rs146531709

This is a intron variant variant in the OSBP2 gene.

GWAS Catalog Trait Associations (1)

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

musculoskeletal system disease

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.53
p 7.0e-12
N 567,793
Major Consortium StudyLarge GWAS
multi-ancestry

About OSBP2

The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]

View all OSBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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