Have questions? Visit https://www.reddit.com/r/SNPedia

rs9934438

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.5 coumadin resistance
(G;G) 0 common in clinvar
Make rs9934438(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position31093557
GeneVKORC1
is asnp
is mentioned by
dbSNPrs9934438
ebirs9934438
HLIrs9934438
Exacrs9934438
Varsomers9934438
Maprs9934438
PheGenIrs9934438
hapmaprs9934438
1000 genomesrs9934438
hgdprs9934438
ensemblrs9934438
gopubmedrs9934438
geneviewrs9934438
scholarrs9934438
googlers9934438
pharmgkbrs9934438
gwascentralrs9934438
openSNPrs9934438
23andMers9934438
23andMe allrs9934438
SNP Nexus

SNPshotrs9934438
SNPdbers9934438
MSV3drs9934438
GWAS Ctlgrs9934438
GMAF0.4679
Max Magnitude2.5
? (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
Neighborrs8050894
Distance369
OMIM122700
DescCOUMARIN RESISTANCE
Variant
Relatedalso
OMIM608547
DescVITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1
Variant
Relatedalso
[PMID 21179439OA-icon.png] 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 17048007OA-icon.png] Association of warfarin dose with genes involved in its action and metabolism.


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


[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 18596683OA-icon.png] 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 18752379OA-icon.png] Warfarin pharmacogenetics.


[PMID 18809808OA-icon.png] 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 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 19172700] A genotyping method for VKORC1 1173C > T by Pyrosequencing technology.


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


[PMID 19300499OA-icon.png] A genome-wide association study confirms VKORC1, CYP2C9, and CYP4F2 as principal genetic determinants of warfarin dose.


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


[PMID 20585445OA-icon.png] A novel, single algorithm approach to predict acenocoumarol dose based on CYP2C9 and VKORC1 allele variants.


[PMID 20733952OA-icon.png] Warfarin genotyping using three different platforms.


GET Evidence
rs9934438
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.333333
summary



[PMID 23124848OA-icon.png] SNPs in VKORC1 are risk factors for systemic lupus erythematosus in asians


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


[PMID 24324947OA-icon.png] 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 23691226OA-icon.png] Novel associations of VKORC1 variants with higher acenocoumarol requirements.


[PMID 24966969OA-icon.png] 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
Variation info
Gene VKORC1
CLNDBN Warfarin response warfarin response - Dosage acenocoumarol response - Dosage phenprocoumon response - Dosage
Reversed 0
HGVS NC_000016.9:g.31104878G>A
CLNSRC OMIM Allelic Variant PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000054531.2, RCV000211147.1, RCV000211275.1, RCV000211320.1,