rs4105144

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GWAS Catalog Trait Associations (1)

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

smoking behavior

Thorgeirsson TE et al. “Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.” Nature Genetics 42(5):448-53 (2010)
Allele C
OR 0.39
p 2.0e-12
N 31,266
Large GWAS
European
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Research that mentions this SNP (1)

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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

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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