rs60587303

This is a regulatory region variant variant in the STK39 gene.

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GWAS Catalog Trait Associations (1)

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

type 1 diabetes mellitus

Forgetta V et al. “Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.” Diabetes 69(4):784-795 (2020)

Allele C

OR 1.97

p 3.0e-9

N 24,840

Large GWAS

European

About STK39

This gene encodes a serine/threonine kinase that is thought to function in the cellular stress response pathway. The kinase is activated in response to hypotonic stress, leading to phosphorylation of several cation-chloride-coupled cotransporters. The catalytically active kinase specifically activates the p38 MAP kinase pathway, and its interaction with p38 decreases upon cellular stress, suggesting that this kinase may serve as an intermediate in the response to cellular stress. [provided by RefSeq, Jul 2008]

View all STK39 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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