Chemical: Drug
citalopram

Available Guidelines

  1. CPIC Guideline for citalopram,escitalopram and CYP2C19
  2. DPWG Guideline for citalopram and CYP2C19

last updated 09/15/2016

1. CPIC Guideline for citalopram,escitalopram and CYP2C19

Summary

The CPIC Dosing Guideline for the selective serotonin reuptake inhibitors citalopram and escitalopram recommends an alternative drug not predominantly metabolized by CYP2C19 for CYP2C19 ultrarapid metabolizers. For CYP2C19 poor metabolizers, consider a 50% reduction of recommended starting dose and titrate to response or select alternative drug not predominantly metabolized by CYP2C19.

Annotation

August 2015

Advanced online publication May 2015

  • Guidelines regarding the use of pharmacogenomic tests in dosing of selective serotonin reuptake inhibitors have been published in Clinical Pharmacology and Therapeutics by the Clinical Pharmacogenetics Implementation Consortium (CPIC).
  • Excerpts from the 2015 selective serotonin reuptake inhibitors dosing guidelines (for citalopram/escitalopram and CYP2C19):
    • "CYP2C19 ultrarapid metabolizers have significantly lower exposure to these drugs when compared to extensive metabolizers, and therefore may have an increased probability of failing therapy. Because there are insufficient data to calculate an initial citalopram or escitalopram dose for CYP2C19 ultrarapid metabolizers, an alternative SSRI not extensively metabolized by CYP2C19 may be an option if deemed appropriate given other medications and clinical considerations."
    • "Elevated concentrations of these drugs have been observed in poor metabolizers, which may increase the risk of adverse drug reactions. To potentially prevent an adverse effect, an alternative SSRI not extensively metabolized by CYP2C19 should be considered. If citalopram or escitalopram is warranted an initial dosage decrease of 50% should be considered. For citalopram, the FDA recommends a 50% dose reduction (or a maximum dose of 20 mg/day in adults) for CYP2C19 poor metabolizers due to risk of QT prolongation (the FDA recommendation does not apply to escitalopram)."
    • "The recommendations in the guideline and below apply primarily to actions based on genetic tests only; drug interactions and other clinical factors can have a major influence for prescribing decisions for SSRIs and should be taken into consideration before initiating drug therapy."
    • "Data describing the relationship between CYP2D6 or CYP2C19 genotype and SSRI systemic exposure or steady state plasma concentrations in pediatric patients are scarce...CYP2C19 activity may be increased in children relative to adults; therefore, these recommendations should be used with caution in children and accompanied by close monitoring."
  • Download and read:

Table 1: Dosing recommendations for citalopram and escitalopram based on CYP2C19 phenotype:

Adapted from Tables 1 and 3a of the 2015 guideline manuscript.

Likely phenotypeGenotypesExamples of CYP2C19 diplotypesImplications for citalopram/escitalopram metabolismTherapeutic RecommendationsClassification of recommendations a
Ultrarapid metabolizer (~5-30% of patients) bAn individual carrying two increased function alleles or one normal function allele and one increased function allele*17/*17, *1/*17Increased metabolism when compared to extensive metabolizers. Lower plasma concentrations will increase probability of pharmacotherapy failure.Consider an alternative drug not predominantly metabolized by CYP2C19.cModerate
Extensive metabolizer (~35-50% of patients)An individual carrying two normal function alleles*1/*1Normal metabolismInitiate therapy with recommended starting dose.Strong
Intermediate metabolizer (~18-45% of patients)An individual carrying one normal function allele or one increased function allele and one no function allele*1/*2, *1/*3, *2/*17 dReduced metabolism when compared to extensive metabolizers.Initiate therapy with recommended starting dose.Strong
Poor metabolizer (~2-15% of patients)An individual carrying two no function alleles*2/*2, *2/*3, *3/*3Greatly reduced metabolism when compared to extensive metabolizers. Higher plasma concentrations may increase the probability of side effects.Consider a 50% reduction e,f of recommended starting dose and titrate to response or select alternative drug not predominantly metabolized by CYP2C19.cModerate

a Rating scheme described in Supplement.

b CYP2C19 metabolizer status frequencies are based on average multi-ethnic frequency.

c Drug-drug interactions and other patient characteristics (e.g., age, renal function, liver function) should be considered when selecting an alternative therapy.

d The predicted metabolizer phenotype for the*2/*17 genotypes is a provisional classification. The currently available evidence indicates that the CYP2C19*17 increased function allele is unable to completely compensate for the no function CYP2C19*2. See Supplemental Materials for a more comprehensive list of predicted metabolizer phenotypes.

e Per the FDA warning, citalopram 20 mg/day is the maximum recommended dose in CYP2C19 poor metabolizers due to the risk of QT prolongation. FDA product labeling additionally cautions that citalopram dose should be limited to 20 mg/day in patients with hepatic impairment, those taking a CYP2C19 inhibitor, and patients greater than 60 years of age.

f Percent dose adjustments corresponding to percent difference in oral clearances have been calculated/estimated by Stingl et al. [Article:22565785].


last updated 02/07/2014

2. DPWG Guideline for citalopram and CYP2C19

Summary

For CYP2C19 ultrarapid metabolizers, monitor citalopram plasma concentration and titrate dose to a maximum of 150% in response to efficacy and adverse drug event, or select an alternative drug.

Annotation

The Royal Dutch Pharmacists Association - Pharmacogenetics Working Group has evaluated therapeutic dose recommendations for citalopram based on CYP2C19 genotype [Article:21412232]. They conclude to monitor plasma concentration and titrate dose to a maximum of 150% in response to efficacy and adverse drug event or select alternative drug (e.g. fluoxetine, paroxetine) for the CYP2C19 UM phenotype.

Phenotype (Genotype)Therapeutic Dose RecommendationLevel of EvidenceClinical Relevance
CYP2C19 PM (*2/*2, *2/*3, *3/*3)NonePublished controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpointsMinor clinical effect (statistically significant difference): QTc prolongation (<450 ms female, <470 ms male); international normalized ratio (INR) increase < 4.5. Kinetic effect (statistically significant difference)
CYP2C19 IM (*1/*2, *1/*3, *17/*2, *17/*3)NonePublished controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpointsMinor clinical effect (statistically significant difference): QTc prolongation (<450 ms female, <470 ms male); INR increase < 4.5. Kinetic effect (statistically significant difference)
CYP2C19 UM (*17/*17)Monitor plasma concentration and titrate dose to a maximum of 150% in response to efficacy and adverse drug event or select alternative drug (e.g. fluoxetine, paroxetine)Published controlled studies of good quality* relating to phenotyped and/or genotyped patients or healthy volunteers, and having relevant pharmacokinetic or clinical endpointsMinor clinical effect (statistically significant difference): QTc prolongation (<450 ms female, <470 ms male); INR increase < 4.5. Kinetic effect (statistically significant difference)


Annotated Labels

  1. FDA Label for citalopram and CYP2C19,CYP2D6
  2. HCSC Label for citalopram and CYP2C19

last updated 09/01/2016

1. FDA Label for citalopram and CYP2C19,CYP2D6

Actionable PGx
Full label available at DailyMed

Genes and/or phenotypes found in this label

  • Depression
    • Warnings section
    • source: PHONT
  • Depression, Postpartum
    • Warnings section
    • source: PHONT
  • Depressive Disorder
    • Warnings section
    • source: PHONT
  • Depressive Disorder, Major
    • Warnings section
    • source: PHONT
  • Obsessive-Compulsive Disorder
    • Warnings section
    • source: PHONT
  • CYP1A2
    • Clinical pharmacology section
    • source: U.S. Food and Drug Administration
  • CYP2C19
    • toxicity, metabolism/PK, Dosage & administration section, Warnings section, Clinical pharmacology section, Precautions section
    • source: U.S. Food and Drug Administration
  • CYP2C9
    • Clinical pharmacology section
    • source: U.S. Food and Drug Administration
  • CYP2D6
    • metabolism/PK, Clinical pharmacology section, Precautions section
    • source: U.S. Food and Drug Administration
  • CYP2E1
    • Clinical pharmacology section
    • source: U.S. Food and Drug Administration
  • CYP3A4
    • metabolism/PK, Clinical pharmacology section, Precautions section
    • source: U.S. Food and Drug Administration


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 rs2032583 (ABCB1), amitriptyline, antidepressants, citalopram, fluvoxamine, paroxetine, sertraline, venlafaxine, Depression, Depressive Disorder and Depressive Disorder, Major (level 3 Efficacy)

Level of Evidence
Level 3
Type
Efficacy
Variant
rs2032583
Genes
ABCB1
Phenotypes
Depression, Depressive Disorder, Depressive Disorder, Major
OMB Race
White
Race Notes
One study in mostly German patients, the other unknown race.

