Rs4986893

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is asnp
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dbSNPrs4986893
nextbiors4986893
hapmaprs4986893
1000 genomesrs4986893
hgdprs4986893
ensemblrs4986893
gopubmedrs4986893
scholarrs4986893
googlers4986893
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gwascentralrs4986893
openSNPrs4986893
23andMers4986893
23andMe allrs4986893
SNP Nexus

SNPshotrs4986893
SNPdbers4986893
MSV3drs4986893
GeneCYP2C19
Merged fromRs57081121
Chromosome10
Orientationplus
Position96540410
ReferenceGRCh37 37.1/131
Max Magnitude2.1
Geno Mag Summary
(A;A) 2.1 poor metabolizer of several commonly prescribed drugs
(A;G) 2 carrier
(G;G) 0 normal
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
PharmGKBPA162652697
NameCYP2C19*3
AnnotationIn contrast to other PPIs, esomeprazole-induced healing of GERD appears to be unrelated to the CYP2C19*3 variant.
GeneCYP2C19
FeatueExon/NonSyn
EvidencePubMed ID:16338278
Drugsesomeprazole
DiseasesGastroesophageal Reflux
Curation LevelCurated
PharmGKBPA161145196
NameCYP2C19:636G>A
AnnotationThis variant results in a premature termination codon in cDNA; defining variant for CYP2C19*3.
GeneCYP2C19
FeatueExon/NonSyn
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2c19/haplotype.jsp#ImportantHaplotypeInformationforCYP2C19-3; Web Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2c19/variant.jsp#ImportantVariantInformationforCYP2C19-636
Drugs
Diseases
Curation LevelIn-Depth
PharmGKBPA162363761
NameCYP2C19*3, CYP2C19:G636A
AnnotationSubjects who had previously experienced myocardial infarction and were receiving clopidogrel were almost twice as likely to experience a subsequent cardiovascular event if they carried any two CYP2C19 loss-of-function alleles (CYP2C19*2, CYP2C19*3, CYP2C19*4 or CYP2C19*5) relative to those with none. Patients from this study who underwent percutaneous coronary intervention and carried two CYP2C19 loss-of-function alleles had a 3.58 times greater risk of cardiovascular events as those with none. These results suggest that treatment with clopidogrel is less effective in individuals who are homozygous for CYP2C19 loss-of-function alleles than in those who do not carry CYP2C19 loss-of-function alleles.
GeneCYP2C19
FeatueExon/NonSyn
EvidencePubMed ID:19106083
Drugsclopidogrel
DiseasesCardiovascular Diseases, Death, Myocardial Infarction, Stroke
Curation LevelCurated

[PMID 21247447] CYP2C19 and ABCB1 gene polymorphisms are differently distributed according to ethnicity in the Brazilian general population

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