rs3804082

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.

Alzheimer disease

Ge YJ et al. Genome-wide meta-analysis identifies ancestry-specific loci for Alzheimer's disease. Alzheimer's & Dementia : the Journal of the Alzheimer's Association 20(9):6243-6256 (2024)
Allele A
OR 0.40
p 7.0e-13
N 2,809
Meta-analysis
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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