Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE We found a correlation between the M235T molecular variant of AGT and the S128R variant of E-selectin to early severe CHD. 9020385 1997
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0010068
Disease:
Coronary heart disease
0.090 GeneticVariation BEFREE We found a correlation between the M235T molecular variant of AGT and the S128R variant of E-selectin to early severe CHD. 9020385 1997
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
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0027051
Disease:
Myocardial Infarction
0.040 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: C0027051
Disease:
Myocardial Infarction
0.040 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: C0004153
Disease:
Atherosclerosis
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 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 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: C0004153
Disease:
Atherosclerosis
0.060 GeneticVariation BEFREE Functional characterization of atherosclerosis-associated Ser128Arg and Leu554Phe E-selectin mutations. 10430030 1999
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: rs5355
rs5355
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0004153
Disease:
Atherosclerosis
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: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population. 11064106 2000
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE The aim of our study was to evaluate the frequency of the L-selectin gene T668C mutation (from thymine to cytosine at position 668) resulted in F206L an amino acid substitution in patients with overt diabetes and their unaffected first degree relatives in comparison to the unselected control population. 11064106 2000
dbSNP: rs1131498
rs1131498
Entrez Id: 6402;55732
Gene Symbol: SELL;C1orf112
SELL;C1orf112
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.010 GeneticVariation BEFREE It was also shown that there is an association between T668C mutation and low HLA related risk of IDDM development, the highest frequency of F206L mutation in the EGF domain of L-selectin was observed in relatives with 'protective' HLA DQB1*0602 allele and nonDRB1*03-nonDRB1*04 haplotype, while in subjects with highest risk of IDDM haplotype the frequency of T668C mutation was similar to the controls. 11064106 2000
dbSNP: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE After controlling for other CAD risk factors (plasma total cholesterol, triglyceride, LDL-apolipoprotein B. cigarette smoking and the S128R mutation) by multiple logistic analysis, the G98T mutation in the E-selectin gene was still a significant predictor of premature CAD [p = 0.022, odds ratio (95%, CI)= 3.58 (1.20-10.67)]. 11168027 2001
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1956346
Disease:
Coronary Artery Disease
0.070 GeneticVariation BEFREE After controlling for other CAD risk factors (plasma total cholesterol, triglyceride, LDL-apolipoprotein B. cigarette smoking and the S128R mutation) by multiple logistic analysis, the G98T mutation in the E-selectin gene was still a significant predictor of premature CAD [p = 0.022, odds ratio (95%, CI)= 3.58 (1.20-10.67)]. 11168027 2001
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: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C0004153
Disease:
Atherosclerosis
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: C0004153
Disease:
Atherosclerosis
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: 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: rs5361
rs5361
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1956346
Disease:
Coronary Artery Disease
0.080 GeneticVariation BEFREE The Ser128Arg polymorphism of E-selectin was analyzed in 101 (derivation) and 92 (validation) CAD patients. 12036529 2002
dbSNP: rs1458766475
rs1458766475
Entrez Id: 6401;55732
Gene Symbol: SELE;C1orf112
SELE;C1orf112
CUI: C1956346
Disease:
Coronary Artery Disease
0.070 GeneticVariation BEFREE The Ser128Arg polymorphism of E-selectin was analyzed in 101 (derivation) and 92 (validation) CAD patients. 12036529 2002
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