rs4241819

This is a intron variant variant in the KLKB1 gene.

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GWAS Catalog Trait Associations (10)

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

bile salt sulfotransferase measurement

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 0.07
p 3.0e-35
N 47,745
Large GWAS
European

apolipoprotein B 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 0.12
p 3.0e-20
N 10,708
Large GWAS
European

protachykinin-1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.220
p 4.0e-19
N 3,301
Large GWAS
European

acidic leucine-rich nuclear phosphoprotein 32 family member b measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.200
p 1.0e-16
N 3,301
Large GWAS
European

interleukin-2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR 0.19
p 7.0e-15
N 3,301
Large GWAS
European

apolipoprotein A-IV measurement

Lamina C et al. “A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.” Human Molecular Genetics 25(16):3635-3646 (2016)
Allele C
OR 0.15
p 6.0e-14
N 13,813
Meta-analysisLarge GWAS
European

endothelin-2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele T
OR —
β 0.170
p 1.0e-12
N 3,301
Large GWAS
European

thrombin generation potential measurement, thrombomodulin measurement

Wan J et al. “Kallikrein augments the anticoagulant function of the protein C system in thrombin generation.” Journal of Thrombosis and Haemostasis : Jth 20(1):48-57 (2022)
Allele T
OR 0.36
p 4.0e-8
N 327
Small 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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