rs187667848

This is a regulatory region variant variant in the BBS1 gene.

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GWAS Catalog Trait Associations (1)

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

beta-1,4-glucuronyltransferase 1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.38

p 8.0e-26

N 47,745

Large GWAS

European

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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