rs570314267

This variant is located in the SRGAP1 gene.

GWAS Catalog Trait Associations (1)

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

Splenomegaly

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 2.95
p 7.0e-14
N 627,458
Major Consortium StudyLarge GWAS
multi-ancestry

About SRGAP1

The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]

View all SRGAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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