rs121908002

This is a stop gained variant in the IRAK4 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 interleukin-1 receptor-associated kinase 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 T

OR 1.14

p 5.0e-26

N 47,745

Large GWAS

European

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ClinVar annotation

Pathogenic★★★☆

10 submitters14 publications

IRAK4-related disorder; Immunodeficiency 67

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About IRAK4

This gene encodes a kinase that activates NF-kappaB in both the Toll-like receptor (TLR) and T-cell receptor (TCR) signaling pathways. The protein is essential for most innate immune responses. Mutations in this gene result in IRAK4 deficiency and recurrent invasive pneumococcal disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

View all IRAK4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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