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rs8050894

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.1 warfarin sensitivity (~2.5 mg/day)
(C;G) average warfarin response (~5 mg/day)
(G;G) 2.1 warfarin resistance (~6.5 mg/day)
ReferenceGRCh38 38.1/141
Chromosome16
Position31093188
GeneVKORC1
is asnp
is mentioned by
dbSNPrs8050894
dbSNP (classic)rs8050894
ClinGenrs8050894
ebirs8050894
HLIrs8050894
Exacrs8050894
Gnomadrs8050894
Varsomers8050894
LitVarrs8050894
Maprs8050894
PheGenIrs8050894
Biobankrs8050894
1000 genomesrs8050894
hgdprs8050894
ensemblrs8050894
geneviewrs8050894
scholarrs8050894
googlers8050894
pharmgkbrs8050894
gwascentralrs8050894
openSNPrs8050894
23andMers8050894
SNPshotrs8050894
SNPdbers8050894
MSV3drs8050894
GWAS Ctlgrs8050894
Merged fromRs17886369
GMAF0.4904
Max Magnitude2.1
? (C;C) (C;G) (G;G) 28



rs8050894, is located on chromosome 16 in the gene VKORC1. VKORC1 is the primary target of the drug warfarin (Coumadin), a commonly used oral anticoagulant. rs8050894 is one of several polymorphisms found in VKORC1 that is associated with specific warfarin doses ([PMID 15930419]). Other polymorphisms in VKORC1 (rs7196161, rs9923231, rs9934438, rs2359612) are equally predictive of warfarin dose requirement in both European and Asian-descent individuals.

Other polymorphisms found in the gene cytochrome P450 2C9 (CYP2C9) influence the metabolism of warfarin and have a smaller effect on warfarin dose. These polymorphisms are rs1799853 (CYP2C9*2) and rs1057910 (CYP2C9*3).

[PMID 18841283] In several hundred Europeans, no association was found between rs8050894 and risk for ischemic stroke.


[PMID 19436136OA-icon.png] Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status



[PMID 21179439OA-icon.png] VKORC1 common variation and bone mineral density in the Third National Health and Nutrition Examination Survey

[PMID 17387222OA-icon.png] Genetic-based dosing in orthopedic patients beginning warfarin therapy.

[PMID 17456829OA-icon.png] Evaluation of genetic factors for warfarin dose prediction.

[PMID 18252229OA-icon.png] Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.

[PMID 18305455OA-icon.png] Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin.

[PMID 18466099OA-icon.png] Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans.

[PMID 18523153OA-icon.png] Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement.

[PMID 18559094OA-icon.png] Warfarin dose and INR related to genotypes of CYP2C9 and VKORC1 in patients with myocardial infarction.

[PMID 18752379OA-icon.png] Warfarin pharmacogenetics.

[PMID 18809808OA-icon.png] Ethnic differences in cardiovascular drug response: potential contribution of pharmacogenetics.

[PMID 18855533OA-icon.png] VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans.

[PMID 19074728OA-icon.png] Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy.

[PMID 19228618OA-icon.png] Estimation of the warfarin dose with clinical and pharmacogenetic data.

[PMID 19955245OA-icon.png] Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.

[PMID 21359226OA-icon.png] The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected.



[PMID 23662025OA-icon.png] Genetic variation and haplotype structure of the gene Vitamin K epoxide reductase complex, subunit 1 in the Tamilian population


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


ClinVar
Risk Rs8050894(G;G) rs8050894(T;T)
Alt Rs8050894(G;G) rs8050894(T;T)
Reference Rs8050894(C;C)
Significance Drug-response
Disease warfarin response - Dosage
Variation info
Gene VKORC1
CLNDBN warfarin response - Dosage
Reversed 0
HGVS NC_000016.9:g.31104509C>G
CLNSRC PharmGKB Clinical Annotation
CLNACC RCV000211369.1,