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 citalopram

Gene ? Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available CA VA CYP2C19 *1 N/A N/A N/A
No VIP available CA VA CYP2C19 *2 N/A N/A N/A
VIP No VIP available No VIP available CYP2C19 *2A N/A N/A N/A
No VIP available CA VA CYP2C19 *3 N/A N/A N/A
VIP No VIP available No VIP available CYP2C19 *3A N/A N/A N/A
No VIP available CA VA CYP2C19 *4 N/A N/A N/A
No VIP available CA VA CYP2C19 *17 N/A N/A N/A
VIP CA VA CYP2D6 *1 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *1xN N/A N/A N/A
VIP CA VA CYP2D6 *2 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *2xN N/A N/A N/A
VIP CA VA CYP2D6 *3 N/A N/A N/A
VIP CA VA CYP2D6 *4 N/A N/A N/A
No VIP available CA VA CYP2D6 *5 N/A N/A N/A
VIP CA VA CYP2D6 *6 N/A N/A N/A
VIP No VIP available No VIP available CYP2D6 *9 N/A N/A N/A
VIP CA VA CYP2D6 *10 N/A N/A N/A
VIP No VIP available VA CYP2D6 *17 N/A N/A N/A
VIP No VIP available No VIP available CYP2D6 *29 N/A N/A N/A
VIP CA VA CYP2D6 *41 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *87 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *88 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *89 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *90 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *91 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *93 N/A N/A N/A
No VIP available No VIP available VA CYP2D6 *98 N/A N/A N/A
No VIP available CA VA SLC6A4 HTTLPR long form (L allele) N/A N/A N/A
No VIP available CA VA SLC6A4 HTTLPR short form (S allele) N/A N/A N/A
No VIP available No VIP available VA SLC6A4 L allele-rs25531C N/A N/A N/A
No VIP available No VIP available VA SLC6A4 L allele-rs25531T N/A N/A N/A
No VIP available No Clinical Annotations available VA
CYP2C19 poor metabolizer N/A N/A N/A
No VIP available No Clinical Annotations available VA
CYP2D6 poor metabolizer N/A N/A N/A
No VIP available CA VA
rs1006737 NC_000012.11:g.2345295G>A, NC_000012.12:g.2236129G>A, NG_008801.2:g.270344G>A, NM_000719.6:c.477+115699G>A, NM_001129827.1:c.477+115699G>A, NM_001129829.1:c.477+115699G>A, NM_001129830.1:c.477+115699G>A, NM_001129830.2:c.477+115699G>A, NM_001129831.1:c.477+115699G>A, NM_001129832.1:c.477+115699G>A, NM_001129833.1:c.477+115699G>A, NM_001129834.1:c.477+115699G>A, NM_001129835.1:c.477+115699G>A, NM_001129836.1:c.477+115699G>A, NM_001129837.1:c.477+115699G>A, NM_001129838.1:c.477+115699G>A, NM_001129839.1:c.477+115699G>A, NM_001129840.1:c.477+115699G>A, NM_001129841.1:c.477+115699G>A, NM_001129842.1:c.477+115699G>A, NM_001129843.1:c.477+115699G>A, NM_001129844.1:c.477+115699G>A, NM_001129846.1:c.477+115699G>A, NM_001167623.1:c.477+115699G>A, NM_001167624.2:c.477+115699G>A, NM_001167625.1:c.477+115699G>A, NM_199460.3:c.477+115699G>A, XM_005253765.1:c.567+115699G>A, XM_005253766.1:c.486+115699G>A, XM_005253767.1:c.486+115699G>A, XM_005253768.1:c.486+115699G>A, XM_005253769.1:c.486+115699G>A, XM_005253770.1:c.486+115699G>A, XM_005253771.1:c.486+115699G>A, XM_005253772.1:c.486+115699G>A, XM_005253773.1:c.486+115699G>A, XM_005253774.1:c.486+115699G>A, XM_005253775.1:c.486+115699G>A, XM_005253776.1:c.486+115699G>A, XM_005253777.1:c.486+115699G>A, XM_005253778.1:c.486+115699G>A, XM_005253779.1:c.486+115699G>A, XM_005253780.1:c.486+115699G>A, XM_005253781.1:c.486+115699G>A, XM_005253782.1:c.486+115699G>A, XM_005253783.1:c.486+115699G>A, XM_005253784.1:c.486+115699G>A, XM_005253785.1:c.486+115699G>A, XM_005253786.1:c.486+115699G>A, XM_005253787.1:c.486+115699G>A, XM_006719017.1:c.567+115699G>A, XM_011521018.1:c.-642+115699G>A, XM_011521020.1:c.567+115699G>A, XM_011521021.1:c.477+115699G>A, XM_011521022.1:c.477+115699G>A, XM_011521023.1:c.477+115699G>A, rs58172614, rs60975541
G > A
SNP
No VIP available CA VA
rs10248420 NC_000007.13:g.87164986A>G, NC_000007.14:g.87535670A>G, NG_011513.1:g.182579T>C, NM_000927.4:c.2481+788T>C, rs56939197
A > G
SNP
No VIP available CA VA
rs10280101 NC_000007.13:g.87153585A>C, NC_000007.14:g.87524269A>C, NG_011513.1:g.193980T>G, NM_000927.4:c.2686-3393T>G, rs56546728, rs57009801
A > C
SNP
No VIP available No Clinical Annotations available 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
rs1065852 NC_000022.10:g.42526694G=, NC_000022.10:g.42526694G>A, NC_000022.11:g.42130692G=, NC_000022.11:g.42130692G>A, NG_008376.3:g.4300C=, NG_008376.3:g.4300C>T, NM_000106.5:c.100C=, NM_000106.5:c.100C>T, NM_001025161.2:c.100C=, NM_001025161.2:c.100C>T, NP_000097.3:p.Pro34=, NP_000097.3:p.Pro34Ser, NP_001020332.2:p.Pro34=, NP_001020332.2:p.Pro34Ser, NT_187682.1:g.53033G=, NT_187682.1:g.53033G>A, NW_004504305.1:g.53019A=, NW_004504305.1:g.53019A>G, NW_009646208.1:g.16258A=, NW_009646208.1:g.16258A>G, XM_005278353.1:c.100T=, XM_005278353.1:c.100T>C, XM_005278354.1:c.-1454C>T, XM_005278354.1:c.-1454T>C, XM_005278354.3:c.-1454C>T, XM_005278354.3:c.-1454T>C, XM_011529966.1:c.100C=, XM_011529966.1:c.100C>T, XM_011529967.1:c.100C=, XM_011529967.1:c.100C>T, XM_011529968.1:c.100C=, XM_011529968.1:c.100C>T, XM_011529969.1:c.37+605C>T, XM_011529969.1:c.37+605T>C, XM_011529970.1:c.100C=, XM_011529970.1:c.100C>T, XM_011529971.1:c.37+605C>T, XM_011529971.1:c.37+605T>C, XM_011529972.1:c.100C=, XM_011529972.1:c.100C>T, XM_011547541.1:c.-1454C>T, XM_011547541.1:c.-1454T>C, XM_011547750.1:c.37+605C>T, XM_011547750.1:c.37+605T>C, XM_011547751.1:c.-1114C>T, XM_011547751.1:c.-1114T>C, XM_011547756.1:c.42+469A>G, XM_011547756.1:c.42+469G>A, XM_011548819.1:c.-1454C>T, XM_011548819.1:c.-1454T>C, XP_005278410.1:p.Ser34=, XP_005278410.1:p.Ser34Pro, XP_011528268.1:p.Pro34=, XP_011528268.1:p.Pro34Ser, XP_011528269.1:p.Pro34=, XP_011528269.1:p.Pro34Ser, XP_011528270.1:p.Pro34=, XP_011528270.1:p.Pro34Ser, XP_011528272.1:p.Pro34=, XP_011528272.1:p.Pro34Ser, XP_011528274.1:p.Pro34=, XP_011528274.1:p.Pro34Ser, XR_430455.2:n.328+4A>G, XR_430455.2:n.328+4G>A, XR_952536.1:n.-1751A>G, XR_952536.1:n.-1751G>A, XR_952537.1:n.-1751A>G, XR_952537.1:n.-1751G>A, XR_952538.1:n.-1751A>G, XR_952538.1:n.-1751G>A, XR_952539.1:n.-1462A>G, XR_952539.1:n.-1462G>A, XR_952745.1:n.1257C=, XR_952745.1:n.1257C>T, rs117813846, rs58862176
G > A
SNP
P34S
No VIP available No Clinical Annotations available VA
rs1074145 NC_000010.10:g.96681846G>A, NC_000010.11:g.94922089G>A, rs17602864, rs4342952
G > A
SNP
No VIP available CA VA
rs10848635 NC_000012.11:g.2316195T>A, NC_000012.12:g.2207029T>A, NG_008801.2:g.241244T>A, NM_000719.6:c.477+86599T>A, NM_001129827.1:c.477+86599T>A, NM_001129829.1:c.477+86599T>A, NM_001129830.1:c.477+86599T>A, NM_001129830.2:c.477+86599T>A, NM_001129831.1:c.477+86599T>A, NM_001129832.1:c.477+86599T>A, NM_001129833.1:c.477+86599T>A, NM_001129834.1:c.477+86599T>A, NM_001129835.1:c.477+86599T>A, NM_001129836.1:c.477+86599T>A, NM_001129837.1:c.477+86599T>A, NM_001129838.1:c.477+86599T>A, NM_001129839.1:c.477+86599T>A, NM_001129840.1:c.477+86599T>A, NM_001129841.1:c.477+86599T>A, NM_001129842.1:c.477+86599T>A, NM_001129843.1:c.477+86599T>A, NM_001129844.1:c.477+86599T>A, NM_001129846.1:c.477+86599T>A, NM_001167623.1:c.477+86599T>A, NM_001167624.2:c.477+86599T>A, NM_001167625.1:c.477+86599T>A, NM_199460.3:c.477+86599T>A, XM_005253765.1:c.567+86599T>A, XM_005253766.1:c.486+86599T>A, XM_005253767.1:c.486+86599T>A, XM_005253768.1:c.486+86599T>A, XM_005253769.1:c.486+86599T>A, XM_005253770.1:c.486+86599T>A, XM_005253771.1:c.486+86599T>A, XM_005253772.1:c.486+86599T>A, XM_005253773.1:c.486+86599T>A, XM_005253774.1:c.486+86599T>A, XM_005253775.1:c.486+86599T>A, XM_005253776.1:c.486+86599T>A, XM_005253777.1:c.486+86599T>A, XM_005253778.1:c.486+86599T>A, XM_005253779.1:c.486+86599T>A, XM_005253780.1:c.486+86599T>A, XM_005253781.1:c.486+86599T>A, XM_005253782.1:c.486+86599T>A, XM_005253783.1:c.486+86599T>A, XM_005253784.1:c.486+86599T>A, XM_005253785.1:c.486+86599T>A, XM_005253786.1:c.486+86599T>A, XM_005253787.1:c.486+86599T>A, XM_006719017.1:c.567+86599T>A, XM_011521018.1:c.-642+86599T>A, XM_011521020.1:c.567+86599T>A, XM_011521021.1:c.477+86599T>A, XM_011521022.1:c.477+86599T>A, XM_011521023.1:c.477+86599T>A, rs60528912
T > A
SNP
No VIP available CA VA
rs10975641 NC_000009.11:g.6556839C>G, NC_000009.12:g.6556839C>G, NG_016397.1:g.93854G>C, NM_000170.2:c.2053-537G>C, XM_005251442.1:c.1807-537G>C, rs60728248
C > G
SNP
No VIP available No Clinical Annotations available VA
rs1109866 NC_000002.11:g.220083279C>T, NC_000002.12:g.219218557C>T, NG_032110.1:g.5434G>A, NM_005689.2:c.117G>A, NP_005680.1:p.Leu39=, XM_005246215.1:c.117G>A, XM_005246216.1:c.117G>A, XP_005246272.1:p.Leu39=, XP_005246273.1:p.Leu39=, XR_241277.1:n.402G>A, rs117984511, rs17844848, rs17857561, rs56878405
C > T
SNP
L39L
No VIP available No Clinical Annotations available VA
rs1109867 NC_000002.11:g.220083453G>T, NC_000002.12:g.219218731G>T, NG_032110.1:g.5260C>A, NM_005689.2:c.-58C>A, XM_005246215.1:c.-58C>A, XM_005246216.1:c.-58C>A, XR_241277.1:n.228C>A, rs2090807, rs60753193
G > T
SNP
No VIP available CA VA
rs11144870 NC_000009.11:g.79004213C>T, NC_000009.12:g.76389297C>T, NM_018339.5:c.235-641G>A, rs58450862
C > T
SNP
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 CA VA
rs11580409 NC_000001.10:g.75038228A>C, NC_000001.11:g.74572544A>C, NM_001002912.4:c.3166T>G, NP_001002912.4:p.Leu1056Val, XM_005270449.1:c.940T>G, XM_005270450.1:c.940T>G, XM_005270450.3:c.940T>G, XM_006710349.2:c.2575T>G, XM_006710350.2:c.1120T>G, XM_006710351.2:c.1078T>G, XM_011540649.1:c.3124T>G, XM_011540650.1:c.1600T>G, XM_011540651.1:c.940T>G, XM_011540652.1:c.940T>G, XM_011540653.1:c.940T>G, XM_011540654.1:c.940T>G, XM_011540655.1:c.940T>G, XM_011540656.1:c.940T>G, XM_011540657.1:c.940T>G, XP_005270506.1:p.Leu314Val, XP_005270507.1:p.Leu314Val, XP_006710412.1:p.Leu859Val, XP_006710413.1:p.Leu374Val, XP_006710414.1:p.Leu360Val, XP_011538951.1:p.Leu1042Val, XP_011538952.1:p.Leu534Val, XP_011538953.1:p.Leu314Val, XP_011538954.1:p.Leu314Val, XP_011538955.1:p.Leu314Val, XP_011538956.1:p.Leu314Val, XP_011538957.1:p.Leu314Val, XP_011538958.1:p.Leu314Val, XP_011538959.1:p.Leu314Val, rs17614662, rs52790803, rs58440344
A > C
SNP
L1056V
No VIP available CA VA
rs11628713 NC_000014.8:g.73721775C>T, NC_000014.9:g.73255067C>T, NM_173462.3:c.1546+49C>T, XM_005268184.1:c.1693+49C>T, XM_005268185.1:c.1648+49C>T, XM_005268186.1:c.1648+49C>T, XM_005268187.1:c.1567+49C>T, XM_011537290.1:c.1627+49C>T, XM_011537291.1:c.1627+49C>T, XM_011537292.1:c.1627+49C>T, XM_011537293.1:c.1648+49C>T, XM_011537294.1:c.1495+49C>T, XM_011537295.1:c.1648+49C>T, XM_011537296.1:c.1648+49C>T, XR_245731.1:n.1729+49C>T, XR_429333.2:n.2838+49C>T, rs61268577
C > T
SNP
No VIP available CA VA
rs11947402 NC_000004.11:g.99601941A>G, NC_000004.12:g.98680790A>G
A > G
SNP
No VIP available CA VA
rs11983225 NC_000007.13:g.87161520T>C, NC_000007.14:g.87532204T>C, NG_011513.1:g.186045A>G, NM_000927.4:c.2482-707A>G
T > C
SNP
No VIP available CA VA
