rs3760702

This is a downstream gene variant variant in the GIPC1 gene.

GWAS Catalog Trait Associations (1)

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

nephrolithiasis

Allele A
OR 1.09
p 3.0e-19
N 975,370
Large GWAS
multi-ancestry
Lovegrove CE et al. Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations. Journal of the American Society of Nephrology : Jasn 34(12):1991-2011 (2023)
Allele A
OR 1.07
p 8.0e-9
N 739,048
Large GWAS
European
Howles SA et al. Genetic variants of calcium and vitamin D metabolism in kidney stone disease. Nature Communications 10(1):5175 (2019)
Allele A
OR 1.09
p 2.0e-9
N 429,501
Large GWAS
multi-ancestry

About GIPC1

GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking (Lee et al., 2008 [PubMed 18775991]).[supplied by OMIM, Apr 2009]

View all GIPC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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