Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800978
rs1800978
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
C 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease. 31006134 2019
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE Evaluation of Adenosine Triphosphate-Binding Cassette Transporter A1 (ABCA1) R219K and C-Reactive Protein Gene (CRP) +1059G/C Gene Polymorphisms in Susceptibility to Coronary Heart Disease. 27560308 2016
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE CETP rs5882 (OR = 1.45, P < 0.005) and ABCA1 rs2230806 (OR = 1.42, P = 0.017) polymorphisms were associated with increased risk of CAD. 26936456 2016
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE Among polymorphisms in ATP-binding cassette transporter A1 (ABCA1) gene, the available evidence demonstrates that the ABCA1 R219K polymorphism (G1051A, rs2230806) K allele is associated with a higher high-density lipoprotein cholesterol (HDL- C) level and may play a protective role against coronary artery disease (CAD) risk in Asians and Caucasians. 25877294 2015
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE The R219K polymorphism on ATP-binding cassette transporter A1 gene is associated with coronary heart disease risk in Asia population: evidence from a meta-analysis. 25104170 2015
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE A significant association between ABCA1 R219K gene polymorphism and CAD was found in the Chinese population under the following genetic models: an allelic genetic model (OR 0.70, 95 % CI 0.62-0.78, P < 0.00001), a recessive genetic model (OR 0.51, 95 % CI 0.41-0.64, P < 0.00001), an additive genetic model (OR 0.816, 95 % CI 0780-0.855, P = 0), a dominant genetic model (OR 1.326, 95 % CI 1.232-1.427, P = 0), a homozygote genetic model (OR 0.640, 95 % CI 0.575-0.712, P = 0), and a heterozygote genetic model (OR 0.640, 95 % CI 0.575-0.712, P = 0). 23053993 2012
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE Quantitative assessment of the effect of ABCA1 R219K polymorphism on the risk of coronary heart disease. 21643759 2012
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE The synthesis of available evidence demonstrates that the ABCA1 R219K polymorphism is associated with a higher HDL-C level in Asians and a protective role for CAD risk both in Asians and Caucasians. 21310416 2011
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE We determined the presence of the R219K variant in the ABCA1 gene by polymerase chain reaction (PCR) and restriction analysis in 301 patients with and without CAD. 20303467 2010
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE Effect of R219K polymorphism of the ABCA1 gene on the lipid-lowering effect of pravastatin in Chinese patients with coronary heart disease. 19673941 2009
dbSNP: rs2230806
rs2230806
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.100 GeneticVariation BEFREE The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia. 12700893 2003
dbSNP: rs4149313
rs4149313
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease. 31006134 2019
dbSNP: rs4149313
rs4149313
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE ABCA1 rs4149313 polymorphism and susceptibility to coronary heart disease: a meta-analysis. 24942079 2014
dbSNP: rs4149313
rs4149313
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.030 GeneticVariation BEFREE In silico replication supported the association of rs4149313 with coronary artery disease in an independent meta-analysis including 173,975 individuals of European descent from the CARDIoGRAMplusC4D consortium (odds ratio, 1.03; P-value, 0.048). 23555974 2013
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease. 31006134 2019
dbSNP: rs9282541
rs9282541
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.020 GeneticVariation BEFREE This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. 23152888 2012
dbSNP: rs146292819
rs146292819
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE It can be concluded that GG genotype of rs146292819 polymorphism and altered lipid profile act as risk factors in the pathogenesis of CAD in the Pakistani population. 30945099 2019
dbSNP: rs2472386
rs2472386
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The CT + CC genotype of the dominant model of rs247</span>2386 reduced the risk of CAD only in males (adjusted OR = 0.36, <i>p</i> = 0.001). 30836684 2019
dbSNP: rs4149339
rs4149339
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Polymorphisms of rs4149339</span>, rs4743763 and rs2472386 in <i>ABCA1</i> and three lifestyle factors (physical activity, fried food intake, and dessert intake) were associated with CAD in people with dyslipidemia in southern China. 30836684 2019
dbSNP: rs4743763
rs4743763
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Polymorphisms of rs4149339, rs4743763 and rs2472386 in <i>ABCA1</i> and three lifestyle factors (physical activity, fried food intake, and dessert intake) were associated with CAD in people with dyslipidemia in southern China. 30836684 2019
dbSNP: rs1239681664
rs1239681664
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE ABCB1 C3435T polymorphism and the risk of coronary heart disease: a meta-analysis. 24328528 2014
dbSNP: rs532997003
rs532997003
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The multivariate model included 512 men with coronary artery disease from the REGRESS study who were completely genotyped for eight polymorphisms selected in the univariate procedure (ie, APOA1 G(-75)A, ABCA1 C(-477)T, ABCA1 G1051A, APOC3 T3206G, APOE Arg158Cys, LIPC C(-514)T, LPL Asn291Ser and LPL Ser447Stop). 15657615 2005
dbSNP: rs2066714
rs2066714
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1. 12709788 2003
dbSNP: rs2066715
rs2066715
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE While genotype-phenotype associations were not reproduced across populations and loci, V825I and M883I were clearly associated with CAD status in Malays with no effects on HDL-C or apoA1. 12709788 2003