rs12054895 NC_000005.10:g.27611324G>T, NC_000005.9:g.27611431G>T, rs57570722
G > T
SNP
No VIP available CA VA
rs12248560 NC_000010.10:g.96521657C>T, NC_000010.11:g.94761900C>T, NG_008384.2:g.4195C>T, NM_000769.2:c.-806C>T, rs117093607, rs17442305, rs17879736
C > A
C > T
SNP
No VIP available CA VA
rs12720067 NC_000007.13:g.87169356C>T, NC_000007.14:g.87540040C>T, NG_011513.1:g.178209G>A, NM_000927.4:c.2320-695G>A, rs17276510, rs60504551
C > T
SNP
No VIP available CA VA
rs1360780 NC_000006.11:g.35607571T>C, NC_000006.12:g.35639794T>C, NG_012645.2:g.93790A>G, NM_001145775.2:c.106-2636A>G, NM_001145776.1:c.106-2636A>G, NM_001145777.1:c.106-2636A>G, NM_004117.3:c.106-2636A>G, XR_926743.1:n.287+5974T>C, rs58091271
T > C
SNP
No VIP available No Clinical Annotations available VA
rs1374385 NC_000002.11:g.239149645C>G, NC_000002.12:g.238241004C>G, NM_001142853.2:c.-1099G>C, NM_001282434.1:c.-1099G>C, NM_018645.5:c.-1099G>C, XM_005246095.1:c.-1099G>C, XM_005246096.1:c.-1099G>C
C > G
SNP
No VIP available No Clinical Annotations available VA
rs1386494 NC_000012.11:g.72352543T>C, NC_000012.12:g.71958763T>C, NG_008279.1:g.24918T>C, NM_173353.3:c.608+9108T>C, XM_005268642.1:c.626+9108T>C, XM_011537899.1:c.14+9108T>C, XR_245894.1:n.613-2790T>C, XR_245894.2:n.709-2790T>C, rs58409378
T > C
SNP
No VIP available CA VA
rs153549 NC_000005.10:g.112900600A>G, NC_000005.9:g.112236297A>G, NM_005669.4:c.351+1780T>C, XM_005272079.1:c.351+1780T>C, XR_246544.1:n.250-13417T>C, rs257266, rs386536174, rs60076247
A > G
SNP
No VIP available CA VA
rs153560 NC_000005.10:g.112918680G>A, NC_000005.9:g.112254377G>A, NM_005669.4:c.212+2483C>T, XM_005272079.1:c.212+2483C>T, XR_246544.1:n.249+2483C>T, rs257283, rs258307, rs386536182, rs58710272, rs61356570
G > A
SNP
VIP No Clinical Annotations available No Variant Annotations available
rs16947 NC_000022.10:g.42523943A=, NC_000022.10:g.42523943A>G, NC_000022.11:g.42127941G=, NC_000022.11:g.42127941G>A, NG_008376.3:g.7051C=, NG_008376.3:g.7051C>T, NM_000106.5:c.886C=, NM_000106.5:c.886C>T, NM_001025161.2:c.733C=, NM_001025161.2:c.733C>T, NP_000097.3:p.Arg296=, NP_000097.3:p.Arg296Cys, NP_001020332.2:p.Arg245=, NP_001020332.2:p.Arg245Cys, NT_187682.1:g.50282A=, NT_187682.1:g.50282A>G, NW_004504305.1:g.50268G=, NW_004504305.1:g.50268G>A, NW_009646208.1:g.13507G=, NW_009646208.1:g.13507G>A, XM_005278353.1:c.742C=, XM_005278353.1:c.742C>T, XM_005278354.1:c.586C=, XM_005278354.1:c.586C>T, XM_005278354.3:c.586C=, XM_005278354.3:c.586C>T, XM_011529966.1:c.886C=, XM_011529966.1:c.886C>T, XM_011529967.1:c.886C=, XM_011529967.1:c.886C>T, XM_011529968.1:c.886C=, XM_011529968.1:c.886C>T, XM_011529969.1:c.742C=, XM_011529969.1:c.742C>T, XM_011529970.1:c.733C=, XM_011529970.1:c.733C>T, XM_011529971.1:c.742C=, XM_011529971.1:c.742C>T, XM_011529972.1:c.843+233C>T, XM_011529972.1:c.843+233T>C, XM_011547541.1:c.586C=, XM_011547541.1:c.586C>T, XM_011547750.1:c.742T=, XM_011547750.1:c.742T>C, XM_011547751.1:c.670T=, XM_011547751.1:c.670T>C, XM_011547756.1:c.-2094A>G, XM_011547756.1:c.-2094G>A, XM_011548819.1:c.586C=, XM_011548819.1:c.586C>T, XP_005278410.1:p.Arg248=, XP_005278410.1:p.Arg248Cys, XP_005278411.1:p.Arg196=, XP_005278411.1:p.Arg196Cys, XP_011528268.1:p.Arg296=, XP_011528268.1:p.Arg296Cys, XP_011528269.1:p.Arg296=, XP_011528269.1:p.Arg296Cys, XP_011528270.1:p.Arg296=, XP_011528270.1:p.Arg296Cys, XP_011528271.1:p.Arg248=, XP_011528271.1:p.Arg248Cys, XP_011528272.1:p.Arg245=, XP_011528272.1:p.Arg245Cys, XP_011528273.1:p.Arg248=, XP_011528273.1:p.Arg248Cys, XP_011545843.1:p.Arg196=, XP_011545843.1:p.Arg196Cys, XP_011546052.1:p.Cys248=, XP_011546052.1:p.Cys248Arg, XP_011546053.1:p.Cys224=, XP_011546053.1:p.Cys224Arg, XP_011547121.1:p.Arg196=, XP_011547121.1:p.Arg196Cys, XR_430455.2:n.-1930A>G, XR_430455.2:n.-1930G>A, XR_952745.1:n.2000+233C>T, XR_952745.1:n.2000+233T>C, rs117039205, rs57836231
A > G
SNP
R296C
No VIP available CA VA
rs16965962 NC_000013.10:g.105807023C>A, NC_000013.11:g.105154672C>A, rs59413120
C > A
SNP
No VIP available CA VA
rs17135437 NC_000007.13:g.101115994C>T, NC_000007.14:g.101472713C>T, NG_033785.2:g.114894C>T, NM_001278563.2:c.385+24926C>T, NM_133457.4:c.379+24926C>T, rs56649692, rs61650616
C > T
SNP
No VIP available CA VA
rs1799889 NC_000007.13:g.100769711A>G, NC_000007.14:g.101126430A>G, NG_013213.1:g.4333A>G, NM_000602.4:c.-816A>G, XM_005250392.1:c.-816A>G, rs36228268, rs57255496
A > G
SNP
No VIP available CA VA
rs1800532 NC_000011.10:g.18026269G>T, NC_000011.9:g.18047816G>T, NG_011947.1:g.19520C>A, NM_004179.2:c.803+221C>A, XR_242819.1:n.651+221C>A, rs59956346
G > T
SNP
No VIP available No Clinical Annotations available VA
rs1801252 NC_000010.10:g.115804036A>G, NC_000010.11:g.114044277A>G, NG_012187.1:g.5231A>G, NM_000684.2:c.145A>G, NP_000675.1:p.Ser49Gly, rs12720482, rs3740152
A > G
SNP
S49G
No VIP available No Clinical Annotations available VA
rs1801253 NC_000010.10:g.115805056G>C, NC_000010.11:g.114045297G>C, NG_012187.1:g.6251G>C, NM_000684.2:c.1165G>C, NP_000675.1:p.Gly389Arg, rs12718339, rs17091259, rs28365052, rs59130083
G > C
SNP
G389R
No VIP available No Clinical Annotations available VA
rs1805054 NC_000001.10:g.19992513C>T, NC_000001.11:g.19666020C>T, NM_000871.2:c.267C>T, NP_000862.1:p.Tyr89=, rs58500287
C > T
SNP
Y89Y
No VIP available No Clinical Annotations available VA
rs182694 NC_000021.8:g.43698815A>G, NC_000021.9:g.42278705A>G, NM_004915.3:c.588+1760A>G, NM_016818.2:c.588+1760A>G, NM_207174.1:c.621+1760A>G, NM_207627.1:c.594+1760A>G, NM_207628.1:c.522+1760A>G, NM_207629.1:c.579+1760A>G, XM_005261209.1:c.621+1760A>G, XM_011529806.1:c.621+1760A>G, XM_011529807.1:c.621+1760A>G, rs386546127, rs403955, rs61034116, rs690879
A > G
SNP
No VIP available No Clinical Annotations available VA
rs1954787 NC_000011.10:g.120792654T>C, NC_000011.9:g.120663363T>C, NG_042194.1:g.285909T>C, NM_001282470.2:c.83-10039T>C, NM_001282473.2:c.83-10039T>C, NM_014619.4:c.83-10039T>C, XM_005271519.1:c.83-10039T>C, XM_005271520.1:c.83-10039T>C, XM_011542783.1:c.83-10039T>C, XM_011542784.1:c.83-10039T>C, XM_011542785.1:c.83-10039T>C, rs17245727, rs60428773
T > C
SNP
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 CA VA
rs2032583 NC_000007.13:g.87160561A>G, NC_000007.14:g.87531245A>G, NG_011513.1:g.187004T>C, NM_000927.4:c.2685+49T>C, rs386553611, rs58572471
A > G
SNP
No VIP available CA VA
rs2227631 NC_000007.13:g.100769538A>G, NC_000007.14:g.101126257A>G, NG_013213.1:g.4160A>G, NM_000602.4:c.-989A>G, XM_005250392.1:c.-989A>G, rs17252074, rs36228270, rs3807512, rs61391252
A > G
SNP
No VIP available CA VA
rs2235015 NC_000007.13:g.87199564C>A, NC_000007.14:g.87570248C>A, NG_011513.1:g.148001G>T, NM_000927.4:c.287-25G>T, rs59310468
C > A
SNP
No VIP available CA VA
rs2235040 NC_000007.13:g.87165750C>T, NC_000007.14:g.87536434C>T, NG_011513.1:g.181815G>A, NM_000927.4:c.2481+24G>A, rs10383656, rs386562018, rs59503449, rs60553448
C > T
SNP
No VIP available CA VA
rs2235067 NC_000007.13:g.87149922C>T, NC_000007.14:g.87520606C>T, NG_011513.1:g.197643G>A, NM_000927.4:c.2786+170G>A, rs10345072, rs17149713, rs386562030, rs57277203
C > T
SNP
No VIP available CA VA
rs2270007 NC_000007.13:g.30699972G>C, NC_000007.14:g.30660356G>C, NG_029169.1:g.44748C>G, NM_001202475.1:c.912+217C>G, NM_001202481.1:c.789+217C>G, NM_001202482.1:c.828+217C>G, NM_001202483.1:c.831+217C>G, NM_001883.4:c.831+217C>G, XM_011515127.1:c.831+217C>G, XM_011515128.1:c.831+217C>G, XM_011515129.1:c.831+217C>G, XR_242065.1:n.1076+217C>G, rs10366828, rs57037816
G > C
SNP
No VIP available No Clinical Annotations available VA
rs2518224 NC_000006.11:g.101906652A>C, NC_000006.12:g.101458776A>C, NG_009224.2:g.64748A>C, NM_001166247.1:c.115+59384A>C, NM_021956.4:c.115+59384A>C, NM_175768.3:c.115+59384A>C, XM_005266945.1:c.115+59384A>C, XM_005266945.2:c.115+59384A>C, XM_005266947.1:c.115+59384A>C, XM_005266948.1:c.115+59384A>C, XM_005266949.1:c.115+59384A>C, XM_011535777.1:c.115+59384A>C, XM_011535778.1:c.115+59384A>C, XM_011535779.1:c.115+59384A>C, XM_011535780.1:c.115+59384A>C, XM_011535781.1:c.115+59384A>C, XR_942819.1:n.249+917A>C, rs17814833, rs61400814
A > C
SNP
No VIP available CA VA
rs25531 NC_000017.10:g.28564346T>C, NC_000017.11:g.30237328T>C, NG_011747.2:g.3609A>G, NM_001045.5:c.-1936A>G, XM_005258025.1:c.-1810A>G, XR_934652.1:n.-225T>C, XR_934653.1:n.-225T>C, XR_934654.1:n.165+258T>C, XR_934655.1:n.-225T>C, rs2020931, rs35593448
T > C
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
VIP No Clinical Annotations available No Variant Annotations available
rs28371706 NC_000022.10:g.42525772G>A, NC_000022.11:g.42129770G>A, NG_008376.3:g.5222C>T, NM_000106.5:c.320C>T, NM_001025161.2:c.320C>T, NP_000097.3:p.Thr107Ile, NP_001020332.2:p.Thr107Ile, NT_187682.1:g.52111G>A, NW_004504305.1:g.52097G>A, NW_009646208.1:g.15336G>A, XM_005278353.1:c.320C>T, XM_005278354.1:c.-532C>T, XM_005278354.3:c.-532C>T, XM_011529966.1:c.320C>T, XM_011529967.1:c.320C>T, XM_011529968.1:c.320C>T, XM_011529969.1:c.177C>T, XM_011529970.1:c.320C>T, XM_011529971.1:c.177C>T, XM_011529972.1:c.320C>T, XM_011547541.1:c.-532C>T, XM_011547750.1:c.177C>T, XM_011547751.1:c.-192C>T, XM_011547756.1:c.-265G>A, XM_011548819.1:c.-532C>T, XP_005278410.1:p.Thr107Ile, XP_011528268.1:p.Thr107Ile, XP_011528269.1:p.Thr107Ile, XP_011528270.1:p.Thr107Ile, XP_011528271.1:p.His59=, XP_011528272.1:p.Thr107Ile, XP_011528273.1:p.His59=, XP_011528274.1:p.Thr107Ile, XP_011546052.1:p.His59=, XR_430455.2:n.-101G>A, XR_952745.1:n.1477C>T, rs587777915, rs59604033
G > A
SNP
T107I
VIP No Clinical Annotations available No Variant Annotations available
rs28371725 NC_000022.10:g.42523805C>T, NC_000022.11:g.42127803C>T, NG_008376.3:g.7189G>A, NM_000106.5:c.985+39G>A, NM_001025161.2:c.832+39G>A, NT_187682.1:g.50144C>T, NW_004504305.1:g.50130C>T, NW_009646208.1:g.13369C>T, XM_005278353.1:c.841+39G>A, XM_005278354.1:c.685+39G>A, XM_005278354.3:c.685+39G>A, XM_011529966.1:c.985+39G>A, XM_011529967.1:c.985+39G>A, XM_011529968.1:c.985+39G>A, XM_011529969.1:c.841+39G>A, XM_011529970.1:c.832+39G>A, XM_011529971.1:c.841+39G>A, XM_011529972.1:c.844-169G>A, XM_011547541.1:c.724G>A, XM_011547750.1:c.841+39G>A, XM_011547751.1:c.769+39G>A, XM_011548819.1:c.724G>A, XP_011545843.1:p.Glu242Lys, XP_011547121.1:p.Glu242Lys, XR_952745.1:n.2001-169G>A, rs57124011, rs587777916
C > T
SNP
No VIP available CA VA
rs28401781 NC_000007.13:g.87148328C>T, NC_000007.14:g.87519012C>T, NG_011513.1:g.199237G>A, NM_000927.4:c.2927+314G>A, rs66798261
C > T
SNP
No VIP available CA VA
rs334558 NC_000003.11:g.119813282A>G, NC_000003.12:g.120094435A>G, NG_012922.1:g.4983T>C, NM_001146156.1:c.-1001T>C, NM_002093.3:c.-1001T>C, XM_006713610.1:c.-1001T>C, XM_006713611.1:c.-1001T>C, rs1259135, rs787424
A > G
SNP
No VIP available CA VA
rs352428 NC_000008.10:g.28478892A>G, NC_000008.11:g.28621375A>G, XR_949615.1:n.364A>G, XR_949617.1:n.-1374A>G, rs111187477, rs17296851, rs56517430, rs57272508
