Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2228671
rs2228671
0.730 GeneticVariation BEFREE We concluded that the heterozygosity in LDLR-rs72658855and rs2228671 and T allele in LDLR rs2228671are strongly associated with an increased susceptibility to coronary artery disease. 31613733

2020

dbSNP: rs2228671
rs2228671
0.730 GeneticVariation BEFREE Meta-analysis has established rs2228671 as a protective factor of CHD in Europeans. 24900971

2014

dbSNP: rs2228671
rs2228671
0.730 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282

2011

dbSNP: rs2228671
rs2228671
0.730 GeneticVariation BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930

2010

dbSNP: rs6511720
rs6511720
0.720 GeneticVariation BEFREE The phenotype-genotype analysis showed that the rs6511720 minor allele is associated with lower level of LDL-C [beta = -0.2209, p = 3.85 x10-262], and lower risk of CHD [log (OR) = 0.1155, p = 1.04 x10-7].Rs6511720 is in complete linkage. 27973560

2016

dbSNP: rs6511720
rs6511720
0.720 GeneticVariation BEFREE LDLR rs6511720 is associated with AAA.This finding is consistent with established effects of this variant on coronary artery disease. 24046328

2013

dbSNP: rs6511720
rs6511720
0.720 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282

2011

dbSNP: rs6511720
rs6511720
0.720 GeneticVariation GWASDB Large-scale gene-centric analysis identifies novel variants for coronary artery disease. 21966275

2011

dbSNP: rs72658855
rs72658855
0.010 GeneticVariation BEFREE A non-significant association was reported in recessive inheritance model for variant (CC+CT) vs. TT OR 0.56(0.16-1.95), P<0.36. and in dominant inheritance model for variant CC vs. (CT+TT) OR 2.8(1.07-7.34),P<0.032 .In case of allelic comparison, it was indicated that the LDLR rs2228671-T allele was associated with an increased risk of developing risk of CAD compared to C allele OR=2.4, 95% CI (1.05-5.64) P< 0.036 .Our findings showed that LDLR rs72658855 C>T gene variability is associated with an increased susceptibility to coronary artery disease in codominant inheritance model for variant CC vs. CT OR 1.7(1.1-2.6), P<0.015 and in dominant inheritance model for variant CC vs. (CT+TT) OR 1.66(1.07-2.58),P<0.0.02. 31613733

2020

dbSNP: rs761954844
rs761954844
0.010 GeneticVariation BEFREE The C308Y mutation in LDL-R results in approximately 70% loss of LDL-R activity, leading to the elevation of low density lipoprotein-cholesterol (LDL-C) and an increased risk of premature coronary heart disease (CHD). 31706281

2019

dbSNP: rs688
rs688
0.010 GeneticVariation BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930

2010

dbSNP: rs879254920
rs879254920
0.010 GeneticVariation BEFREE Thus, these data confirm the absence of a significant impact of the A370T polymorphism on LDL receptor function, at least as measured by the effect on plasma lipid levels and CHD risk. 17044844

2006

dbSNP: rs879254960
rs879254960
0.010 GeneticVariation BEFREE Thus, these data confirm the absence of a significant impact of the A370T polymorphism on LDL receptor function, at least as measured by the effect on plasma lipid levels and CHD risk. 17044844

2006

dbSNP: rs1249040838
rs1249040838
0.010 GeneticVariation BEFREE The K allele of the R219K variant was significantly more frequent in FH subjects without premature CHD (0.32, 95% CI 0.27 to 0.37) than in FH subjects with premature CHD (0.25, 95% CI 0.21 to 0.29) (p<0.05), suggesting that the genetic variant R219K in ABCA1 could influence the development and progression of atherosclerosis in FH subjects. 12624133

2003

dbSNP: rs544456198
rs544456198
0.010 GeneticVariation BEFREE Manipulating LOX-1 activity might be a useful therapeutic and preventative approach for coronary artery disease, especially for individuals with the G501C genotype of OLR1. 12646194

2003

dbSNP: rs752596535
rs752596535
0.010 GeneticVariation BEFREE Manipulating LOX-1 activity might be a useful therapeutic and preventative approach for coronary artery disease, especially for individuals with the G501C genotype of OLR1. 12646194

2003

dbSNP: rs1035071612
rs1035071612
0.010 GeneticVariation BEFREE The C766T low-density lipoprotein receptor related protein polymorphism and coronary artery disease, plasma lipoproteins, and longevity in the Czech population. 11357934

2001