rs117229324

This variant is located in the KLK14 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-14 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 0.52
p 2.0e-24
N 10,708
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
3 submitters1 publication

not provided; Lymphoma; Ovarian serous cystadenocarcinoma; Thyroid cancer, nonmedullary, 1; Melanoma; Colon adenocarcinoma; Gastric cancer; Malignant tumor of esophagus; Cervical cancer; Clear cell carcinoma of kidney; Sarcoma; Lung cancer; Uterine corpus endometrial carcinoma

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About KLK14

This gene encodes a member of the kallikrein subfamily of serine proteases that have diverse physiological functions such as regulation of blood pressure and desquamation. The altered expression of this gene is implicated in the progression of different cancers including breast and prostate tumors. The encoded protein is a precursor that is proteolytically processed to generate the functional enzyme. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

View all KLK14 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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