rs2470893

This is a upstream gene variant variant in the CYP1A1 gene.

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GWAS Catalog Trait Associations (10)

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

coffee consumption

Cornelis MC et al. “Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.” Molecular Psychiatry 20(5):647-656 (2015)
Allele T
OR 0.20
p 5.0e-19
N 48,528
Meta-analysisLarge GWAS
multi-ancestry
Cornelis MC et al. “Genome-wide meta-analysis identifies regions on 7p21 (AHR) and 15q24 (CYP1A2) as determinants of habitual caffeine consumption.” Plos Genetics 7(4):e1002033 (2011)
Allele T
OR 0.12
p 5.0e-14
N 47,431
Meta-analysisLarge GWAS
European
Amin N et al. “Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.” Molecular Psychiatry 17(11):1116-29 (2012)
Allele T
OR 0.07
p 2.0e-11
N 18,176
Large GWAS
European

albuminuria

Haas ME et al. “Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure.” American Journal of Human Genetics 103(4):461-473 (2018)
Allele T
OR 0.01
p 6.0e-16
N 302,687
Large GWAS
European

body fat percentage

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.01
p 1.0e-11
N 394,642
Large GWAS
European

blood urea nitrogen amount

Wuttke M et al. “A catalog of genetic loci associated with kidney function from analyses of a million individuals.” Nature Genetics 51(6):957-972 (2019)
Allele T
OR 0.01
p 9.0e-11
N 416,178
Large GWAS
European, NR

body mass index

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 2.0e-10
N 694,649
Large GWAS
European

platelet component distribution width

Astle WJ et al. “The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.” Cell 167(5):1415-1429.e19 (2016)
Allele T
OR 0.02
p 4.0e-10
N 164,433
Large GWAS
European

Moderate albuminuria

Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele T
OR 1.05
p 1.0e-9
N 348,954
Large GWAS
European, South Asian, East Asian, African American or Afro-Caribbean, Hispanic or Latin American

urinary albumin to creatinine ratio

Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele T
OR 0.02
p 1.0e-26
N 547,361
Large GWAS
European
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Research that mentions this SNP (2)

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Smoking, the xenobiotic pathway, and clubfoot
AssociationN=1,776Sommer A. et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This family-based association study examined genetic variation in xenobiotic metabolism genes and clubfoot risk. In 1,776 individuals from 619 families, rs1048943/CYP1A1 showed significant altered transmission (p=0.003), and CYP1A2 variants demonstrated both maternal (rs11854147, p=0.03, RR=1.24) and fetal (rs2470890, p=0.01, RR=1.33) genotypic effects. A significant gene interaction was detected between rs105740/EPHX1 and rs1799929/NAT2 (p=0.007). The authors conclude that xenobiotic metabolism genes may contribute to clubfoot susceptibility, particularly in the context of maternal smoking exposure.

Traits studied:ClubfootIdiopathic talipes equinovarus
PubMedDOIMetascience Observatory
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Xenobiotic‐Metabolizing gene polymorphisms and ovarian cancer risk
AssociationN=3,617Ellen L. Goode et al.(2011)· Molecular Carcinogenesis

A case-control study of 1,571 ovarian cancer cases and 2,046 controls found associations between xenobiotic-metabolizing gene polymorphisms and ovarian cancer risk. EPHX1 rs1051740 was associated with increased serous ovarian cancer risk (OR 1.17, p = 0.01), ADH4 rs1042364 with decreased ovarian cancer risk (OR 0.90, p = 0.05), and NQO1 rs2917666 with increased ovarian cancer risk (OR 1.11, p = 0.04).

Traits studied:Ovarian cancerSerous ovarian cancer
PubMedDOIMetascience Observatory

About CYP1A1

This gene, CYP1A1, 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 some polycyclic aromatic hydrocarbons (PAHs), some of which are found in cigarette smoke. The enzyme's endogenous substrate is unknown; however, it is able to metabolize some PAHs to carcinogenic intermediates. The gene has been associated with lung cancer risk. A related family member, CYP1A2, is located approximately 25 kb away from CYP1A1 on chromosome 15. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]

View all CYP1A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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