rs57694670

This is a intron variant variant in the SH3PXD2A gene.

GWAS Catalog Trait Associations (1)

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

white matter integrity, age at assessment

Traylor M et al. The BS variant of C4 protects against age-related loss of white matter microstructural integrity. Brain : a Journal of Neurology 145(1):295-304 (2022)
Allele G
OR
p 4.0e-10
N 31,125
Large GWAS
European

About SH3PXD2A

Predicted to enable superoxide-generating NADPH oxidase activator activity. Involved in osteoclast fusion and superoxide metabolic process. Located in cytosol and podosome. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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