Rs9923231

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dbSNPrs9923231
hapmaprs9923231
hgdprs9923231
ensemblrs9923231
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23andMers9923231
SNP Nexus

GeneVKORC1
Chromosome16
Orientationplus
Position31015189
GenotypeEffect
rs9923231(C;C)normal
rs9923231(C;T)reduced warfarin dose if treated for VTE
rs9923231(T;T)reduced warfarin dose if treated for VTE


Genotypes Magnitude Summary
Rs9923231(C;C) 00 normal
Rs9923231(C;T) 22 reduced warfarin dose if treated for VTE
Rs9923231(T;T) 2.12.1 reduced warfarin dose if treated for VTE

Several SNPs in the VKORC1 gene have been linked to warfarin sensitivity, with perhaps the most common being this SNP, rs9923231, also known as -1639G>A or VKORC1*2. Note that the orientation as published in scientific articles is typically on the opposite strand compared to the orientation in dbSNP.

The main findings related to the treatment of venous thromboembolism (aka VTE; from hypercoagulability) with the blood thinner warfarin for this SNP are that carriers of the rs9923231(T) allele require significantly reduced doses of warfarin, and are (otherwise) at a higher risk of serious bleeding.[PMID 15930419]

Clinical studies demonstrate that VKORC1 promoter SNP –1639G>A (rs9923231), and the tightly linked intron1 SNP 1173C>T, predict warfarin dose more accurately than intron 2 SNP 1542G>C in blacks. Increased warfarin dose requirement in blacks was accounted for by lower frequency of the rs9923231(T) allele. Therefore, –1639G>A is a suitable biomarker for warfarin dosing across ethnic populations.[PMID 18523153]

Note: in addition to -1639G>A, another synonym for rs9923231 is "3673", based on its position in GenBank accession number AY587020.

Related to COUMARIN RESISTANCE according to omim 122700. See also


Related to VITAMIN K EPOXIDE REDUCTASE COMPLEX, SUBUNIT 1; VKORC1 according to omim 608547. See also
GWAS snp
PMID [PMID 19300499]
Trait Warfarin maintenance dose
Title A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose
Risk Allele T
P-val 0
Odds Ratio 0.97 [0.91-1.02] mg/week decrease
PharmGKBPA161145140
NameVKORC1:G3673A, VKORC1:-1639G>A
AnnotationBelieved to be the causative allele for the low dose phenotype in warfarin therapy based on both in vitro and in vivo evidence
GeneVKORC1
FeatueNA
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/vkorc1/variant.jsp#ImportantVariantInformationforVKORC1-3673
Drugswarfarin
Diseases
Curation LevelIn-Depth
? (C;C) (C;T) (T;T)