Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE The rs5361 E-selectin gene polymorphism is not a susceptibility marker for ACS in Western Mexico population. 25147432 2014
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0948089
Disease:
Acute Coronary Syndrome
0.010 GeneticVariation BEFREE Assessment of the E-selectin rs5361 (561A>C) polymorphism and soluble protein concentration in acute coronary syndrome: association with circulating levels. 25147432 2014
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Genotype of the S128R polymorphism was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 329 angiographically proven CAD patients [n=83 acute myocardial infarction (AMI) and n= 246 AMI-free] and 331 age and sex matched control individuals (angiographically proven not to have CAD). 19942746 2009
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0155626
Disease:
Acute myocardial infarction
0.010 GeneticVariation BEFREE Genotype of the S128R polymorphism was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 329 angiographically proven CAD patients [n=83 acute myocardial infarction (AMI) and n= 246 AMI-free] and 331 age and sex matched control individuals (angiographically proven not to have CAD). 19942746 2009
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: rs5368
rs5368
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003165
Disease:
Anthracosis
0.010 GeneticVariation BEFREE The results suggest that the T1559C/rs5368 polymorphism and smoking are involved in the susceptibility to CWP. 24066042 2013
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0852949
Disease:
Arteriopathic disease
0.010 GeneticVariation BEFREE Ser128Arg gene polymorphism for E-selectin and severity of atherosclerotic arterial disease. 15179350 2004
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0852949
Disease:
Arteriopathic disease
0.010 GeneticVariation BEFREE Ser128Arg gene polymorphism for E-selectin and severity of atherosclerotic arterial disease. 15179350 2004
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient populations with atherosclerosis or restenosis. 16908800 2006
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE The aim of this study was to assess E-selectin Ser128Arg polymorphism in subjects with clinical and instrumental evidence of atherosclerosis and to analyze the correlations with clinical severity. 15179350 2004
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE The rs1805193, rs5361, and rs5355 single nucleotide polymorphisms in the E-selectin gene (SEL-E) are associated with subclinical atherosclerosis: The Genetics of Atherosclerotic Disease (GEA) Mexican study. 30501958 2019
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient groups with atherosclerosis or restenosis. 15546947 2005
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030 1999
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE Ser 128Arg of E-selectin and the K469E of ICAM-1 polymorphisms may be involved in predisposition to atherosclerosis. 22648254 2012
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.070 GeneticVariation BEFREE Relationships between the E-selectin S128R polymorphism and coronary artery calcification (CAC), a marker of atherosclerosis detected with noninvasive electron beam computed tomography, were examined in 294 asymptomatic women aged 40--88 years and 314 asymptomatic men aged 30--80 years from the Epidemiology of Coronary Artery Calcification Study. 11466561 2001
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE The aim of this study was to assess E-selectin Ser128Arg polymorphism in subjects with clinical and instrumental evidence of atherosclerosis and to analyze the correlations with clinical severity. 15179350 2004
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030 1999
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient populations with atherosclerosis or restenosis. 16908800 2006
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE The single nucleotide polymorphism (SNP) Ser128Arg in the E-selectin gene is overrepresented in certain patient groups with atherosclerosis or restenosis. 15546947 2005
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE Ser 128Arg of E-selectin and the K469E of ICAM-1 polymorphisms may be involved in predisposition to atherosclerosis. 22648254 2012
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.060 GeneticVariation BEFREE Relationships between the E-selectin S128R polymorphism and coronary artery calcification (CAC), a marker of atherosclerosis detected with noninvasive electron beam computed tomography, were examined in 294 asymptomatic women aged 40--88 years and 314 asymptomatic men aged 30--80 years from the Epidemiology of Coronary Artery Calcification Study. 11466561 2001
dbSNP: rs5355
rs5355
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.020 GeneticVariation BEFREE The rs1805193, rs5361, and rs5355 single nucleotide polymorphisms in the E-selectin gene (SEL-E) are associated with subclinical atherosclerosis: The Genetics of Atherosclerotic Disease (GEA) Mexican study. 30501958 2019
dbSNP: rs5355
rs5355
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0003850
Disease:
Arteriosclerosis
0.020 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030 1999
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE No association was found between F206L polymorphism of L-selectin with asthma. 24798295 2015