Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2842700
rs2842700
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA
CUI: C1861172
Disease:
Venous Thromboembolism 		A 0.700 GeneticVariation GWASCAT Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. 31676865 2019
dbSNP: rs2842700
rs2842700
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA
CUI: C1861172
Disease:
Venous Thromboembolism 		A 0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs11120218
rs11120218
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs17020993
rs17020993
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA
CUI: C2985280
Disease:
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4844573
rs4844573
Entrez Id: 722;107985251
Gene Symbol: C4BPA;LOC107985251
C4BPA;LOC107985251
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12065624
rs12065624
Entrez Id: 722
Gene Symbol: C4BPA
C4BPA
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs45574833
rs45574833
Entrez Id: 722;107985251
Gene Symbol: C4BPA;LOC107985251
C4BPA;LOC107985251
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.020 GeneticVariation BEFREE This did not support an association between the p.Arg240His C4BP polymorphism and predisposition to aHUS in the Spanish population. 19076829 2009
dbSNP: rs45574833
rs45574833
Entrez Id: 722;107985251
Gene Symbol: C4BPA;LOC107985251
C4BPA;LOC107985251
CUI: C2931788
Disease:
Atypical Hemolytic Uremic Syndrome 		0.020 GeneticVariation BEFREE In this study, we report the first functional non-synonymous polymorphism in the complement inhibitor C4b-binding protein (C4BP) alpha-chain (c.719G>A; p.Arg240His), which is associated with aHUS. 18424762 2008