rs5030062

This is a intron variant variant in the KNG1 gene.

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GWAS Catalog Trait Associations (21)

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 0.48
p 8.0e-293
N 10,708
Large GWAS
European

level of Ras-related protein Rab-6A 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 C
OR 0.18
p 2.0e-223
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 C
OR 0.14
p 2.0e-137
N 47,745
Large GWAS
European
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele C
OR 0.30
p 5.0e-58
N 5,358
Large GWAS
European

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 C
OR 0.08
p 3.0e-58
N 47,745
Large GWAS
European

factor XI measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.56
p 3.0e-40
N 997
Small GWAS
multi-ancestry

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 C
OR 0.07
p 1.0e-35
N 47,745
Large GWAS
European

histidine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 1.0e-35
N 136,016
Large GWAS
multi-ancestry
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 9.19
p 4.0e-20
N 80,809
Large GWAS
European

plasma kallikrein measurement

Suhre K et al. “Connecting genetic risk to disease end points through the human blood plasma proteome.” Nature Communications 8:14357 (2017)
Allele C
OR 0.52
p 2.0e-35
N 997
Small GWAS
multi-ancestry

phenylalanine measurement

Karjalainen MK et al. “Genome-wide characterization of circulating metabolic biomarkers.” Nature 628(8006):130-138 (2024)
Allele A
OR 0.05
p 5.0e-35
N 136,016
Large GWAS
multi-ancestry

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 C
OR 0.07
p 5.0e-33
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Gene‐centric approach identifies new and known loci for F VIII activity and VWF antigen levels in E uropean A mericans and A frican A mericans
AssociationN=23,603Weihong Tang et al.(2015)· American Journal of Hematology

Gene-centric association study of 18,556 European Americans and 5,047 African Americans identified novel genetic loci associated with Factor VIII coagulant activity (FVIII:C) and von Willebrand factor antigen (VWF:Ag). New associations were found at KNG1 (rs710446, Ile581Thr, p=5.10×10⁻⁷ in EAs; p=3.88×10⁻³ in AAs), VWF (rs7962217, Gly2705Arg, p=6.30×10⁻⁹ in EAs; p=2.98×10⁻² in AAs), TMLHE (rs12557310, p=8.02×10⁻¹⁰ in EAs), and MAT1A (rs2236568, p=1.69×10⁻⁶ in AAs). Variants explained 14.5% of variance in FVIII:C and 15.6% in VWF:Ag.

Traits studied:Cardiovascular diseaseFactor VIII coagulant activity (FVIII:C)Venous thromboembolismvon Willebrand factor antigen (VWF:Ag)
PubMedDOIMetascience Observatory

About KNG1

This gene uses alternative splicing to generate two different proteins- high molecular weight kininogen (HMWK) and low molecular weight kininogen (LMWK). HMWK is essential for blood coagulation and assembly of the kallikrein-kinin system. Also, bradykinin, a peptide causing numerous physiological effects, is released from HMWK. Bradykinin also functions as an antimicrobial peptide with antibacterial and antifungal activity. In contrast to HMWK, LMWK is not involved in blood coagulation. Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) reduces or depletes angiotensin converting enzyme 2 (ACE2), which results in an increase in levels of des-Arg(9)-bradykinin, a bioactive metabolite of bradykinin that is associated with lung injury and inflammation. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2020]

View all KNG1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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