rs9934438
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2.5 | coumadin resistance |
| (G;G) | 0 | common in clinvar |
| Make rs9934438(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 31093557 |
| Gene | VKORC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs9934438 |
| dbSNP (classic) | rs9934438 |
| ClinGen | rs9934438 |
| ebi | rs9934438 |
| HLI | rs9934438 |
| Exac | rs9934438 |
| Gnomad | rs9934438 |
| Varsome | rs9934438 |
| LitVar | rs9934438 |
| Map | rs9934438 |
| PheGenI | rs9934438 |
| Biobank | rs9934438 |
| 1000 genomes | rs9934438 |
| hgdp | rs9934438 |
| ensembl | rs9934438 |
| geneview | rs9934438 |
| scholar | rs9934438 |
| rs9934438 | |
| pharmgkb | rs9934438 |
| gwascentral | rs9934438 |
| openSNP | rs9934438 |
| 23andMe | rs9934438 |
| SNPshot | rs9934438 |
| SNPdbe | rs9934438 |
| MSV3d | rs9934438 |
| GWAS Ctlg | rs9934438 |
| GMAF | 0.4679 |
| Max Magnitude | 2.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 18218987] risk of aortic calcification was calculated, adjusted for potential confounders. The T allele frequency of the VKORC1 1173C>T polymorphism was 38.8%. 1185 (37.2%) persons were homozygous CC, 1529 (48,0%) were heterozygous CT and 473 (14.8%) were homozygous TT. Persons with at least one T-allele had a statistically significant 19% (95% CI 2 to 40%) risk increase of calcification of the aortic far wall compared to CC homozygous persons
[PMID 21179439
] VKORC1 common variation and bone mineral density in the Third National Health and Nutrition Examination Survey
[PMID 22118051] Genetic variants in CYP (-1A2, -2C9, -2C19, -3A4 and -3A5), VKORC1 and ABCB1 genes in a black South African population: a window into diversity
[PMID 16270629] VKORC1 haplotypes and their impact on the inter-individual and inter-ethnical variability of oral anticoagulation.
[PMID 17048007] Association of warfarin dose with genes involved in its action and metabolism.
[PMID 18252229] Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
[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 18596683] Dosing algorithms to predict warfarin maintenance dose in Caucasians and African Americans.
[PMID 18680736] Genetic factors contribute to patient-specific warfarin dose for Han Chinese.
[PMID 18752379] Warfarin pharmacogenetics.
[PMID 18809808] Ethnic differences in cardiovascular drug response: potential contribution of pharmacogenetics.
[PMID 18813101] Impact of VKORC1 haplotypes on long-term graft function in kidney transplantation.
[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 19172700] A genotyping method for VKORC1 1173C > T by Pyrosequencing technology.
[PMID 19228618] Estimation of the warfarin dose with clinical and pharmacogenetic data.
[PMID 19300499] A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.
[PMID 19955245] Warfarin sensitivity genotyping: a review of the literature and summary of patient experience.
[PMID 20585445] A novel, single algorithm approach to predict acenocoumarol dose based on CYP2C9 and VKORC1 allele variants.
[PMID 20733952] Warfarin genotyping using three different platforms.
[PMID 23124848] SNPs in VKORC1 are risk factors for systemic lupus erythematosus in asians
[PMID 23662025] Genetic variation and haplotype structure of the gene Vitamin K epoxide reductase complex, subunit 1 in the Tamilian population
[PMID 24324947] VKORC1 and CYP2C9 Genotype Variations in Relation to Warfarin Dosing in Korean Stroke Patients
[PMID 24602049] Association of gene polymorphisms with the risk of warfarin bleeding complications at therapeutic INR in patients with mechanical cardiac valves
[PMID 23691226] Novel associations of VKORC1 variants with higher acenocoumarol requirements.
[PMID 24966969] High resolution melting method to detect single nucleotide polymorphism of VKORC1 and CYP2C9
| ClinVar | |
|---|---|
| Risk | Rs9934438(A;A) |
| Alt | Rs9934438(A;A) |
| Reference | Rs9934438(G;G) |
| Significance | Drug-response |
| Disease | Warfarin response warfarin response - Dosage acenocoumarol response - Dosage phenprocoumon response - Dosage Vitamin K-Dependent Clotting Factors |
| Variation | info |
| Gene | VKORC1 |
| CLNDBN | Warfarin response warfarin response - Dosage acenocoumarol response - Dosage phenprocoumon response - Dosage Vitamin K-Dependent Clotting Factors |
| Reversed | 0 |
| HGVS | NC_000016.9:g.31104878G>A |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000054531.2, RCV000211147.1, RCV000211275.1, RCV000211320.1, RCV000291997.1, |
