rs3733402

This is a variant in the KLKB1 gene that changes a serine to an asparagine.

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GWAS Catalog Trait Associations (28)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.51
p —
N 10,708
Large GWAS
European

plasma serine protease inhibitor 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 0.15
p 8.0e-160
N 47,745
Large GWAS
European

vascular endothelial growth factor D measurement

Folkersen L et al. “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.” Nature Metabolism 2(10):1135-1148 (2020)
Allele A
OR 0.17
p 2.0e-83
N 21,758
Large GWAS
European

histidine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 14.67
p 1.0e-48
N 80,809
Large GWAS
European
Kettunen J et al. “Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.” Nature Communications 7:11122 (2016)
Allele A
OR 0.08
p 9.0e-15
N 19,244
Large GWAS
European

level of Ile-Val in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.50
p 3.0e-45
N 1,746
Large GWAS
multi-ancestry

level of Tryptophyl-Asparagine in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.41
p 1.0e-42
N 2,661
Large GWAS
multi-ancestry

level of Leu-Phe in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.39
p 5.0e-42
N 2,825
Large GWAS
multi-ancestry

level of Gly-Tyr in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.40
p 7.0e-37
N 2,468
Large GWAS
multi-ancestry

level of His-Phe in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.44
p 4.0e-35
N 1,739
Large GWAS
multi-ancestry

level of His-Leu in blood

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.35
p 3.0e-30
N 2,566
Large GWAS
multi-ancestry
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ClinVar annotation

Pathogenic★★★☆
10 submitters4 publications

Inherited prekallikrein deficiency; Prekallikrein deficiency; not specified

View on ClinVar →

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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