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rs28399504

From SNPedia

Clopidogrel (Plavix®)
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 2 carrier of a CYP2C19*4 allele, considered a "slow metabolizer" variant
(G;G) 2.5 poor metabolizer
ReferenceGRCh38 38.1/141
Chromosome10
Position94762706
GeneCYP2C19
is asnp
is mentioned by
dbSNPrs28399504
ebirs28399504
HLIrs28399504
Exacrs28399504
Varsomers28399504
Maprs28399504
PheGenIrs28399504
hapmaprs28399504
1000 genomesrs28399504
hgdprs28399504
ensemblrs28399504
gopubmedrs28399504
geneviewrs28399504
scholarrs28399504
googlers28399504
pharmgkbrs28399504
gwascentralrs28399504
openSNPrs28399504
23andMers28399504
23andMe allrs28399504
SNP Nexus

SNPshotrs28399504
SNPdbers28399504
MSV3drs28399504
GWAS Ctlgrs28399504
GMAF0.001377
Max Magnitude2.5
CPMC Logo.png

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

? (A;A) (A;G) (G;G) 28
rs28399504 is a SNP in the CYP2C19 gene, potentially encoding the CYP2C19*4 variant. This variant has been linked to poor metabolism of compounds like mephenytoin. It is also known as M1V or Met1Val.[PMID 9435198]

The risk allele is rs28399504(G).

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).

According to a 23andMe discussion This is one of the SNPs which were re-analyzed April 2009. Customers with older data may wish to redownload. SNPs effected rs4420638, rs34276300, rs3091244, rs34601266, rs2033003, rs7900194, rs9332239, rs28371685, rs1229984, and rs28399504.

OMIM124020
DescMEPHENYTOIN, POOR METABOLISM OF
Variant0004
Relatedalso
Neighborrs12248560
Distance806
[PMID 21247447OA-icon.png] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population


ClinVar
Risk rs28399504(G,T;G,T)
Alt rs28399504(G,T;G,T)
Reference rs28399504(A;A)
Significance Drug-response
Disease Mephenytoin clopidogrel response - Efficacy
Variation info
Gene CYP2C19
CLNDBN Mephenytoin, poor metabolism of clopidogrel response - Efficacy
Reversed 0
HGVS NC_000010.10:g.96522463A>G
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000018399.28, RCV000211166.1,



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


GET Evidence
CYP2C19-M1V
aa_change Met1Val
aa_change_short M1V
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0078125
summary This variant creates the CYP2C19*4 haplotype which is associated with poor metabolism of mephenytoin.



Clopidogrel Efficacy


[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.