rs71640034

This variant is located in the KLKB1 gene.

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GWAS Catalog Trait Associations (5)

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

bone morphogenetic protein 6 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 0.13
p 1.0e-128
N 47,745
Large GWAS
European

glucosidase 2 subunit beta measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR 0.29
p 2.0e-33
N 3,301
Large GWAS
European

tumor necrosis factor receptor superfamily member 16 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.210
p 7.0e-17
N 3,301
Large GWAS
European

keratin-associated protein 2-4 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.180
p 1.0e-13
N 3,301
Large GWAS
European

glycine measurement

Wittemans LBL et al. “Assessing the causal association of glycine with risk of cardio-metabolic diseases.” Nature Communications 10(1):1060 (2019)
Allele A
OR 0.03
p 6.0e-10
N 80,003
Large GWAS
European

About KLKB1

This gene encodes a glycoprotein that participates in the surface-dependent activation of blood coagulation, fibrinolysis, kinin generation and inflammation. The encoded preproprotein present in plasma as a non-covalent complex with high molecular weight kininogen undergoes proteolytic processing mediated by activated coagulation factor XII to generate a disulfide-linked, heterodimeric serine protease comprised of heavy and light chains. Certain mutations in this gene cause prekallikrein deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

View all KLKB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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