rs184733550

This is a coding sequence variant variant in the ITK gene.

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GWAS Catalog Trait Associations (1)

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

level of T-cell immunoglobulin and mucin domain-containing protein 4 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.20

p 2.0e-13

N 47,745

Large GWAS

European

About ITK

This gene encodes an intracellular tyrosine kinase expressed in T-cells. The protein contains both SH2 and SH3 domains which are often found in intracellular kinases. It is thought to play a role in T-cell proliferation and differentiation. [provided by RefSeq, Jul 2008]

View all ITK variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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