KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121964952
rs121964952
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		0.800 GeneticVariation UNIPROT A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. 17598838 2007
dbSNP: rs3733402
rs3733402
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		0.800 GeneticVariation UNIPROT A new type of plasma prekallikrein deficiency associated with homozygosity for Gly104Arg and Asn124Ser in apple domain 2 of the heavy-chain region. 17598838 2007
dbSNP: rs121964952
rs121964952
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		0.800 GeneticVariation UNIPROT Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). 14652634 2003
dbSNP: rs3733402
rs3733402
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		0.800 GeneticVariation UNIPROT Severe prekallikrein (Fletcher factor) deficiency due to a compound heterozygosis (383Trp stop codon and Cys529Tyr). 14652634 2003
dbSNP: rs121964952
rs121964952
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs3733402
rs3733402
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0272339
Disease:
Prekallikrein deficiency 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1912826
rs1912826
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0523677
Disease:
Glycine measurement 		A 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs4253248
rs4253248
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0883409
Disease:
Cardiac troponin I measurement 		A 0.700 GeneticVariation GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
dbSNP: rs71640034
rs71640034
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0523677
Disease:
Glycine measurement 		A 0.700 GeneticVariation GWASCAT Assessing the causal association of glycine with risk of cardio-metabolic diseases. 30837465 2019
dbSNP: rs10582034
rs10582034
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12331051
rs12331051
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs139276089
rs139276089
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs142201367
rs142201367
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		TTTTCTAACTTCATCACC 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs143361672
rs143361672
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1511802
rs1511802
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs1973612
rs1973612
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs200357845
rs200357845
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		GCCACCAATCCCA 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs34970894
rs34970894
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs3775298
rs3775298
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4241818
rs4241818
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4241819
rs4241819
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4253276
rs4253276
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C0030605
Disease:
Activated Partial Thromboplastin Time measurement 		0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs4253282
rs4253282
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4253305
rs4253305
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs4253311
rs4253311
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018