Rs1799853

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dbSNPrs1799853
hapmaprs1799853
hgdprs1799853
ensemblrs1799853
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hgvbaseg2prs1799853
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23andMers1799853
SNP Nexus

GeneCYP2C9
Chromosome10
Orientationplus
Position96692036
GenotypeEffect
rs1799853(C;C)normal; no change in warfarin metabolism
rs1799853(C;T)CYP2C9*2 carrier; average 20% reduction in warfarin metabolism
rs1799853(T;T)CYP2C9*2 homozygote; average 40% reduction in warfarin metabolism


Genotypes Magnitude Summary
Rs1799853(C;C) 0.10.1 normal; no change in warfarin metabolism
Rs1799853(C;T) CYP2C9*2 carrier; average 20% reduction in warfarin metabolism
Rs1799853(T;T) 2.12.1 CYP2C9*2 homozygote; average 40% reduction in warfarin metabolism
rs1799853 is a SNP in the CYP2C9 gene. The rs1799853(T) allele encodes a variant amino acid, cysteine, which has been linked to poor metabolism of warfarin and thus sensitivity [PMID 15608560]. The common nomenclature for this polymorphism is CYP2C9*2 (Cys amino acid, T allele; the SNP is also known as C430T or Cys144Arg).

The effect of CYP2C9 variants on drug metabolism should not be predicted without also considering CYP2C9*3, defined as the common loss of function variant rs1057910(C) [1] (NM_000771:c.430C>T, NP_000762:p.144R>C) [PMID 8004131] [2].

Individuals carrying this SNP may show increased risk of developing acute gastrointestinal bleeding during the use of NSAIDs that are CYP2C8 or CYP2C9 substrates, such as aceclofenac, celecoxib, diclofenac, ibuprofen, indomethazine, lornoxicam, meloxicam, naproxen, piroxicam, tenoxicam and valdecoxib.[PMID 19422321]

? (T;T) (C;C) (C;T)
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
P-val 1E-31
Odds Ratio 0.54 [0.45-0.63] mg/week decrease
PharmGKBPA161145194
NameCYP2C9*2, CYP2C9:144Arg>Cys
AnnotationThis variant has been shown to influence warfarin dose as well as affecting the clearance of several other drugs.
GeneCYP2C9
FeatueExon/NonSyn
EvidenceWeb Resource:http://www.pharmgkb.org/search/annotatedGene/cyp2c9/variant.jsp#ImportantVariantInformationforCYP2C9-111
Drugsfluvastatin, glipizide, phenytoin, tolbutamide, warfarin
Diseases
Curation LevelIn-Depth