rs182640158

This is a regulatory region variant variant in the EHD1 gene.

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GWAS Catalog Trait Associations (1)

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

hyperuricemia

Kim EY et al. “A genome-wide study on gene-nutrient interactions for hyperuricemia in a large Korean cohort (KoGES).” Scientific Reports 15(1):30626 (2025)

Allele T

OR 0.42

p 1.0e-10

N 47,911

Large GWAS

East Asian

About EHD1

This gene belongs to a highly conserved gene family encoding EPS15 homology (EH) domain-containing proteins. The protein-binding EH domain was first noted in EPS15, a substrate for the epidermal growth factor receptor. The EH domain has been shown to be an important motif in proteins involved in protein-protein interactions and in intracellular sorting. The protein encoded by this gene is thought to play a role in the endocytosis of IGF1 receptors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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