A > G
SNP
VIP No Clinical Annotations available No Variant Annotations available
rs35742686 NC_000022.10:g.42524244delT, NC_000022.11:g.42128242delT, NG_008376.3:g.6750delA, NM_000106.5:c.775delA, NM_001025161.2:c.622delA, NP_000097.3:p.Arg259Glyfs, NP_001020332.2:p.Arg208Glyfs, NT_187682.1:g.50583delT, NW_004504305.1:g.50569delT, NW_009646208.1:g.13808delT, XM_005278353.1:c.631delA, XM_005278354.1:c.475delA, XM_005278354.3:c.475delA, XM_011529966.1:c.775delA, XM_011529967.1:c.775delA, XM_011529968.1:c.775delA, XM_011529969.1:c.631delA, XM_011529970.1:c.622delA, XM_011529971.1:c.631delA, XM_011529972.1:c.775delA, XM_011547541.1:c.475delA, XM_011547750.1:c.631delA, XM_011547751.1:c.559delA, XM_011547756.1:c.-1793delT, XM_011548819.1:c.475delA, XP_005278410.1:p.Arg211Glyfs, XP_005278411.1:p.Arg159Glyfs, XP_011528268.1:p.Arg259Glyfs, XP_011528269.1:p.Arg259Glyfs, XP_011528270.1:p.Arg259Glyfs, XP_011528271.1:p.Arg211Glyfs, XP_011528272.1:p.Arg208Glyfs, XP_011528273.1:p.Arg211Glyfs, XP_011528274.1:p.Arg259Glyfs, XP_011545843.1:p.Arg159Glyfs, XP_011546052.1:p.Arg211Glyfs, XP_011546053.1:p.Arg187Glyfs, XP_011547121.1:p.Arg159Glyfs, XR_430455.2:n.-1629delT, XR_952745.1:n.1932delA, rs45593132, rs60790764
T > -
T > T
indel
R259G
No VIP available No Clinical Annotations available VA
rs363343 NC_000010.10:g.119014948C>A, NC_000010.11:g.117255437C>A, NM_003054.4:c.791-42C>A, rs58082994
C > A
SNP
No VIP available No Clinical Annotations available VA
rs363371 NC_000010.10:g.118986396G>A, NC_000010.11:g.117226885G>A, rs56433345, rs60933142
G > A
SNP
No VIP available No Clinical Annotations available VA
rs363390 NC_000010.10:g.119004079G>C, NC_000010.11:g.117244568G>C, NM_003054.4:c.464+255G>C, XR_946342.1:n.-1805C>G, rs59729204
G > C
SNP
No VIP available No Clinical Annotations available VA
rs3731885 NC_000002.11:g.220084469G>A, NC_000002.12:g.219219747G>A, NG_032110.1:g.4244C>T, NM_001077198.2:c.*700C>T, NM_005689.2:c.-1074C>T, NM_024085.4:c.*700C>T, NR_104255.1:n.3396C>T, XM_005246215.1:c.-1074C>T, XM_005246216.1:c.-1074C>T, XM_005246841.1:c.*700C>T, XM_005246842.1:c.*700C>T, XM_005246843.1:c.*700C>T, XM_005246844.1:c.*700C>T, XM_005246845.1:c.*700C>T, XM_005246846.1:c.*700C>T, XM_005246847.1:c.*700C>T, XR_241277.1:n.-789C>T, XR_241322.1:n.3373C>T, rs56445265, rs58321502
G > -
G > A
SNP
No VIP available No Clinical Annotations available VA
rs3747802 NC_000007.13:g.87342586A>G, NC_000007.14:g.87713270A>G, NG_011513.1:g.4979T>C, NM_000927.4:c.-440T>C, NM_001134405.1:c.458+2615A>G, NM_001134406.1:c.458+2615A>G, NM_138290.2:c.509+2615A>G, XM_005250156.1:c.458+2615A>G, XM_005250156.2:c.458+2615A>G, XM_005250157.1:c.116+2615A>G, XM_005250158.1:c.98+2615A>G, XM_005250158.2:c.98+2615A>G, XM_011515826.1:c.509+2615A>G, XM_011515827.1:c.509+2615A>G, XM_011515828.1:c.116+2615A>G, XM_011515829.1:c.116+2615A>G, rs61084035
A > G
SNP
No VIP available No Clinical Annotations available VA
rs3755047 NC_000002.11:g.220084864G>A, NC_000002.12:g.219220142G>A, NG_032110.1:g.3849C>T, NM_001077198.2:c.*305C>T, NM_005689.2:c.-1469C>T, NM_024085.4:c.*305C>T, NR_104255.1:n.3001C>T, XM_005246215.1:c.-1469C>T, XM_005246216.1:c.-1469C>T, XM_005246841.1:c.*305C>T, XM_005246842.1:c.*305C>T, XM_005246843.1:c.*305C>T, XM_005246844.1:c.*305C>T, XM_005246845.1:c.*305C>T, XM_005246846.1:c.*305C>T, XM_005246847.1:c.*305C>T, XR_241277.1:n.-1184C>T, XR_241322.1:n.2978C>T, rs16859670
G > -
G > A
SNP
No VIP available No Clinical Annotations available VA
rs3800373 NC_000006.11:g.35542476C>A, NC_000006.12:g.35574699C>A, NG_012645.2:g.158885G>T, NM_001145775.2:c.*1136G>T, NM_001145776.1:c.*1136G>T, NM_004117.3:c.*1136G>T, XR_242006.1:n.180-18331C>A, XR_242006.2:n.433-18331C>A, XR_242008.1:n.201-18331C>A, rs386586584, rs60032290
C > A
SNP
rs3892097 NC_000022.10:g.42524947C=, NC_000022.10:g.42524947C>T, NC_000022.11:g.42128945C=, NC_000022.11:g.42128945C>T, NG_008376.3:g.6047G=, NG_008376.3:g.6047G>A, NM_000106.5:c.506-1A>G, NM_000106.5:c.506-1G>A, NM_001025161.2:c.353-1A>G, NM_001025161.2:c.353-1G>A, NT_187682.1:g.51286C=, NT_187682.1:g.51286C>T, NW_004504305.1:g.51272T=, NW_004504305.1:g.51272T>C, NW_009646208.1:g.14511C=, NW_009646208.1:g.14511C>T, XM_005278353.1:c.363-2A>G, XM_005278353.1:c.363-2G>A, XM_005278354.1:c.207-2A>G, XM_005278354.1:c.207-2G>A, XM_005278354.3:c.207-2A>G, XM_005278354.3:c.207-2G>A, XM_011529966.1:c.506-1A>G, XM_011529966.1:c.506-1G>A, XM_011529967.1:c.506-1A>G, XM_011529967.1:c.506-1G>A, XM_011529968.1:c.506-1A>G, XM_011529968.1:c.506-1G>A, XM_011529969.1:c.363-2A>G, XM_011529969.1:c.363-2G>A, XM_011529970.1:c.353-1A>G, XM_011529970.1:c.353-1G>A, XM_011529971.1:c.363-2A>G, XM_011529971.1:c.363-2G>A, XM_011529972.1:c.506-1A>G, XM_011529972.1:c.506-1G>A, XM_011547541.1:c.207-2A>G, XM_011547541.1:c.207-2G>A, XM_011547750.1:c.363-2A>G, XM_011547750.1:c.363-2G>A, XM_011547751.1:c.290-1A>G, XM_011547751.1:c.290-1G>A, XM_011547756.1:c.-1090C>T, XM_011547756.1:c.-1090T>C, XM_011548819.1:c.207-2A>G, XM_011548819.1:c.207-2G>A, XR_430455.2:n.-926C>T, XR_430455.2:n.-926T>C, XR_952745.1:n.1663-1A>G, XR_952745.1:n.1663-1G>A, rs1800716, rs28371711, rs60082401, rs606231227
C > T
SNP
No VIP available CA VA
rs4148739 NC_000007.13:g.87161049T>C, NC_000007.14:g.87531733T>C, NG_011513.1:g.186516A>G, NM_000927.4:c.2482-236A>G, rs10381901, rs117890992
T > C
SNP
No VIP available CA VA
rs4148740 NC_000007.13:g.87152103A>G, NC_000007.14:g.87522787A>G, NG_011513.1:g.195462T>C, NM_000927.4:c.2686-1911T>C, rs10380430
A > G
SNP
rs4244285 NC_000010.10:g.96541616G>A, NC_000010.11:g.94781859G>A, NG_008384.2:g.24154G>A, NM_000769.1:c.681G>A, NM_000769.2:c.681G>A, NP_000760.1:p.Pro227=, rs116940633, rs17879456, rs60361278
G > A
SNP
P227P
No VIP available CA VA
rs4570625 NC_000012.11:g.72331923G>T, NC_000012.12:g.71938143G>T, NG_008279.1:g.4298G>T, NM_173353.3:c.-844G>T, XM_005268642.1:c.-844G>T, XR_245894.1:n.-840G>T, XR_245894.2:n.-744G>T, rs60080807
G > T
SNP
No VIP available CA VA
rs4675690 NC_000002.11:g.208507807C>T, NC_000002.12:g.207643083C>T, rs59133925
C > T
SNP
No VIP available CA VA
rs4713916 NC_000006.11:g.35669983A>G, NC_000006.12:g.35702206A>G, NG_012645.2:g.31378T>C, NM_001145775.2:c.-20+18122T>C, rs17230143, rs35464630, rs9470083
A > G
SNP
No VIP available CA VA
rs4825476 NC_000023.10:g.122441479G>A, NC_000023.11:g.123307628G>A, NG_009377.2:g.128386G>A, NM_000828.4:c.509-18398G>A, NM_007325.4:c.509-18398G>A, XM_005262406.1:c.509-18398G>A, XM_005262407.1:c.-23-18398G>A, rs17330470, rs58985962
G > A
SNP
No VIP available CA VA
rs495794 NC_000005.10:g.112865397A>G, NC_000005.9:g.112201094A>G, NM_001204193.1:c.301+665A>G, NM_001204194.1:c.229+665A>G, NM_001204196.1:c.225+665A>G, NM_001204199.1:c.301+665A>G, NM_003135.2:c.301+665A>G, rs11566789, rs3797706, rs74294430
A > G
SNP
VIP No Clinical Annotations available No Variant Annotations available
rs4986893 NC_000010.10:g.96540410G>A, NC_000010.11:g.94780653G>A, NG_008384.2:g.22948G>A, NM_000769.2:c.636G>A, NP_000760.1:p.Trp212Ter, rs52827375, rs57081121
G > A
SNP
W212*
VIP No Clinical Annotations available No Variant Annotations available
rs5030655 NC_000022.10:g.42525086delA, NC_000022.11:g.42129084delA, NG_008376.3:g.5908delT, NM_000106.5:c.454delT, NM_001025161.2:c.353-140delT, NP_000097.3:p.Trp152Glyfs, NT_187682.1:g.51425delA, NW_004504305.1:g.51411delA, NW_009646208.1:g.14650delA, XM_005278353.1:c.363-141delT, XM_005278354.1:c.155delT, XM_005278354.3:c.155delT, XM_011529966.1:c.454delT, XM_011529967.1:c.454delT, XM_011529968.1:c.454delT, XM_011529969.1:c.311delT, XM_011529970.1:c.353-140delT, XM_011529971.1:c.311delT, XM_011529972.1:c.454delT, XM_011547541.1:c.155delT, XM_011547750.1:c.311delT, XM_011547751.1:c.238delT, XM_011547756.1:c.-951delA, XM_011548819.1:c.155delT, XP_005278411.1:p.Val52Glyfs, XP_011528268.1:p.Trp152Glyfs, XP_011528269.1:p.Trp152Glyfs, XP_011528270.1:p.Trp152Glyfs, XP_011528271.1:p.Val104Glyfs, XP_011528273.1:p.Val104Glyfs, XP_011528274.1:p.Trp152Glyfs, XP_011545843.1:p.Val52Glyfs, XP_011546052.1:p.Val104Glyfs, XP_011546053.1:p.Trp80Glyfs, XP_011547121.1:p.Val52Glyfs, XR_430455.2:n.-787delA, XR_952745.1:n.1611delT, rs11568727, rs28371709
A > -
A > A
indel
W152G
VIP No Clinical Annotations available No Variant Annotations available
rs5030656 NC_000022.10:g.42524176_42524178delCTT, NC_000022.11:g.42128174_42128176delCTT, NG_008376.3:g.6816_6818delAAG, NM_000106.5:c.841_843delAAG, NM_001025161.2:c.688_690delAAG, NP_000097.3:p.Lys281del, NP_001020332.2:p.Lys230del, NT_187682.1:g.50515_50517delCTT, NW_004504305.1:g.50501_50503delCTT, NW_009646208.1:g.13740_13742delCTT, XM_005278353.1:c.697_699delAAG, XM_005278354.1:c.541_543delAAG, XM_005278354.3:c.541_543delAAG, XM_011529966.1:c.841_843delAAG, XM_011529967.1:c.841_843delAAG, XM_011529968.1:c.841_843delAAG, XM_011529969.1:c.697_699delAAG, XM_011529970.1:c.688_690delAAG, XM_011529971.1:c.697_699delAAG, XM_011529972.1:c.841_843delAAG, XM_011547541.1:c.541_543delAAG, XM_011547750.1:c.697_699delAAG, XM_011547751.1:c.625_627delAAG, XM_011547756.1:c.-1861_-1859del, XM_011548819.1:c.541_543delAAG, XP_005278410.1:p.Lys233del, XP_005278411.1:p.Lys181del, XP_011528268.1:p.Lys281del, XP_011528269.1:p.Lys281del, XP_011528270.1:p.Lys281del, XP_011528271.1:p.Lys233del, XP_011528272.1:p.Lys230del, XP_011528273.1:p.Lys233del, XP_011528274.1:p.Lys281del, XP_011545843.1:p.Lys181del, XP_011546052.1:p.Lys233del, XP_011546053.1:p.Lys209del, XP_011547121.1:p.Lys181del, XR_430455.2:n.-1697_-1695del, XR_952745.1:n.1998_2000delAAG, rs587777919
CTT > -
CTT > CTT
indel
No VIP available CA VA
rs520210 NC_000018.10:g.58140841G>A, NC_000018.9:g.55808073G>A, NG_029954.1:g.101464G>A, NM_001144964.1:c.-315-24947G>A, NM_001144967.2:c.49-24947G>A, NM_001243960.1:c.49-24947G>A, NM_015277.5:c.49-24947G>A, XM_005266666.1:c.49-24947G>A, XM_006722426.2:c.49-24947G>A, XM_006722428.2:c.49-24947G>A, rs56503292, rs56865389
G > A
SNP
No VIP available No Clinical Annotations available VA
rs56294817 NC_000002.11:g.239148970C>A, NC_000002.12:g.238240329C>A, NM_001142853.2:c.-424G>T, NM_001282434.1:c.-424G>T, NM_018645.5:c.-424G>T, XM_005246095.1:c.-424G>T, XM_005246096.1:c.-424G>T
C > A
SNP
No VIP available No Clinical Annotations available VA
rs57098334
(AGCCCACCC)9 > (AGCCCACCC)10
(AGCCCACCC)9 > (AGCCCACCC)12
microsatellite
No VIP available CA VA
rs585719 NC_000013.10:g.47056399C>T, NC_000013.11:g.46482264C>T, rs12873693, rs17068215, rs56639674, rs61175516
C > T
SNP
VIP No Clinical Annotations available No Variant Annotations available
