rs4542420

This variant is located in the BBS1 gene.

GWAS Catalog Trait Associations (1)

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

alcohol consumption quality

Saunders GRB et al. Genetic diversity fuels gene discovery for tobacco and alcohol use. Nature 612(7941):720-724 (2022)
Allele C
OR 0.01
p 1.0e-9
N 2,965,643
Large GWAS
European, East Asian, Hispanic or Latin American, African unspecified

About BBS1

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

View all BBS1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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