rs1801272

This is a variant in the CYP2A6 gene that changes a leucine to an histidine.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

C-reactive protein measurement

Said S et al. “Genetic analysis of over half a million people characterises C-reactive protein loci.” Nature Communications 13(1):2198 (2022)
Allele A
OR 0.05
p 3.0e-14
N 575,531
Large GWAS
European
Han X et al. “Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration.” European Journal of Epidemiology 35(2):139-146 (2020)
Allele A
OR 0.05
p 1.0e-12
N 418,642
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 4.0e-14
N 394,642
Large GWAS
European
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ClinVar annotation

Drug Response
1 submitter8 publications

Nicotine, poor metabolism of; Warfarin response

View on ClinVar →
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Research that mentions this SNP (1)

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Variants in ABCB1 , TGFB1 , and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans
AssociationN=6,779Lyna Zhang et al.(2012)· Hepatology

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

Traits studied:Anti-HAV seropositivityHepatitis A virus (HAV) infection
PubMedDOIMetascience Observatory

About CYP2A6

This gene, CYP2A6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to hydroxylate coumarin, and also metabolizes nicotine, aflatoxin B1, nitrosamines, and some pharmaceuticals. Individuals with certain allelic variants are said to have a poor metabolizer phenotype, meaning they do not efficiently metabolize coumarin or nicotine. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. The gene was formerly referred to as CYP2A3; however, it has been renamed CYP2A6. [provided by RefSeq, Jul 2008]

View all CYP2A6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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