rs144350395

This variant is located in the KLK4 gene.

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GWAS Catalog Trait Associations (1)

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

kallikrein-4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 1.07
p 4.0e-107
N 47,745
Large GWAS
European
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ClinVar annotation

Uncertain Significance★★★☆
3 submitters1 publication

Inborn genetic diseases; Male infertility; not provided

View on ClinVar →

About KLK4

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]

View all KLK4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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