Rs41291556

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is asnp
is mentioned by
dbSNPrs41291556
hapmaprs41291556
hgdprs41291556
ensemblrs41291556
gopubmedrs41291556
scholarrs41291556
googlers41291556
pharmgkbrs41291556
hgvbaseg2prs41291556
medrefsnprs41291556
23andMers41291556
SNP Nexus

Chromosome10
Orientationplus
Position96525162
GenotypeEffect
rs41291556(C;C)CYP2C19*8 homozygote
rs41291556(C;T)carrier of one CYP2C19*8 allele
rs41291556(T;T)normal


Genotypes Magnitude Summary
Rs41291556(C;C) 33 CYP2C19*8 homozygote
Rs41291556(C;T) 22 carrier of one CYP2C19*8 allele
Rs41291556(T;T) 00 normal
Defines the CYP2C19 variant known as CYP2C19*8.

Carriers of the rs41291556(C) allele may have decreased activity and poor metabolizer (PM) phenotype. This variant is associated with a dramatic (approximately 90% and 70%) reduction in the metabolism of S-mephenytoin and tolbutamide in vitro.[PMID 10411572]

PharmGKBPA162355683
NameCYP2C19:358T>C, 12711T>C, W120R, T358C
AnnotationThis variant is the defining SNP for CYP2C19*8 and leads to decreased activity and poor metabolizer (PM) phenotype.This variant is associated with a dramatic (approximately 90% and 70%) reduction in the metabolism of S-mephenytoin and tolbutamide in vitro.
GeneCYP2C19
FeatueExon
EvidencePubMed ID:10411572
Drugsmephenytoin, tolbutamide
Diseases
Curation LevelCurated