Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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