Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12122803
rs12122803
Entrez Id: 55732
Gene Symbol: C1orf112
C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs12132692
rs12132692
Entrez Id: 6401;55732;101928628
Gene Symbol: SELE;C1orf112;LOC101928628
SELE;C1orf112;LOC101928628
CUI: C1629609
Disease:
Age at menopause
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs16862512
rs16862512
Entrez Id: 55732;107985745
Gene Symbol: C1orf112;LOC107985745
C1orf112;LOC107985745
CUI: C0523953
Disease:
Cardiac troponin T measurement
C 0.700 GeneticVariation GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
dbSNP: rs185120584
rs185120584
Entrez Id: 55732
Gene Symbol: C1orf112
C1orf112
CUI: C1861172
Disease:
Venous Thromboembolism
0.700 GeneticVariation GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
dbSNP: rs2223286
rs2223286
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0200638
Disease:
Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4265482
rs4265482
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs4987358
rs4987358
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs4987358
rs4987358
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
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: rs7531806
rs7531806
Entrez Id: 55732;107985745
Gene Symbol: C1orf112;LOC107985745
C1orf112;LOC107985745
CUI: C0001144
Disease:
Acne Vulgaris
A 0.700 GeneticVariation GWASCAT Two new susceptibility loci 1q24.2 and 11p11.2 confer risk to severe acne. 24399259 2014
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The results of our meta-analysis suggest that SELE genetic polymorphisms might be strongly correlated with an increased risk of CHD (allele model: OR 2.08, 95% CI 1.67-2.58, P<0.001; dominant model: OR 2.12, 95% CI 1.68-2.68, P<0.001; respectively), especially the SELE 554L/F, 98G/T and 128S/R polymorphisms. 24458828 2014
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The results of our meta-analysis suggest that SELE genetic polymorphisms might be strongly correlated with an increased risk of CHD (allele model: OR 2.08, 95% CI 1.67-2.58, P<0.001; dominant model: OR 2.12, 95% CI 1.68-2.68, P<0.001; respectively), especially the SELE 554L/F, 98G/T and 128S/R polymorphisms. 24458828 2014
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The interaction of classical risk factors for CAD with S128R polymorphism in our study population showed that the significant determinants of coronary artery disease were presence of diabetes, hypertension, smoking habit, elevated serum triglycerides and low HDL. 19942746 2009
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The interaction of classical risk factors for CAD with S128R polymorphism in our study population showed that the significant determinants of coronary artery disease were presence of diabetes, hypertension, smoking habit, elevated serum triglycerides and low HDL. 19942746 2009
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease. 17578587 2007
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE The interactive role of type 2 diabetes mellitus and E-selectin S128R mutation on susceptibility to coronary heart disease. 17578587 2007
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE E-selectin S128R polymorphism and severe coronary artery disease in Arabs. 16756647 2006
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE E-selectin S128R polymorphism and severe coronary artery disease in Arabs. 16756647 2006
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE An association between the Ser128 Arg polymorphism and coronary heart disease (CHD) has been previously demonstrated in a white population. 15871853 2005
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE Association between the Ser128Arg variant of the E-selectin and risk of coronary artery disease in the central China. 16061120 2005
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE Association between the Ser128Arg variant of the E-selectin and risk of coronary artery disease in the central China. 16061120 2005
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE An association between the Ser128 Arg polymorphism and coronary heart disease (CHD) has been previously demonstrated in a white population. 15871853 2005
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. 15013273 2003
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE In subjects suffering from diabetes mellitus type 2 the E-selectin S128R polymorphism is not associated with coronary artery disease nor with an increased risk for myocardial infarction. 15013273 2003
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE All P-selectin polymorphisms as well as a common E-selectin polymorphism, Ser128Arg which has been reported as being associated with an increased risk of premature coronary heart disease (CHD), and is in tight linkage disequilibrium with several P-selectin polymorphisms, were investigated in 647 patients with MI and 758 control subjects from four regions of France and Northern Ireland (the ECTIM study). 9668170 1998
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE All P-selectin polymorphisms as well as a common E-selectin polymorphism, Ser128Arg which has been reported as being associated with an increased risk of premature coronary heart disease (CHD), and is in tight linkage disequilibrium with several P-selectin polymorphisms, were investigated in 647 patients with MI and 758 control subjects from four regions of France and Northern Ireland (the ECTIM study). 9668170 1998