rs59421388 NC_000022.10:g.42523610C>T, NC_000022.11:g.42127608C>T, NG_008376.3:g.7384G>A, NM_000106.5:c.1012G>A, NM_001025161.2:c.859G>A, NP_000097.3:p.Val338Met, NP_001020332.2:p.Val287Met, NT_187682.1:g.49949C>T, NW_004504305.1:g.49935C>T, NW_009646208.1:g.13174C>T, XM_005278353.1:c.868G>A, XM_005278354.1:c.712G>A, XM_005278354.3:c.712G>A, XM_011529966.1:c.1012G>A, XM_011529967.1:c.1012G>A, XM_011529968.1:c.1012G>A, XM_011529969.1:c.868G>A, XM_011529970.1:c.859G>A, XM_011529971.1:c.868G>A, XM_011529972.1:c.870G>A, XM_011547541.1:c.*118G>A, XM_011547750.1:c.868G>A, XM_011547751.1:c.796G>A, XM_011548819.1:c.*118G>A, XP_005278410.1:p.Val290Met, XP_005278411.1:p.Val238Met, XP_011528268.1:p.Val338Met, XP_011528269.1:p.Val338Met, XP_011528270.1:p.Val338Met, XP_011528271.1:p.Val290Met, XP_011528272.1:p.Val287Met, XP_011528273.1:p.Val290Met, XP_011528274.1:p.Thr290=, XP_011546052.1:p.Val290Met, XP_011546053.1:p.Val266Met, XR_952745.1:n.2027G>A
C > T
SNP
V338M
No VIP available CA VA
rs6127921 NC_000020.10:g.55638750A>C, NC_000020.11:g.57063694A>C, rs61127751
A > C
SNP
VIP No Clinical Annotations available No Variant Annotations available
rs61736512 NC_000022.10:g.42525134C>T, NC_000022.11:g.42129132C>T, NG_008376.3:g.5860G>A, NM_000106.5:c.406G>A, NM_001025161.2:c.353-188G>A, NP_000097.3:p.Val136Met, NT_187682.1:g.51473C>T, NW_004504305.1:g.51459C>T, NW_009646208.1:g.14698C>T, XM_005278353.1:c.363-189G>A, XM_005278354.1:c.107G>A, XM_005278354.3:c.107G>A, XM_011529966.1:c.406G>A, XM_011529967.1:c.406G>A, XM_011529968.1:c.406G>A, XM_011529969.1:c.263G>A, XM_011529970.1:c.353-188G>A, XM_011529971.1:c.263G>A, XM_011529972.1:c.406G>A, XM_011547541.1:c.107G>A, XM_011547750.1:c.263G>A, XM_011547751.1:c.190G>A, XM_011547756.1:c.-903C>T, XM_011548819.1:c.107G>A, XP_005278411.1:p.Arg36His, XP_011528268.1:p.Val136Met, XP_011528269.1:p.Val136Met, XP_011528270.1:p.Val136Met, XP_011528271.1:p.Arg88His, XP_011528273.1:p.Arg88His, XP_011528274.1:p.Val136Met, XP_011545843.1:p.Arg36His, XP_011546052.1:p.Arg88His, XP_011546053.1:p.Val64Ile, XP_011547121.1:p.Arg36His, XR_430455.2:n.-739C>T, XR_952745.1:n.1563G>A
C > T
SNP
V136M
No VIP available CA VA
rs6265 NC_000011.10:g.27658369C>T, NC_000011.9:g.27679916C>T, NG_011794.1:g.68690G>A, NM_001143805.1:c.196G>A, NM_001143806.1:c.196G>A, NM_001143807.1:c.196G>A, NM_001143808.1:c.196G>A, NM_001143809.1:c.283G>A, NM_001143810.1:c.442G>A, NM_001143811.1:c.196G>A, NM_001143812.1:c.196G>A, NM_001143813.1:c.196G>A, NM_001143814.1:c.196G>A, NM_001143816.1:c.196G>A, NM_001709.4:c.196G>A, NM_170731.4:c.220G>A, NM_170732.4:c.196G>A, NM_170733.3:c.196G>A, NM_170734.3:c.241G>A, NM_170735.5:c.196G>A, NP_001137277.1:p.Val66Met, NP_001137278.1:p.Val66Met, NP_001137279.1:p.Val66Met, NP_001137280.1:p.Val66Met, NP_001137281.1:p.Val95Met, NP_001137282.1:p.Val148Met, NP_001137283.1:p.Val66Met, NP_001137284.1:p.Val66Met, NP_001137285.1:p.Val66Met, NP_001137286.1:p.Val66Met, NP_001137288.1:p.Val66Met, NP_001700.2:p.Val66Met, NP_733927.1:p.Val74Met, NP_733928.1:p.Val66Met, NP_733929.1:p.Val66Met, NP_733930.1:p.Val81Met, NP_733931.1:p.Val66Met, NR_002832.2:n.503C>T, NR_033312.1:n.434C>T, NR_033313.1:n.434C>T, NR_033314.1:n.503C>T, NR_033315.1:n.434C>T, XM_005253060.1:c.442G>A, XM_011520280.1:c.442G>A, XP_005253117.1:p.Val148Met, XP_011518582.1:p.Val148Met, XR_242807.1:n.355C>T, XR_242808.1:n.352C>T, XR_242809.1:n.224-802C>T, rs16917222, rs17855547, rs3829232, rs386602118, rs60760775
C > -
C > A
SNP
V66M
No VIP available No Clinical Annotations available VA
rs6295 NC_000005.10:g.63962738C>G, NC_000005.9:g.63258565C>G, NG_032816.1:g.4555G>C, NM_000524.3:c.-1019G>C
C > G
SNP
No VIP available CA VA
rs6296 NC_000006.11:g.78172260C>G, NC_000006.12:g.77462543C>G, NM_000863.2:c.861G>C, NP_000854.1:p.Val287=, XR_942706.1:n.545-11983C>G, XR_942707.1:n.545-11983C>G, XR_942708.1:n.545-11983C>G, XR_942709.1:n.545-11983C>G, rs3748086, rs61223995
C > G
SNP
V287V
No VIP available No Clinical Annotations available VA
rs6311 NC_000013.10:g.47471478C>T, NC_000013.11:g.46897343C>T, NG_013011.1:g.4692G>A, NM_000621.4:c.-998G>A, NM_001165947.2:c.-510G>A, rs36213154, rs61203218
C > T
SNP
No VIP available CA VA
rs6313 NC_000013.10:g.47469940G>A, NC_000013.11:g.46895805G>A, NG_013011.1:g.6230C>T, NM_000621.4:c.102C>T, NM_001165947.2:c.160+869C>T, NP_000612.1:p.Ser34=, rs17367493, rs3742280, rs386602276, rs57425741
G > A
SNP
S34S
No VIP available No Clinical Annotations available VA
rs6318 NC_000023.10:g.113965735G=, NC_000023.10:g.113965735G>C, NC_000023.11:g.114731326C=, NC_000023.11:g.114731326C>G, NG_012082.2:g.152242G=, NG_012082.2:g.152242G>C, NM_000868.3:c.68G=, NM_000868.3:c.68G>C, NM_001256760.2:c.68G=, NM_001256760.2:c.68G>C, NM_001256761.2:c.68G=, NM_001256761.2:c.68G>C, NP_000859.1:p.Cys23=, NP_000859.1:p.Cys23Ser, NP_001243689.1:p.Cys23=, NP_001243689.1:p.Cys23Ser, NP_001243690.1:p.Cys23=, NP_001243690.1:p.Cys23Ser, NW_004070891.1:g.400128C=, NW_004070891.1:g.400128C>G, XR_944300.1:n.209-550C>G, XR_944300.1:n.209-550G>C, XR_944301.1:n.209-550C>G, XR_944301.1:n.209-550G>C
G > C
SNP
C23S
No VIP available No Clinical Annotations available VA
rs6946119 NC_000007.13:g.87128865T>C, NC_000007.14:g.87499549T>C, rs57742520
T > C
SNP
No VIP available CA VA
rs6966038 NC_000007.13:g.156880398A>G, NC_000007.14:g.157087704A>G, rs60293508
A > G
SNP
No VIP available CA No Variant Annotations available
rs696692 NC_000001.10:g.75057586T>C, NC_000001.11:g.74591902T>C, NM_001002912.4:c.1727-1822A>G, NR_121670.1:n.173+1995T>C, NR_121671.1:n.80+14393T>C, XM_006710349.2:c.1136-1822A>G, XM_011540649.1:c.1727-1822A>G, XM_011540650.1:c.161-1822A>G, XR_246345.1:n.277+14393T>C, rs1709069, rs386606219, rs59181155
T > C
SNP
No VIP available CA VA
rs7103411 NC_000011.10:g.27678578C>T, NC_000011.9:g.27700125C>T, NG_011794.1:g.48481G>A, NM_001143805.1:c.-21-19993G>A, NM_001143806.1:c.-21-19993G>A, NM_001143807.1:c.-21-19993G>A, NM_001143808.1:c.-21-19993G>A, NM_001143809.1:c.67-19993G>A, NM_001143810.1:c.-58-4236G>A, NM_001143811.1:c.-421-4236G>A, NM_001143812.1:c.-21-19993G>A, NM_001143813.1:c.-21-19993G>A, NM_001143814.1:c.-128-19652G>A, NM_001709.4:c.-21-19993G>A, NM_170731.4:c.4-19993G>A, NM_170732.4:c.-21-19993G>A, NM_170733.3:c.-21-19993G>A, NM_170734.3:c.25-19993G>A, NR_033312.1:n.1307+1439C>T, NR_033313.1:n.586-18900C>T, NR_033315.1:n.743+1439C>T
C > T
SNP
No VIP available CA VA
rs7124442 NC_000011.10:g.27655494C>T, NC_000011.9:g.27677041C>T, NG_011794.1:g.71564A=, NG_011794.1:g.71564A>G, NM_001143805.1:c.*2326A=, NM_001143805.1:c.*2326A>G, NM_001143806.1:c.*2326A=, NM_001143806.1:c.*2326A>G, NM_001143807.1:c.*2326A=, NM_001143807.1:c.*2326A>G, NM_001143808.1:c.*2326A=, NM_001143808.1:c.*2326A>G, NM_001143809.1:c.*2326A=, NM_001143809.1:c.*2326A>G, NM_001143810.1:c.*2326A=, NM_001143810.1:c.*2326A>G, NM_001143811.1:c.*2326A=, NM_001143811.1:c.*2326A>G, NM_001143812.1:c.*2326A=, NM_001143812.1:c.*2326A>G, NM_001143813.1:c.*2326A=, NM_001143813.1:c.*2326A>G, NM_001143814.1:c.*2326A=, NM_001143814.1:c.*2326A>G, NM_001143816.1:c.*2326A=, NM_001143816.1:c.*2326A>G, NM_001709.4:c.*2326A=, NM_001709.4:c.*2326A>G, NM_170731.4:c.*2326A=, NM_170731.4:c.*2326A>G, NM_170732.4:c.*2326A=, NM_170732.4:c.*2326A>G, NM_170733.3:c.*2326A=, NM_170733.3:c.*2326A>G, NM_170734.3:c.*2326A=, NM_170734.3:c.*2326A>G, NM_170735.5:c.*2326A=, NM_170735.5:c.*2326A>G, NR_002832.2:n.375-2747C>T, NR_033312.1:n.306-2747C>T, NR_033313.1:n.306-2747C>T, NR_033314.1:n.375-2747C>T, NR_033315.1:n.306-2747C>T, XM_005253060.1:c.*2327G>A, XM_011520280.1:c.*2327G>A, XR_242807.1:n.224-2744C>T, XR_242808.1:n.224-2747C>T, XR_242809.1:n.224-3677C>T
C > C
C > T
SNP
No VIP available CA VA
rs7569963 NC_000002.11:g.208473184G>A, NC_000002.12:g.207608460G>A, NM_001308021.1:c.259+13346C>T, XM_011510727.1:c.334+13346C>T, XM_011510728.1:c.334+13346C>T, XM_011510729.1:c.388+12181C>T, XM_011510730.1:c.259+13346C>T
G > A
SNP
No VIP available CA VA
rs760761 NC_000006.11:g.15651132G>A, NC_000006.12:g.15650901G>A, NG_009309.1:g.17140C>T, NM_001271667.1:c.-83+412C>T, NM_001271668.1:c.110+1186C>T, NM_001271669.1:c.56+11913C>T, NM_032122.4:c.161+412C>T, NM_183040.2:c.161+412C>T, NR_036448.1:n.489+412C>T, XM_005249447.1:c.122+412C>T, XM_005249447.3:c.122+412C>T, XM_011514936.1:c.71+1186C>T, rs58136591
G > A
SNP
No VIP available No Clinical Annotations available VA
rs776746 NC_000007.13:g.99270539C>T, NC_000007.14:g.99672916T>C, NG_007938.1:g.12083G=, NG_007938.1:g.12083G>A, NM_000777.4:c.219-237A>G, NM_000777.4:c.219-237G>A, NM_001190484.2:c.219-237A>G, NM_001190484.2:c.219-237G>A, NM_001291829.1:c.-253-1A>G, NM_001291829.1:c.-253-1G>A, NM_001291830.1:c.189-237A>G, NM_001291830.1:c.189-237G>A, NR_033807.2:n.717-1A>G, NR_033807.2:n.717-1G>A, NR_033808.1:n.689-1G>A, NR_033809.1:n.581-237G>A, NR_033810.1:n.689-1G>A, NR_033811.1:n.321-1G>A, NR_033812.1:n.321-1G>A, XM_005250169.1:c.189-237G>A, XM_005250170.1:c.-357-1G>A, XM_005250171.1:c.-253-1G>A, XM_005250172.1:c.-254G>A, XM_005250173.1:c.-331-237G>A, XM_005250198.1:c.806-4288C>T, XM_006715859.2:c.219-237A>G, XM_011515843.1:c.-254A>G, XM_011515844.1:c.-229-237A>G, XM_011515845.1:c.-463-1A>G, XM_011515846.1:c.-331-237A>G, XM_011515847.1:c.-571-1A>G, XR_927383.1:n.344-237A>G, XR_927402.1:n.1466+48736T>C, rs10361242, rs11266830, rs386613022, rs58244770
C > T
SNP
No VIP available CA VA
rs7787082 NC_000007.13:g.87157051G>A, NC_000007.14:g.87527735G>A, NG_011513.1:g.190514C>T, NM_000927.4:c.2685+3559C>T, rs10352064, rs17333784, rs56434207, rs56854239
G > A
SNP
No VIP available CA VA
rs7997012 NC_000013.10:g.47411985A>G, NC_000013.11:g.46837850A>G, NG_013011.1:g.64185T>C, NM_000621.4:c.614-2211T>C, NM_001165947.2:c.362-2211T>C, rs60567994
A > G
SNP
No VIP available CA VA
rs809736 NC_000015.10:g.61037589A>G, NC_000015.9:g.61329788A>G, NG_029246.1:g.196715T>C, NM_134261.2:c.166+191464T>C, XM_011521878.1:c.-328+191464T>C, rs59500220
A > G
SNP
No VIP available CA VA
rs915120 NC_000010.10:g.121190113T>C, NC_000010.11:g.119430601T>C, NM_005308.2:c.597+163T>C, XM_005269707.1:c.597+163T>C, XM_005269708.1:c.501+163T>C, XM_005269709.1:c.306+163T>C, XM_011539699.1:c.-34+163T>C, XM_011540450.1:c.-2936A>G, rs57517220
T > C
SNP
No VIP available No Clinical Annotations available VA
rs929493 NC_000010.10:g.119019126C>T, NC_000010.11:g.117259615C>T, NM_003054.4:c.991+1723C>T, rs59180434, rs60438643
C > T
SNP
No VIP available CA VA
rs9380524 NC_000006.11:g.35589070C>A, NC_000006.12:g.35621293C>A, NG_012645.2:g.112291G>T, NM_001145775.2:c.251-1019G>T, NM_001145776.1:c.251-1019G>T, NM_001145777.1:c.251-1019G>T, NM_004117.3:c.251-1019G>T
C > A
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Generic Names
  • Citalopram Hydrobromide
  • Citalopramum [INN-Latin]
Trade Names
  • Akarin
  • Celapram
  • Celexa
  • Celius
  • Ciazil
  • Cilift
  • Cipram
  • Cipramil
  • Ciprapine
  • Citabax
  • Citalec
  • Citol
  • Citopam
  • Citox
  • Citrol
  • Dalsan
  • Elopram
  • Humorup
  • Nitalapram
  • Oropram
  • Pramcit
  • Recital
  • Seropram
  • Talam
  • Talohexal
  • Temperax
  • Vodelax
  • Zentius
  • Zetalo
Brand Mixture Names

