rs6629201

This is a intron variant variant in the REPS2 gene.

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GWAS Catalog Trait Associations (1)

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

renal carcinoma

Purdue MP et al. “Multi-ancestry genome-wide association study of kidney cancer identifies 63 susceptibility regions.” Nature Genetics 56(5):809-818 (2024)

Allele T

OR 1.07

p 2.0e-11

N 864,690

Large GWAS

multi-ancestry

About REPS2

The product of this gene is part of a protein complex that regulates the endocytosis of growth factor receptors. The encoded protein directly interacts with a GTPase activating protein that functions downstream of the small G protein Ral. Its expression can negatively affect receptor internalization and inhibit growth factor signaling. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all REPS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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