Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767587977
rs767587977
0.010 GeneticVariation BEFREE The rare allele (R1) of the EcoR1 RFLP in exon 29, resulting in an amino acid change (Glu----Lys4154) was seen more frequently in CAD than in controls (0.270 vs 0.207, P less than 0.05). 1972879

1990

dbSNP: rs5182
rs5182
0.010 GeneticVariation BEFREE In a preliminary study we found no association between the distribution of the C/T573 polymorphic site and cardiovascular disease, such as essential hypertension (n = 20) coronary artery disease (n = 16) hypertrophic cardiomyopathy (n = 12) or dilated cardiomyopathy (n = 21). 7713099

1994

dbSNP: rs1801177
rs1801177
LPL
0.050 GeneticVariation BEFREE Two common coding sequence mutations of lipoprotein lipase (serine447-ter, producing a carboxy terminal truncation; and asp9-asn variants) were studied in 329 Caucasian subjects, of whom 243 had angiographic features of premature atheroscelerosis (220 with coronary artery disease; 23 with coronary and peripheral artery disease). 8835323

1995

dbSNP: rs751377893
rs751377893
F5
0.040 GeneticVariation BEFREE In 10 of 29 CAD patients (35%) with the factor V 1691 G-->A mutation and in 124 of 288 CAD patients without the mutation (43%) there was a history of myocardial infarction. 8581514

1995

dbSNP: rs1264352930
rs1264352930
0.010 GeneticVariation BEFREE Delayed postprandial retinyl palmitate and squalene removal in a patient heterozygous for apolipoprotein A-IFIN mutation (Leu 159-->Arg) and low HDL cholesterol level without coronary artery disease. 9125314

1996

dbSNP: rs1384889210
rs1384889210
0.010 GeneticVariation BEFREE Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease. 8840853

1996

dbSNP: rs699
rs699
AGT
0.800 GeneticVariation BEFREE Results indicate that the M235T and T174M variants of the angiotensinogen gene are not associated with CAD in Japanese men. 9313606

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Patients with angiographic evidence of CAD or clinical MI do not show an increased frequency of the C677T transition in the MTHFR gene. 9350916

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE A common mutation (nucleotide 677 C-->T) has been described recently in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which results in a valine for alanine substitution, a thermolabile enzyme, and a tendency to elevate plasma homocysteine levels and which has been proposed to contribute importantly to coronary artery disease. 8994411

1997

dbSNP: rs268
rs268
LPL
0.090 GeneticVariation BEFREE We previously demonstrated that two amino acid substitutions in LPL, the Asn291-Ser and the Asp9-Asn, are associated with elevated triglycerides and lower HDL cholesterol and are present with greater frequency in coronary artery disease (CAD) patients than in normolipidemic control subjects. 9193431

1997

dbSNP: rs1801177
rs1801177
LPL
0.050 GeneticVariation BEFREE We previously demonstrated that two amino acid substitutions in LPL, the Asn291-Ser and the Asp9-Asn, are associated with elevated triglycerides and lower HDL cholesterol and are present with greater frequency in coronary artery disease (CAD) patients than in normolipidemic control subjects. 9193431

1997

dbSNP: rs4762
rs4762
AGT
0.050 GeneticVariation BEFREE Results indicate that the M235T and T174M variants of the angiotensinogen gene are not associated with CAD in Japanese men. 9313606

1997

dbSNP: rs12713559
rs12713559
0.010 GeneticVariation BEFREE The surprising result that only two mutations of apoB in the receptor-binding domain (Arg 3500 Gln and Arg 3531 Cys) were associated with defective LDL binding, hypercholesterolemia, or CAD is in stark contrast with familial hypercholesterolemia, where nearly 150 mutations of the LDL receptor have been described that disrupt its function. 9254062

1997

dbSNP: rs267606661
rs267606661
0.010 GeneticVariation BEFREE Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease. 9360638

1997

dbSNP: rs777249279
rs777249279
0.010 GeneticVariation BEFREE The other four variants identified (Leu 3350 Leu, Gln 3405 Glu, Val 3396 Met, and Ser 3455 Arg) were not associated with defective LDL-receptor binding, hypercholesterolemia, or CAD, nor were the apoB mutations associated with elevated lipid levels in family members. 9254062

1997

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE We conclude that, in our population, the MTHFR C677T mutation is rather common, but it does not appear to be associated per se to CAD. 9596662

1998

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE In this generally well-nourished population, men with the +/+ genotype for the C677T mutation in the methylenetetrahydrofolate reductase gene have no increase in risk of coronary heart disease, even when intake of folate or other B vitamins is low. 9708460

1998

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE Mutation C677T of methylenetetrahydrofolate reductase gene is not associated with coronary artery disease, but possibly with albuminuria, in type 2 diabetic patients. 9806473

1998

dbSNP: rs1217691063
rs1217691063
0.100 GeneticVariation BEFREE In the presence of low serum folate, mutant 5,20-methylenetetrahydrofolate reductase (MTHFR + [A223V/C677T]) in the homozygous state (+/+), may predispose to higher plasma homocysteine (tHct) levels and coronary artery disease (CAD). 9622772

1998

dbSNP: rs1799983
rs1799983
0.100 GeneticVariation BEFREE Recently, a common polymorphism in exon 7 of the eNOS gene (894G-->T) has been reported to be a strong risk factor for coronary artery disease. 9731617

1998

dbSNP: rs662
rs662
0.100 GeneticVariation BEFREE Studies have been conducted to evaluate the possible "protective" role of PON, and especially the influence of the Arg-->Gln 192 polymorphism, in coronary artery disease. 9746266

1998

dbSNP: rs1801133
rs1801133
0.090 GeneticVariation BEFREE In the presence of low serum folate, mutant 5,20-methylenetetrahydrofolate reductase (MTHFR + [A223V/C677T]) in the homozygous state (+/+), may predispose to higher plasma homocysteine (tHct) levels and coronary artery disease (CAD). 9622772

1998

dbSNP: rs268
rs268
LPL
0.090 GeneticVariation BEFREE The LPL(Gly188-->Glu) and LPL(Asn291-->Ser) mutations may confer genetic susceptibility to premature CAD in a small number (approximately 2.4%) of patients; overall these four LPL alleles do not appear to contribute significantly to CAD risk in French Canadians. 9627528

1998

dbSNP: rs268
rs268
LPL
0.090 GeneticVariation BEFREE In the present study, the association of the heterozygous forms of low-density lipoprotein receptor gene mutations causing FH as well as of LPL gene mutations causing (P207L and G188E) or not causing (D9N and N291S) complete loss of LPL activity with angiographically assessed CAD was estimated in a cohort of 412 French Canadian men aged <60 years who consecutively underwent coronary angiography for the investigation of retrosternal pain. 9708657

1998

dbSNP: rs1801177
rs1801177
LPL
0.050 GeneticVariation BEFREE In conclusion, we show that the LPL Asp9Asn mutation is in non-random association with a T G substitution at position -93 of the proximal promoter region and that the combined -93G/Asn9 genotype predisposes to decreased HDL-C levels and an increased risk of CAD. 9550358

1998