PharmGKB Accession Id

PA449015

Type(s):

Drug

Description

Citalopram hydrobromide belongs to a class of antidepressant agents known as selective serotonin-reuptake inhibitors (SSRIs). Despite distinct structural differences between compounds in this class, SSRIs possess similar pharmacological activity. As with other antidepressant agents, several weeks of therapy may be required before a clinical effect is seen. SSRIs are potent inhibitors of neuronal serotonin reuptake. They have little to no effect on norepinephrine or dopamine reuptake and do not antagonize alpha- or beta-adrenergic, dopamine D 2 or histamine H 1 receptors. During acute use, SSRIs block serotonin reuptake and increase serotonin stimulation of somatodendritic 5-HT 1A and terminal autoreceptors. Chronic use leads to desensitization of somatodendritic 5-HT 1A and terminal autoreceptors. The overall clinical effect of increased mood and decreased anxiety is thought to be due to adaptive changes in neuronal function that leads to enhanced serotonergic neurotransmission. Side effects include dry mouth, nausea, dizziness, drowsiness, sexual dysfunction and headache. Side effects generally occur within the first two weeks of therapy and are usually less severe and frequent than those observed with tricyclic antidepressants. Citalopram is approved for treatment of depression. Unlabeled indications include mild dementia-associated agitation in nonpsychotic patients, smoking cessation, ethanol abuse, obsessive-compulsive disorder (OCD) in children, and diabetic neuropathy. Citalopram has the fewest drug-drug interactions of the SSRIs.

Source: Drug Bank

Indication

For the treatment of depression. Unlabeled indications include: treatment of mild dementia-associated agitation in nonpsychotic patients, smoking cessation, ethanol abuse, obsessive-compulsive disorder (OCD) in children, and diabetic neuropathy.

Source: Drug Bank

Other Vocabularies

Information pulled from DrugBank has not been reviewed by PharmGKB.

Pharmacology, Interactions, and Contraindications

Mechanism of Action

The antidepressant, antiobsessive-compulsive, and antibulimic actions of citalopram are presumed to be linked to its inhibition of CNS neuronal uptake of serotonin. Citalopram blocks the reuptake of serotonin at the serotonin reuptake pump of the neuronal membrane, enhancing the actions of serotonin on 5HT 1A autoreceptors. SSRIs bind with significantly less affinity to histamine, acetylcholine, and norepinephrine receptors than tricyclic antidepressant drugs.

Source: Drug Bank

Pharmacology

Citalopram is one of a class of antidepressants known as selective serotonin reuptake inhibitors (SSRIs). It is used to treat the depression associated with mood disorders. It is also used on occassion in the treatment of body dysmorphic disorder and anxiety. The antidepressant, antiobsessive-compulsive, and antibulimic actions of citalopram are presumed to be linked to its inhibition of CNS neuronal uptake of serotonin. In vitro studies show that citalopram is a potent and selective inhibitor of neuronal serotonin reuptake and has only very weak effects on norepinephrine and dopamine neuronal reuptake. Citalopram has no significant affinity for adrenergic (alpha 1, alpha 2, beta), cholinergic, GABA, dopaminergic, histaminergic, serotonergic (5HT 1A, 5HT 1B, 5HT 2), or benzodiazepine receptors; antagonism of such receptors has been hypothesized to be associated with various anticholinergic, sedative, and cardiovascular effects for other psychotropic drugs. The chronic administration of citalopram was found to downregulate brain norepinephrine receptors, as has been observed with other drugs effective in the treatment of major depressive disorder. Citalopram does not inhibit monoamine oxidase.

Source: Drug Bank

Food Interaction

Avoid St.John's Wort.|Avoid alcohol.|Take without regard to meals.

Source: Drug Bank

Absorption, Distribution, Metabolism, Elimination & Toxicity

Biotransformation

Citalopram is metabolized mainly in the liver via N-demethylation to its principle metabolite, demethylcitalopram. Other metabolites include didemethylcitalopram, citalopram N-oxide, and a deaminated propionic acid derivative. Cytochrome P450 (CYP) 3A4 and 2C19 isozymes appear to be principally involved in producing demethylcitalopram. Demethylcitalopram appears to be further N-demethylated by CYP2D6 to didemethylcitalopram. Citalopram metabolites possess little pharmacologic activity in comparison to their parent compound and do not likely contribute to the clinical effect of the drug.

Source: Drug Bank

Protein Binding

80% based on in vitro studies.

Source: Drug Bank

Absorption

Rapidly and well absorbed from the GI tract. Peak plasma concentrations occur within 4 hours of a single orally administered dose. Bioavailability is 80% following oral administration. Food does not affect absorption.

Source: Drug Bank

Half-Life

35 hours

Source: Drug Bank

Toxicity

Symptoms most often accompanying citalopram overdose, alone or in combination with other drugs and/or alcohol, included dizziness, sweating, nausea, vomiting, tremor, somnolence, and sinus tachycardia. In more rare cases, observed symptoms included amnesia, confusion, coma, convulsions, hyperventilation, cyanosis, rhabdomyolysis, and ECG changes (including QTc prolongation, nodal rhythm, ventricular arrhythmia, and very rare cases of torsade de pointes). Acute renal failure has been very rarely reported accompanying overdose. Withdrawal symptoms include flu-like symptoms, insomnia, nausea, imbalance, sensory changes and hyperactivity.

Source: Drug Bank

Route of Elimination

The systemic clearance of citalopram was 330 mL/min, with approximately 20% of that due to renal clearance. Citalopram is metabolized to demethylcitalopram (DCT), didemethylcitalopram (DDCT), citalopram-_N_-oxide, and a deaminated propionic acid derivative.

Source: Drug Bank

Volume of Distribution

  • 12 L/kg
    Citalopram is highly lipophilic and likely widely distributed throughout the body.

Source: Drug Bank

Chemical Properties

Chemical Formula

C20H21FN2O

Source: Drug Bank

Isomeric SMILES

CN(C)CCCC1(c2ccc(cc2CO1)C#N)c3ccc(cc3)F

Source: OpenEye

Canonical SMILES

CN(C)CCCC1(OCC2=C1C=CC(=C2)C#N)C1=CC=C(F)C=C1

Source: Drug Bank

Average Molecular Weight

324.3919

Source: Drug Bank

Monoisotopic Molecular Weight

324.163791509

Source: Drug Bank

SMILES

CN(C)CCCC1(OCC2=C1C=CC(=C2)C#N)C1=CC=C(F)C=C1

Source: Drug Bank

InChI String

InChI=1S/C20H21FN2O/c1-23(2)11-3-10-20(17-5-7-18(21)8-6-17)19-9-4-15(13-22)12-16(19)14-24-20/h4-9,12H,3,10-11,14H2,1-2H3

Source: Drug Bank

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

  1. Citalopram Pathway, Pharmacokinetics
    Pharmacokinetics of the selective serotonin reuptake inhibitor citalopram.
  1. Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics
    Genes involved in serotonin synthesis, release, reuptake, and in mediation of the antidepressant effect of selective serotonin reuptake inhibitors (SSRI) in human brain.

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 ?

Drug Targets

Gene Description
SLC6A4 (source: Drug Bank )

Drug Interactions

Interaction Description
almotriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
almotriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
carvedilol - citalopram The SSRI increases the effect of the beta-blocker (source: Drug Bank )
carvedilol - citalopram The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, carvedilol. (source: Drug Bank )
citalopram - acenocoumarol The SSRI increases the effect of anticoagulant (source: Drug Bank )
citalopram - acenocoumarol The SSRI, citalopram, increases the effect of anticoagulant, acenocoumarol. (source: Drug Bank )
citalopram - almotriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - almotriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - anisindione The SSRI, citalopram, increases the effect of anticoagulant, anisindione. (source: Drug Bank )
citalopram - carvedilol The SSRI increases the effect of the beta-blocker (source: Drug Bank )
citalopram - carvedilol The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, carvedilol. (source: Drug Bank )
citalopram - clarithromycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - clarithromycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - clozapine The antidepressant increases the effect of clozapine (source: Drug Bank )
citalopram - clozapine The antidepressant increases the effect of clozapine (source: Drug Bank )
citalopram - dicumarol The SSRI increases the effect of anticoagulant (source: Drug Bank )
citalopram - dicumarol The SSRI, citalopram, increases the effect of anticoagulant, dicumarol. (source: Drug Bank )
citalopram - eletriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - eletriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - erythromycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - erythromycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - frovatriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - isocarboxazid Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - isocarboxazid Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - josamycin Possible serotoninergic sydrome with this combination (source: Drug Bank )
citalopram - linezolid Combination associated with possible serotoninergic syndrome (source: Drug Bank )
citalopram - linezolid Combination associated with possible serotoninergic syndrome (source: Drug Bank )
citalopram - metoprolol The SSRI increases the effect of the beta-blocker (source: Drug Bank )
citalopram - metoprolol The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, metoprolol. (source: Drug Bank )
citalopram - moclobemide Possible serotoninergic syndrome (source: Drug Bank )
citalopram - moclobemide Possible serotoninergic syndrome (source: Drug Bank )
citalopram - naratriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - naratriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - oxycodone Increased risk of serotonin syndrome (source: Drug Bank )
citalopram - oxycodone Increased risk of serotonin syndrome (source: Drug Bank )
citalopram - phenelzine Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - phenelzine Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - pimozide This SSRI increases the effect and toxicity of pimozide (source: Drug Bank )
citalopram - pimozide This SSRI, citalopram, increases the effect and toxicity of pimozide. (source: Drug Bank )
citalopram - propranolol This SSRI increases the effect of the beta-blocker (source: Drug Bank )
citalopram - propranolol The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, propranolol. (source: Drug Bank )
citalopram - rasagiline Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - rizatriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - rizatriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - selegiline Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - selegiline Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - sibutramine Risk of serotoninergic syndrome (source: Drug Bank )
citalopram - sibutramine Risk of serotoninergic syndrome (source: Drug Bank )
citalopram - sumatriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - sumatriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - tramadol Increased risk of serotonin syndrome (source: Drug Bank )
citalopram - tramadol Increased risk of serotonin syndrome (source: Drug Bank )
citalopram - tranylcypromine Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - tranylcypromine Possible severe adverse reaction with this combination (source: Drug Bank )
citalopram - troleandomycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - troleandomycin Possible serotoninergic syndrome with this combination (source: Drug Bank )
citalopram - warfarin The SSRI increases the effect of anticoagulant (source: Drug Bank )
citalopram - warfarin The SSRI, citalopram, increases the effect of anticoagulant, warfarin. (source: Drug Bank )
citalopram - zolmitriptan Increased risk of CNS adverse effects (source: Drug Bank )
citalopram - zolmitriptan Increased risk of CNS adverse effects (source: Drug Bank )
clarithromycin - citalopram Possible serotoninergic syndrome with this combination (source: Drug Bank )
clarithromycin - citalopram Possible serotoninergic syndrome with this combination (source: Drug Bank )
clozapine - citalopram The antidepressant increases the effect of clozapine (source: Drug Bank )
clozapine - citalopram The antidepressant increases the effect of clozapine (source: Drug Bank )
eletriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
eletriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
erythromycin - citalopram Possible serotoninergic syndrome with this combination (source: Drug Bank )
erythromycin - citalopram Possible serotoninergic syndrome with this combination (source: Drug Bank )
frovatriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
ginkgo biloba - citalopram Additive anticoagulant/antiplatelet effects may increase bleed risk. Concomitant therapy should be avoided. (source: Drug Bank )
isocarboxazid - citalopram Possible severe adverse reaction with this combination (source: Drug Bank )
isocarboxazid - citalopram Possible severe adverse reaction with this combination (source: Drug Bank )
ketoprofen - citalopram Concomitant therapy may result in additive antiplatelet effects and increase the risk of bleeding. Monitor for increased risk of bleeding during concomitant therapy. (source: Drug Bank )
linezolid - citalopram Combination associated with possible serotoninergic syndrome (source: Drug Bank )
linezolid - citalopram Combination associated with possible serotoninergic syndrome (source: Drug Bank )
metoprolol - citalopram The SSRI increases the effect of the beta-blocker (source: Drug Bank )
metoprolol - citalopram The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, metoprolol. (source: Drug Bank )
moclobemide - citalopram Possible serotoninergic syndrome (source: Drug Bank )
moclobemide - citalopram Possible serotoninergic syndrome (source: Drug Bank )
naratriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
naratriptan - citalopram Increased risk of CNS adverse effects (source: Drug Bank )
oxycodone - citalopram Increased risk of serotonin syndrome (source: Drug Bank )
oxycodone - citalopram Increased risk of serotonin syndrome (source: Drug Bank )
phenelzine - citalopram Possible severe adverse reaction with this combination (source: Drug Bank )
phenelzine - citalopram Possible severe adverse reaction with this combination (source: Drug Bank )
pimozide - citalopram The SSRI increases the effect and toxicity of pimozide (source: Drug Bank )
pimozide - citalopram The SSRI, citalopram, increases the effect and toxicity of pimozide. (source: Drug Bank )
propranolol - citalopram The SSRI increases the effect of the beta-blocker (source: Drug Bank )
propranolol - citalopram The SSRI, citalopram, may increase the bradycardic effect of the beta-blocker, propranolol. (source: Drug Bank )
rasagiline - citalopram Possible severe adverse reaction with this combination (source: Drug Bank )
telithromycin - citalopram Telithromycin may reduce clearance of Citalopram. Consider alternate therapy or monitor for changes in the therapeutic/adverse effects of Citalopram if Telithromycin is initiated, discontinued or dose changed. (source: Drug Bank )
tiaprofenic acid - citalopram Additive antiplatelet effects increase the risk of bleeding. Consider alternate therapy or monitor for increased bleeding. (source: Drug Bank )
ticlopidine - citalopram Ticlopidine may decrease the metabolism and clearance of Citalopram. Consider alternate therapy or monitor for adverse/toxic effects of Citalopram if Ticlopidine is initiated, discontinued or dose changed. (source: Drug Bank )
tolmetin - citalopram Increased antiplatelet effects may enhance the risk of bleeding. Alternate therapy may be considered or monitor for inreased bleeding during concomitant therapy. (source: Drug Bank )
tramadol - citalopram Tramadol increases the risk of serotonin syndrome and seizures. (source: Drug Bank )
tranylcypromine - citalopram Increased risk of serotonin syndrome. Concomitant therapy should be avoided. A significant washout period, dependent on the half-lives of the agents, should be employed between therapies. (source: Drug Bank )
trazodone - citalopram Increased risk of serotonin syndrome. Monitor for symptoms of serotonin syndrome. (source: Drug Bank )
trazodone - citalopram Increased risk of serotonin syndrome. Monitor for symptoms of serotonin syndrome. (source: Drug Bank )
treprostinil - citalopram The prostacyclin analogue, Treprostinil, increases the risk of bleeding when combined with the antiplatelet agent, Citalopram. Monitor for increased bleeding during concomitant thearpy. (source: Drug Bank )
trimipramine - citalopram The SSRI, Citalopram, may decrease the metabolism and clearance of Trimipramine. Increased risk of serotonin syndrome. Monitor for changes in Trimipramine efficacy and toxicity if Citalopram is initiated, discontinued or dose changed. (source: Drug Bank )
triprolidine - citalopram The CNS depressants, Triprolidine and Citalopram, may increase adverse/toxic effects due to additivity. Monitor for increased CNS depressant effects during concomitant therapy. (source: Drug Bank )
triprolidine - citalopram The CNS depressants, Triprolidine and Citalopram, may increase adverse/toxic effects due to additivity. Monitor for increased CNS depressant effects during concomitant therapy. (source: Drug Bank )
venlafaxine - citalopram Increased risk of serotonin syndrome. Monitor for symptoms of serotonin syndrome. (source: Drug Bank )
voriconazole - citalopram Voriconazole, a strong CYP3A4 inhibitor, may increase the serum concentration of citalopram by decreasing its metabolism. Monitor for changes in the therapeutic and adverse effects of citalopram if voriconazole is initiated, discontinued or dose changed. (source: Drug Bank )
ziprasidone - citalopram Additive QTc-prolongation may occur increasing the risk of life-threatening ventricular arrhythmias and torsade de pointes. Concomitant therapy should be avoided. (source: Drug Bank )
zolmitriptan - citalopram Use of two serotonin modulators, such as zolmitriptan and citalopram, increases the risk of serotonin syndrome. Consider alternate therapy or monitor for serotonin syndrome during concomitant therapy. (source: Drug Bank )
zuclopenthixol - citalopram Additive QTc prolongation may occur. Consider alternate therapy or use caution and monitor for QTc prolongation as this can lead to Torsade de Pointes (TdP). (source: Drug Bank )

