Have questions? Visit https://www.reddit.com/r/SNPedia

rs4986893

From SNPedia

Clopidogrel (Plavix®)
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.1 poor metabolizer of several commonly prescribed drugs
(A;G) 2 carrier of a CYP2C19*3 allele, a "slow metabolizer" allele
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome10
Position94780653
GeneCYP2C19
is asnp
is mentioned by
dbSNPrs4986893
ebirs4986893
HLIrs4986893
Exacrs4986893
Varsomers4986893
Maprs4986893
PheGenIrs4986893
hapmaprs4986893
1000 genomesrs4986893
hgdprs4986893
ensemblrs4986893
gopubmedrs4986893
geneviewrs4986893
scholarrs4986893
googlers4986893
pharmgkbrs4986893
gwascentralrs4986893
openSNPrs4986893
23andMers4986893
23andMe allrs4986893
SNP Nexus

SNPshotrs4986893
SNPdbers4986893
MSV3drs4986893
GWAS Ctlgrs4986893
Merged fromRs57081121
GMAF0.01423
Max Magnitude2.1
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs4986893 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*3 variant. This variant has been linked to poor metabolism of compounds like mephenytoin as well as proguanil, and it therefore has implications for malaria prophylaxis. [PMID 7969038, PMID 9093256]

The risk allele is rs4986893(A).

As a nonfunctioning CYP2C19, this variant would be expected to be a poor metabolizer of several commonly prescribed drugs, including anti-ulcer drugs like omeprazole (trade names Losec and Prilosec), esomeprazole (trade name Nexium), and lansoprazole (Prevacid).

OMIM124020
DescMEPHENYTOIN, POOR METABOLISM OF
Variant0003
Relatedalso
[PMID 21247447OA-icon.png] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population


ClinVar
Risk rs4986893(A;A)
Alt rs4986893(A;A)
Reference rs4986893(G;G)
Significance Drug-response
Disease Mephenytoin Proguanil clopidogrel response - Efficacy
Variation info
Gene CYP2C19
CLNDBN Mephenytoin, poor metabolism of Proguanil, poor metabolism of clopidogrel response - Efficacy, Toxicity/ADR
Reversed 0
HGVS NC_000010.10:g.96540410G>A
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000018397.27, RCV000018398.27, RCV000211151.1,



[PMID 18521743] CYP2C19*17 is associated with decreased breast cancer risk.


[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18974781OA-icon.png] Cataloging coding sequence variations in human genome databases.


[PMID 19136640OA-icon.png] Rapid identification of the hepatic cytochrome P450 2C19 activity using a novel and noninvasive [13C]pantoprazole breath test.


[PMID 21071160] Analysis of 50 SNPs in CYP2D6, CYP2C19, CYP2C9, CYP3A4 and CYP1A2 by MALDI-TOF mass spectrometry in Chinese Han population.


[PMID 22265638] The impact of genetic polymorphisms of P2Y12, CYP3A5 and CYP2C19 on clopidogrel response variability in Iranian patients.


GET Evidence
CYP2C19-W212X
aa_change Trp212Stop
aa_change_short W212X
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.0078125
summary CYP2C19*3 allele. Poor metabolism of Mephenytoin, poor metabolism of Proguanil (FDA approved).



Clopidogrel Efficacy


[PMID 23517020] Influence of CYP2C19*2 and *3 loss-of-function alleles on pharmacodynamic effects of standard- and high-dose clopidogrel in East Asians undergoing percutaneous coronary intervention: the results of the ACCEL-DOUBLE-2N3 study


[PMID 23661171] CYP2C19 genotypes and their impact on clopidogrel responsiveness in percutaneous coronary intervention


[PMID 23645039] High prevalence of CYP2C19*2 allele in Roma samples: study on Roma and Hungarian population samples with review of the literature


[PMID 23130019OA-icon.png] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.