rs57250050

This is a regulatory region variant variant in the GALNT18 gene.

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GWAS Catalog Trait Associations (1)

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

potassium voltage-gated channel subfamily E regulatory beta subunit 5 measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)

Allele T

OR 0.17

p 2.0e-18

N 10,708

Large GWAS

European

About GALNT18

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Jul 2025]

View all GALNT18 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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