Curated Information ?

Relationships from National Drug File - Reference Terminology (NDF-RT)

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Publications related to citalopram: 133

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Pharmacogenetics of citalopram-related side effects in children with depression and/or anxiety disorders. Journal of neural transmission (Vienna, Austria : 1996). 2016. Amitai Maya, et al. PubMed
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R-and S-citalopram concentrations have differential effects on neuropsychiatric scores in elders with dementia and agitation. British journal of clinical pharmacology. 2016. Ho T, et al. PubMed
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Effect of CYP2D6 genetic polymorphism on the metabolism of citalopram in vitro. Drug metabolism and pharmacokinetics. 2016. Hu Xiao-Xia, et al. PubMed
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TSPAN5, ERICH3 and selective serotonin reuptake inhibitors in major depressive disorder: pharmacometabolomics-informed pharmacogenomics. Molecular psychiatry. 2016. Gupta M, et al. PubMed
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The impact of CYP2C19 polymorphisms on citalopram metabolism in patients with major depressive disorder. Journal of clinical pharmacy and therapeutics. 2015. Uckun Z, et al. PubMed
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Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. Clinical pharmacology and therapeutics. 2015. Hicks J Kevin, et al. PubMed
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Genome-wide association studies in pharmacogenomics of antidepressants. Pharmacogenomics. 2015. Lin Eugene, et al. PubMed
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Impact of Cytochrome P450 2C19 Polymorphisms on Citalopram/Escitalopram Exposure: A Systematic Review and Meta-Analysis. Clinical pharmacokinetics. 2014. Chang Ming, et al. PubMed
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Impact of age on serum concentrations of venlafaxine and escitalopram in different CYP2D6 and CYP2C19 genotype subgroups. European journal of clinical pharmacology. 2014. Waade Ragnhild Birkeland, et al. PubMed
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CYP2C19 variation, not citalopram dose nor serum level, is associated with QTc prolongation. Journal of psychopharmacology (Oxford, England). 2014. Kumar Yingying, et al. PubMed
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The genetics of pro-arrhythmic adverse drug reactions. British journal of clinical pharmacology. 2014. Petropoulou Evmorfia, et al. PubMed
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Treatment Outcomes of Depression: The Pharmacogenomic Research Network Antidepressant Medication Pharmacogenomic Study. Journal of clinical psychopharmacology. 2014. Mrazek David A, et al. PubMed
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Genomewide interaction and enrichment analysis on antidepressant response. Psychological medicine. 2014. Antypa N, et al. PubMed
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Citalopram and Escitalopram Plasma Drug and Metabolite Concentrations: Genome-Wide Associations. British journal of clinical pharmacology. 2014. Ji Yuan, et al. PubMed
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Genetic differences in cytochrome P450 enzymes and antidepressant treatment response. Journal of psychopharmacology (Oxford, England). 2013. Hodgson Karen, et al. PubMed
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ABCB6, ABCB1 and ABCG1 genetic polymorphisms and antidepressant response of SSRIs in Chinese depressive patients. Pharmacogenomics. 2013. Huang Xiaoye, et al. PubMed
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Pharmacogenetic polymorphisms and response to escitalopram and venlafaxine over 8 weeks in major depression. Human psychopharmacology. 2013. Ng Chee, et al. PubMed
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No influence of brain-derived neurotrophic factor (BDNF) polymorphisms on treatment response in a naturalistic sample of patients with major depression. European archives of psychiatry and clinical neuroscience. 2013. Musil Richard, et al. PubMed
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Estimation of CYP2D6*10 genotypes on citalopram disposition in Chinese subjects by population pharmacokinetic assay. Journal of clinical pharmacy and therapeutics. 2013. Chen B, et al. PubMed
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SLC6A4 Polymorphisms and Age of Onset in Late-life Depression on Treatment Outcomes with Citalopram: A Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Report. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry. 2013. Shiroma Paulo R, et al. PubMed
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BDNF and CREB1 genetic variants interact to affect antidepressant treatment outcomes in geriatric depression. Pharmacogenetics and genomics. 2013. Murphy Greer M, et al. PubMed
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Challenges in pharmacogenetics. European journal of clinical pharmacology. 2013. Cascorbi Ingolf, et al. PubMed
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Pharmacogenetics in major depression: a comprehensive meta-analysis. Progress in neuro-psychopharmacology & biological psychiatry. 2013. Niitsu Tomihisa, et al. PubMed
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Citalopram and cardiac toxicity. European journal of clinical pharmacology. 2013. Cooke M J, et al. PubMed
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Influence of CYP2D6 and CYP2C19 gene variants on antidepressant response in obsessive-compulsive disorder. The pharmacogenomics journal. 2013. Brandl E J, et al. PubMed
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Additive effects of 5-HTTLPR (serotonin transporter) and tryptophan hydroxylase 2 G-703T gene polymorphisms on the clinical response to citalopram among children and adolescents with depression and anxiety disorders. Journal of child and adolescent psychopharmacology. 2013. Rotberg Benyamin, et al. PubMed
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Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. The American journal of psychiatry. 2013. GENDEP Investigators, et al. PubMed
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FKBP5 genetic variation: association with selective serotonin reuptake inhibitor treatment outcomes in major depressive disorder. Pharmacogenetics and genomics. 2013. Ellsworth Katarzyna A, et al. PubMed
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Cytochrome P450-mediated drug metabolism in the brain. Journal of psychiatry & neuroscience : JPN. 2012. Miksys Sharon, et al. PubMed
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TPH1, MAOA, serotonin receptor 2A and 2C genes in citalopram response: possible effect in melancholic and psychotic depression. Neuropsychobiology. 2013. Arias Bárbara, et al. PubMed
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Multiple Regulatory Variants Modulate Expression of 5-Hydroxytryptamine 2A Receptors in Human Cortex. Biological psychiatry. 2012. Smith Ryan M, et al. PubMed
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Association of APC and REEP5 gene polymorphisms with major depression disorder and treatment response to antidepressants in a Han Chinese population. General hospital psychiatry. 2012. Yang Zhenxing, et al. PubMed
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Citalopram, QTc interval prolongation, and torsade de pointes. How should we apply the recent FDA ruling?. The American journal of medicine. 2012. Vieweg W Victor R, et al. PubMed
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Citalopram (Celexa) and QT interval prolongation. The Medical letter on drugs and therapeutics. 2012. PubMed
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The AmpliChip® CYP450 test and response to treatment in schizophrenia and obsessive compulsive disorder: a pilot study and focus on cases with abnormal CYP2D6 drug metabolism. Genetic testing and molecular biomarkers. 2012. Müller Daniel J, et al. PubMed
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Pharmacogenomics of selective serotonin reuptake inhibitor treatment for major depressive disorder: genome-wide associations and functional genomics. The pharmacogenomics journal. 2012. Ji Y, et al. PubMed
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ABCB1 gene variants influence tolerance to selective serotonin reuptake inhibitors in a large sample of Dutch cases with major depressive disorder. The pharmacogenomics journal. 2012. de Klerk O L, et al. PubMed
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Pharmacogenetics of glutamate system genes and SSRI-associated sexual dysfunction. Psychiatry research. 2012. Bishop Jeffrey R, et al. PubMed
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CYP2C19 genotype predicts steady state escitalopram concentration in GENDEP. Journal of psychopharmacology (Oxford, England). 2012. Huezo-Diaz Patricia, et al. PubMed
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Genome-wide pharmacogenomic study of citalopram-induced side effects in STAR*D. Translational psychiatry. 2012. Adkins D E, et al. PubMed
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PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19. Pharmacogenetics and genomics. 2011. Scott Stuart A, et al. PubMed
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Interaction between two HTR2A polymorphisms and gender is associated with treatment response in MDD. Neuroscience letters. 2011. Viikki Merja, et al. PubMed
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The brain-derived neurotrophic factor (BDNF) polymorphism Val66Met is associated with neither serum BDNF level nor response to selective serotonin reuptake inhibitors in depressed Japanese patients. Progress in neuro-psychopharmacology & biological psychiatry. 2011. Yoshimura Reiji, et al. PubMed
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PharmGKB summary: citalopram pharmacokinetics pathway. Pharmacogenetics and genomics. 2011. Sangkuhl Katrin, et al. PubMed
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Pharmacogenetics: From Bench to Byte- An Update of Guidelines. Clinical pharmacology and therapeutics. 2011. Swen J J, et al. PubMed
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Is 5-HTTLPR linked to the response of selective serotonin reuptake inhibitors in MDD?. European archives of psychiatry and clinical neuroscience. 2011. Illi Ari, et al. PubMed
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Very important pharmacogene summary: ABCB1 (MDR1, P-glycoprotein). Pharmacogenetics and genomics. 2011. Hodges Laura M, et al. PubMed
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Clinical and genetic correlates of suicidal ideation during antidepressant treatment in a depressed outpatient sample. Pharmacogenomics. 2011. Perroud Nader, et al. PubMed
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Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. Clinical pharmacology and therapeutics. 2011. Ji Y, et al. PubMed
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CYP2C19 variation and citalopram response. Pharmacogenetics and genomics. 2011. Mrazek David A, et al. PubMed
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Meta-analysis of FKBP5 gene polymorphisms association with treatment response in patients with mood disorders. Neuroscience letters. 2010. Zou Yan-Feng, et al. PubMed
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HTR2A is associated with SSRI response in Major Depressive Disorder in a Japanese cohort. Neuromolecular medicine. 2010. Kishi Taro, et al. PubMed
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Pharmacogenomic implications of variants of monoaminergic-related genes in geriatric psychiatry. Pharmacogenomics. 2010. Shiroma Paulo R, et al. PubMed
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Catechol O-methyltransferase pharmacogenomics and selective serotonin reuptake inhibitor response. The pharmacogenomics journal. 2010. Ji Y, et al. PubMed
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5HT1A and 5HT2A receptor genes in treatment response phenotypes in major depressive disorder. International clinical psychopharmacology. 2010. Noro Magali, et al. PubMed
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A preliminary investigation of the influence of CREB1 gene on treatment resistance in major depression. Journal of affective disorders. 2010. Serretti Alessandro, et al. PubMed
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Coprescription of tamoxifen and medications that inhibit CYP2D6. Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 2010. Sideras Kostandinos, et al. PubMed
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Association between CYP2C19*17 and metabolism of amitriptyline, citalopram and clomipramine in Dutch hospitalized patients. The pharmacogenomics journal. 2010. de Vos A, et al. PubMed
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Phenotypic effects of a bipolar liability gene among individuals with major depressive disorder. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2010. Casamassima Francesco, et al. PubMed
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A genomewide association study of citalopram response in major depressive disorder. Biological psychiatry. 2010. Garriock Holly A, et al. PubMed
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Evaluation of the influence of sex and CYP2C19 and CYP2D6 polymorphisms in the disposition of citalopram. European journal of pharmacology. 2010. Fudio Salvador, et al. PubMed
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Serotonin transporter triallelic genotype and response to citalopram and risperidone in dementia with behavioral symptoms. International clinical psychopharmacology. 2010. Dombrovski Alexandre Y, et al. PubMed
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Effect of age, weight, and CYP2C19 genotype on escitalopram exposure. Journal of clinical pharmacology. 2010. Jin Yuyan, et al. PubMed
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Polymorphisms in GRIK4, HTR2A, and FKBP5 show interactive effects in predicting remission to antidepressant treatment. Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology. 2010. Horstmann Sonja, et al. PubMed
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Association of Mu-Opioid Receptor Variants and Response to Citalopram Treatment in Major Depressive Disorder. The American journal of psychiatry. 2010. Garriock Holly A, et al. PubMed
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Brain-derived neurotrophic factor ( BDNF) gene: no major impact on antidepressant treatment response. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). 2010. Domschke Katharina, et al. PubMed
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Genetic variation in HTR2A influences serotonin transporter binding potential as measured using PET and [11C]DASB. The international journal of neuropsychopharmacology / official scientific journal of the Collegium Internationale Neuropsychopharmacologicum (CINP). 2010. Laje Gonzalo, et al. PubMed
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Nationwide drug-dispensing data reveal important differences in adherence to drug label recommendations on CYP2D6-dependent drug interactions. British journal of clinical pharmacology. 2010. Mannheimer Buster, et al. PubMed
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Composite functional genetic and comedication CYP2D6 activity score in predicting tamoxifen drug exposure among breast cancer patients. Journal of clinical pharmacology. 2010. Borges Silvana, et al. PubMed
