rs59892895

This is a downstream gene variant variant in the APBB2 gene.

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GWAS Catalog Trait Associations (1)

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

open-angle glaucoma

Hauser MA et al. “Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.” Jama 322(17):1682-1691 (2019)

Allele C

OR 1.19

p 4.0e-13

N 4,365

Large GWAS

multi-ancestry

About APBB2

The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

View all APBB2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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