rs7752421

This is a splice region variant variant in the SNAP91 gene.

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GWAS Catalog Trait Associations (2)

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

retinal layer thickness

Jackson VE et al. “Multi-omic spatial effects on high-resolution AI-derived retinal thickness.” Nature Communications 16(1):1317 (2025)
Allele T
OR 0.20
p 3.0e-18
N 43,148
Large GWAS
multi-ancestry

age-related hearing impairment

Ivarsdottir EV et al. “The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.” Communications Biology 4(1):706 (2021)
Allele T
OR 1.03
p 1.0e-8
N 713,633
Large GWAS
European

About SNAP91

Predicted to enable several functions, including clathrin adaptor activity; clathrin heavy chain binding activity; and phosphatidylinositol binding activity. Acts upstream of or within regulation of clathrin-dependent endocytosis. Predicted to be located in cytosol; postsynaptic density; and presynaptic membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; cytoplasmic vesicle; and parallel fiber to Purkinje cell synapse. Predicted to be extrinsic component of presynaptic endocytic zone membrane. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Apr 2025]

View all SNAP91 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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