rs11191794
This is a regulatory region variant variant in the SH3PXD2A gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
First degree atrioventricular block
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.17
p 2.0e-19
N 620,615
Major Consortium StudyLarge GWAS
multi-ancestry
Second degree atrioventricular block
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.29
p 2.0e-17
N 449,381
Major Consortium StudyLarge GWAS
European
atrioventricular block
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.12
p 2.0e-19
N 439,351
Major Consortium StudyLarge 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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