rs8050894
| Orientation | plus |
| Stabilized | plus |
| 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) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31093188 |
| Gene | VKORC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8050894 |
| dbSNP (classic) | rs8050894 |
| ClinGen | rs8050894 |
| ebi | rs8050894 |
| HLI | rs8050894 |
| Exac | rs8050894 |
| Gnomad | rs8050894 |
| Varsome | rs8050894 |
| LitVar | rs8050894 |
| Map | rs8050894 |
| PheGenI | rs8050894 |
| Biobank | rs8050894 |
| 1000 genomes | rs8050894 |
| hgdp | rs8050894 |
| ensembl | rs8050894 |
| geneview | rs8050894 |
| scholar | rs8050894 |
| rs8050894 | |
| pharmgkb | rs8050894 |
| gwascentral | rs8050894 |
| openSNP | rs8050894 |
| 23andMe | rs8050894 |
| SNPshot | rs8050894 |
| SNPdbe | rs8050894 |
| MSV3d | rs8050894 |
| GWAS Ctlg | rs8050894 |
| Merged from | Rs17886369 |
| GMAF | 0.4904 |
| Max Magnitude | 2.1 |
| ? | (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 19436136
] Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status
[PMID 21179439] VKORC1 common variation and bone mineral density in the Third National Health and Nutrition Examination Survey
[PMID 17387222] Genetic-based dosing in orthopedic patients beginning warfarin therapy.
[PMID 17456829] Evaluation of genetic factors for warfarin dose prediction.
[PMID 18252229] Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
[PMID 18305455] Use of pharmacogenetic and clinical factors to predict the therapeutic dose of warfarin.
[PMID 18466099] Influence of CYP2C9 and VKORC1 on warfarin dose, anticoagulation attainment and maintenance among European-Americans and African-Americans.
[PMID 18523153] Regulatory polymorphism in vitamin K epoxide reductase complex subunit 1 (VKORC1) affects gene expression and warfarin dose requirement.
[PMID 18559094] Warfarin dose and INR related to genotypes of CYP2C9 and VKORC1 in patients with myocardial infarction.
[PMID 18752379] Warfarin pharmacogenetics.
[PMID 18809808] Ethnic differences in cardiovascular drug response: potential contribution of pharmacogenetics.
[PMID 18855533] VKORC1 polymorphisms, haplotypes and haplotype groups on warfarin dose among African-Americans and European-Americans.
[PMID 19074728] Relative contribution of CYP2C9 and VKORC1 genotypes and early INR response to the prediction of warfarin sensitivity during initiation of therapy.
[PMID 19228618] Estimation of the warfarin dose with clinical and pharmacogenetic data.
[PMID 19955245] Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.
[PMID 21359226] The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected.
[PMID 23662025] Genetic variation and haplotype structure of the gene Vitamin K epoxide reductase complex, subunit 1 in the Tamilian population
[PMID 23133420] 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, |
