rs4861708

This is a intron variant variant in the KLKB1 gene.

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GWAS Catalog Trait Associations (11)

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

amount of pro-neuropeptide Y (human) 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 A
OR 0.15
p 6.0e-201
N 47,745
Large GWAS
European

level of integrin alpha-6 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 A
OR 0.15
p 1.0e-153
N 47,745
Large GWAS
European

probable serine carboxypeptidase CPVL 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 0.05
p 4.0e-68
N 47,745
Large GWAS
European

blood protein amount

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 0.11
p 1.0e-64
N 47,745
Large GWAS
European

BH3-interacting domain death agonist 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 0.08
p 1.0e-35
N 47,745
Large GWAS
European

matrix extracellular phosphoglycoprotein amount

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 0.05
p 3.0e-23
N 47,745
Large GWAS
European

level of heat shock protein beta-6 in blood serum

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 0.04
p 9.0e-23
N 47,745
Large GWAS
European

hepatocyte growth factor activator level

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 0.05
p 8.0e-20
N 47,745
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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