rs4918031
This is a synonymous variant in the SH3PXD2A gene — it does not change the protein's amino acid sequence.
▶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.
Abnormality of the skeletal system
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.01
p 4.0e-15
N 394,642
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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