rs12243196
This is a regulatory region 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.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
diastolic blood pressure
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele A
OR 0.02
p 1.0e-8
N 1,212,859
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]
View all SH3PXD2A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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