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Genetic polymorphisms of cytochrome P450 enzymes influence metabolism of the antidepressant escitalopram and treatment response. Pharmacogenomics. 2010. Tsai Ming-Hsien, et al. PubMed
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Pharmacogenomics of membrane transporters: past, present and future. Pharmacogenomics. 2010. Yee Sook Wah, et al. PubMed
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FKBP5 polymorphisms and antidepressant response in geriatric depression. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2010. Sarginson Jane E, et al. PubMed
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Human lymphoblastoid cell line panels: novel tools for assessing shared drug pathways. Pharmacogenomics. 2010. Morag Ayelet, et al. PubMed
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Selective serotonin reuptake inhibitors and breast cancer mortality in women receiving tamoxifen: a population based cohort study. BMJ (Clinical research ed.). 2010. Kelly Catherine M, et al. PubMed
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Association of brain-derived neurotrophic factor genetic Val66Met polymorphism with severity of depression, efficacy of fluoxetine and its side effects in Chinese major depressive patients. Neuropsychobiology. 2010. Zou Yan-Feng, et al. PubMed
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Cytochrome P450 CYP1A2, CYP2C9, CYP2C19 and CYP2D6 genes are not associated with response and remission in a sample of depressive patients. International clinical psychopharmacology. 2009. Serretti Alessandro, et al. PubMed
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A highly annotated whole-genome sequence of a Korean individual. Nature. 2009. Kim Jong-Il, et al. PubMed
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Expression and association analyses of promoter variants of the neurogenic gene HES6, a candidate gene for mood disorder susceptibility and antidepressant response. Neuroscience letters. 2009. Glubb Dylan M, et al. PubMed
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Monoamine transporter gene polymorphisms affect susceptibility to depression and predict antidepressant response. Psychopharmacology. 2009. Min Wenjiao, et al. PubMed
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Cytochrome P450 2D6. Pharmacogenetics and genomics. 2009. Owen Ryan P, et al. PubMed
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Pharmacogenetics of selective serotonin reuptake inhibitors and associated adverse drug reactions. Pharmacotherapy. 2009. Thomas Kelan L H, et al. PubMed
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SLC6A4 variation and citalopram response. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2009. Mrazek D A, et al. PubMed
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Identification of a novel CYP2C19-mediated metabolic pathway of S-citalopram in vitro. Drug metabolism and disposition: the biological fate of chemicals. 2009. Rudberg I, et al. PubMed
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Impact of CYP2C19 phenotypes on escitalopram metabolism and an evaluation of pupillometry as a serotonergic biomarker. European journal of clinical pharmacology. 2009. Noehr-Jensen L, et al. PubMed
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MAO-A and COMT genotypes as possible regulators of perinatal serotonergic symptoms after in utero exposure to SSRIs. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology. 2009. Hilli Johanna, et al. PubMed
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5-HTR1A, 5-HTR2A, 5-HTR6, TPH1 and TPH2 polymorphisms and major depression. Neuroreport. 2009. Illi Ari, et al. PubMed
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Dysbindin gene (DTNBP1) in major depression: association with clinical response to selective serotonin reuptake inhibitors. Pharmacogenetics and genomics. 2009. Arias Bárbara, et al. PubMed
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Genome-wide association study of suicidal ideation emerging during citalopram treatment of depressed outpatients. Pharmacogenetics and genomics. 2009. Laje Gonzalo, et al. PubMed
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Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response. Pharmacogenetics and genomics. 2009. Peters Eric J, et al. PubMed
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Tryptophan hydroxylase 2 gene is associated with major depression and antidepressant treatment response. Progress in neuro-psychopharmacology & biological psychiatry. 2009. Tsai Shih-Jen, et al. PubMed
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SSRI response in depression may be influenced by SNPs in HTR1B and HTR1A. Psychiatric genetics. 2009. Villafuerte Sandra M, et al. PubMed
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Association of a functional polymorphism in the adrenomedullin gene (ADM) with response to paroxetine. The pharmacogenomics journal. 2009. Glubb D M, et al. PubMed
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Polymorphisms in the SLC6A4 and HTR2A genes influence treatment outcome following antidepressant therapy. The pharmacogenomics journal. 2009. Wilkie M J V, et al. PubMed
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Functional pharmacogenetics/genomics of human cytochromes P450 involved in drug biotransformation. Analytical and bioanalytical chemistry. 2008. Zanger Ulrich M, et al. PubMed
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Pharmacogenetics of selective serotonin reuptake inhibitors in pediatric depression and anxiety. Pharmacogenomics. 2008. Kronenberg Sefi, et al. PubMed
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The FKBP5-gene in depression and treatment response--an association study in the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) Cohort. Biological psychiatry. 2008. Lekman Magnus, et al. PubMed
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Impact of the ultrarapid CYP2C19*17 allele on serum concentration of escitalopram in psychiatric patients. Clinical pharmacology and therapeutics. 2008. Rudberg I, et al. PubMed
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Kinetics of omeprazole and escitalopram in relation to the CYP2C19*17 allele in healthy subjects. European journal of clinical pharmacology. 2008. Ohlsson Rosenborg Staffan, et al. PubMed
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Plasminogen activator inhibitor-1 gene is associated with major depression and antidepressant treatment response. Pharmacogenetics and genomics. 2008. Tsai Shih-Jen, et al. PubMed
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Genetic variants in FKBP5 affecting response to antidepressant drug treatment. Pharmacogenomics. 2008. Kirchheiner Julia, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Variation in the genes encoding vesicular monoamine transporter 2 and beta-1 adrenergic receptor and antidepressant treatment outcome. Psychiatric genetics. 2008. Crowley James J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Glycogen synthase kinase-3beta gene is associated with antidepressant treatment response in Chinese major depressive disorder. The pharmacogenomics journal. 2008. Tsai S-J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Influence of the CYP2D6*4 polymorphism on dose, switching and discontinuation of antidepressants. British journal of clinical pharmacology. 2008. Bijl Monique J, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Polymorphisms in the drug transporter gene ABCB1 predict antidepressant treatment response in depression. Neuron. 2008. Uhr Manfred, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Citalopram enantiomers in plasma and cerebrospinal fluid of ABCB1 genotyped depressive patients and clinical response: a pilot study. Pharmacological research : the official journal of the Italian Pharmacological Society. 2008. Nikisch Georg, et al. PubMed
No Dosing Guideline available No Drug Label available CA VA No VIP available No VIP available
Pharmacokinetic genes do not influence response or tolerance to citalopram in the STAR*D sample. PloS one. 2008. Peters Eric J, et al. PubMed
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Association between a functional serotonin transporter promoter polymorphism and citalopram treatment in adult outpatients with major depression. Archives of general psychiatry. 2007. Hu Xian-Zhang, et al. PubMed
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Association between treatment-emergent suicidal ideation with citalopram and polymorphisms near cyclic adenosine monophosphate response element binding protein in the STAR*D study. Archives of general psychiatry. 2007. Perlis Roy H, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Clinical response and risk for reported suicidal ideation and suicide attempts in pediatric antidepressant treatment: a meta-analysis of randomized controlled trials. JAMA : the journal of the American Medical Association. 2007. Bridge Jeffrey A, et al. PubMed
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Genetic variability at HPA axis in major depression and clinical response to antidepressant treatment. Journal of affective disorders. 2007. Papiol Sergi, et al. PubMed
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Association of GRIK4 with outcome of antidepressant treatment in the STAR*D cohort. The American journal of psychiatry. 2007. Paddock Silvia, et al. PubMed
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Genetic markers of suicidal ideation emerging during citalopram treatment of major depression. The American journal of psychiatry. 2007. Laje Gonzalo, et al. PubMed
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Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment. American journal of human genetics. 2006. McMahon Francis J, et al. PubMed
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Phenotype-genotype relationship and clinical effects of citalopram in Chinese patients. Journal of clinical psychopharmacology. 2006. Yin Ophelia Q P, et al. PubMed
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Serotonin transporter polymorphisms and side effects in antidepressant therapy--a pilot study. Pharmacogenomics. 2006. Popp Johannes, et al. PubMed
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Heterozygous mutation in CYP2C19 significantly increases the concentration/dose ratio of racemic citalopram and escitalopram (S-citalopram). Therapeutic drug monitoring. 2006. Rudberg Ida, et al. PubMed
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Evidence for a combined genetic effect of the 5-HT(1A) receptor and serotonin transporter genes in the clinical outcome of major depressive patients treated with citalopram. Journal of psychopharmacology (Oxford, England). 2005. Arias Bárbara, et al. PubMed
No Dosing Guideline available No Drug Label available CA No Variant Annotation available No VIP available No VIP available
Polymorphisms in FKBP5 are associated with increased recurrence of depressive episodes and rapid response to antidepressant treatment. Nature genetics. 2004. Binder Elisabeth B, et al. PubMed
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Impact of polymorphisms of cytochrome-P450 isoenzymes 2C9, 2C19 and 2D6 on plasma concentrations and clinical effects of antidepressants in a naturalistic clinical setting. European journal of clinical pharmacology. 2004. Grasmäder Katja, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Breastfeeding during maternal antidepressant treatment with serotonin reuptake inhibitors: infant exposure, clinical symptoms, and cytochrome p450 genotypes. The Journal of clinical psychiatry. 2004. Berle Jan Øystein, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Increased incidence of CYP2D6 gene duplication in patients with persistent mood disorders: ultrarapid metabolism of antidepressants as a cause of nonresponse. A pilot study. European journal of clinical pharmacology. 2004. Kawanishi Chiaki, et al. PubMed
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Some aspects of genetic polymorphism in the biotransformation of antidepressants. Thérapie. 2004. Brøsen Kim. PubMed
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Metabolism of citalopram enantiomers in CYP2C19/CYP2D6 phenotyped panels of healthy Swedes. British journal of clinical pharmacology. 2003. Herrlin Karin, et al. PubMed
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Pharmacokinetics of citalopram in relation to genetic polymorphism of CYP2C19. Drug metabolism and disposition: the biological fate of chemicals. 2003. Yu Bang-Ning, et al. PubMed
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5-HTTLPR polymorphism of the serotonin transporter gene predicts non-remission in major depression patients treated with citalopram in a 12-weeks follow up study. Journal of clinical psychopharmacology. 2003. Arias Bárbara, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Regeneration of serotonin from 5-methoxytryptamine by polymorphic human CYP2D6. Pharmacogenetics. 2003. Yu Ai-Ming, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
In vitro biotransformation of the selective serotonin reuptake inhibitor citalopram, its enantiomers and demethylated metabolites by monoamine oxidase in rat and human brain preparations. Molecular psychiatry. 2002. Kosel M, et al. PubMed
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Enantioselective analysis of citalopram and metabolites in adolescents. Therapeutic drug monitoring. 2001. Carlsson B, et al. PubMed
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Is therapeutic drug monitoring a case for optimizing clinical outcome and avoiding interactions of the selective serotonin reuptake inhibitors?. Therapeutic drug monitoring. 2000. Rasmussen B B, et al. PubMed
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Identification of three cytochrome P450 isozymes involved in N-demethylation of citalopram enantiomers in human liver microsomes. Pharmacogenetics. 1997. Rochat B, et al. PubMed
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Pharmacokinetic-pharmacodynamic relationship of the selective serotonin reuptake inhibitors. Clinical pharmacokinetics. 1996. Baumann P. PubMed
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A double-blind, placebo-controlled study of citalopram with and without lithium in the treatment of therapy-resistant depressive patients: a clinical, pharmacokinetic, and pharmacogenetic investigation. Journal of clinical psychopharmacology. 1996. Baumann P, et al. PubMed
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Pharmacokinetics of citalopram in relation to the sparteine and the mephenytoin oxidation polymorphisms. Therapeutic drug monitoring. 1993. Sindrup S H, et al. PubMed

LinkOuts

Web Resource:
Wikipedia
National Drug Code Directory:
0378-6231-01
DrugBank:
DB00215
ChEBI:
3723
KEGG Compound:
C07572
KEGG Drug:
D07704
PubChem Compound:
2771
PubChem Substance:
183529
46508746
Drugs Product Database (DPD):
2248051
BindingDB:
25870
ChemSpider:
2669
Therapeutic Targets Database:
DAP000118
FDA Drug Label at DailyMed:
825c0c49-5fbf-6d8b-cb8c-94ebf0eda043

Clinical Trials

These are trials that mention citalopram and are related to either pharmacogenetics or pharmacogenomics.

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NURSA Datasets

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No NURSA datasets available.

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Sources for PharmGKB drug information: DrugBank, PubChem.