monitor for reduced efficacy of the immunosuppressant during concomitant use.
Source: Drug Bank
Absorption, Distribution, Metabolism, Elimination & Toxicity
Route of Elimination
The parent compound, cisplatin, is excreted in the urine. Although small amounts of platinum are present in the bile and large intestine after administration of cisplatin, the fecal excretion of platinum appears to be insignificant.
Source: Drug Bank
Chemical Properties
SMILES
N[Pt](N)(Cl)Cl
Source: Drug Bank
InChI String
InChI=1S/2ClH.2H2N.Pt/h2*1H;2*1H2;/q;;2*-1;+4/p-2
Source: Drug Bank
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 ?
Curated Information ?
Relationships from National Drug File - Reference Terminology (NDF-RT)
May Treat
- cisplatin may treat Astrocytoma
- cisplatin may treat Breast Neoplasms
- cisplatin may treat Carcinoma, Small Cell
- cisplatin may treat Esophageal Neoplasms
- cisplatin may treat Head and Neck Neoplasms
- cisplatin may treat Hodgkin Disease
- cisplatin may treat Lung Neoplasms
- cisplatin may treat Lymphoma, Non-Hodgkin
- cisplatin may treat Melanoma, Amelanotic
- cisplatin may treat Mesothelioma, Cystic
- cisplatin may treat Multiple Myeloma
- cisplatin may treat Neuroblastoma
- cisplatin may treat Osteosarcoma
- cisplatin may treat Ovarian Neoplasms
- cisplatin may treat Prostatic Neoplasms
- cisplatin may treat Sarcoma
- cisplatin may treat Stomach Neoplasms
- cisplatin may treat Testicular Neoplasms
- cisplatin may treat Urinary Bladder Neoplasms
Contraindicated With
- cisplatin contraindicated with Drug Hypersensitivity
- cisplatin contraindicated with Kidney Failure
- cisplatin contraindicated with Neutropenia
- cisplatin contraindicated with Pregnancy
- cisplatin contraindicated with Thrombocytopenia
Publications related to cisplatin: 212
LinkOuts
- Web Resource:
- Wikipedia
- National Drug Code Directory:
- 0015-3072-20
- DrugBank:
- DB00515
- ChEBI:
- 27899
Clinical Trials
These are trials that mention cisplatin and are related to either pharmacogenetics or pharmacogenomics.
No trials loaded.
NURSA Datasets
provided by nursa.org
No NURSA datasets available.