rs71640036

This is a intron variant variant in the KLKB1 gene.

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GWAS Catalog Trait Associations (4)

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

UDP-glucuronic acid decarboxylase 1 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 0.12
p 2.0e-89
N 47,745
Large GWAS
European

serum lipopolysaccharide activity

Leskelä J et al. “Genetic Profile of Endotoxemia Reveals an Association With Thromboembolism and Stroke.” Journal of the American Heart Association 10(21):e022482 (2021)
Allele G
OR 0.25
p 5.0e-78
N 11,296
Large GWAS
European

chromogranin-A 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 0.06
p 1.0e-27
N 47,745
Large GWAS
European

L-arginine measurement

Zhang W et al. “Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels.” Thrombosis and Haemostasis 116(6):1041-1049 (2016)
Allele G
OR 1.40
p 2.0e-22
N 2,295
Large GWAS
multi-ancestry

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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