Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11591147
rs11591147
0.750 GeneticVariation BEFREE The rs11591147 T allele was associated with 0.5 mmol/L lower LDL-C level (P = 9 × 10-143) and 23% lower CHD risk [odds ratio (OR): 0.77, 95% confidence interval (CI): 0.69-0.87, P = 7 × 10-6]. 29020353

2018

dbSNP: rs11591147
rs11591147
0.750 GeneticVariation BEFREE The single-nucleotide polymorphism (SNP) rs11591147 has been associated with lower LDL-cholesterol and a lower risk of coronary heart disease. 23300213

2013

dbSNP: rs11591147
rs11591147
0.750 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: rs11591147
rs11591147
0.750 GeneticVariation BEFREE The R46L variant in the proprotein-convertase subtilisin-kexin type 9 (PCSK9) gene was associated with reduced levels of LDL and total cholesterol and with a lower risk of coronary artery disease. 20699424

2010

dbSNP: rs11591147
rs11591147
0.750 GeneticVariation BEFREE Caucasian carriers of the T allele at R46L in the proprotein convertase subtilisin/kexin type 9 (PCSK9) locus have been reported to have 15% lower low-density lipoprotein (LDL) cholesterol (C) levels and 47% lower coronary heart disease (CHD) risk. 18262190

2008

dbSNP: rs11591147
rs11591147
0.750 GeneticVariation BEFREE In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia). 17550346

2007

dbSNP: rs505151
rs505151
0.040 GeneticVariation BEFREE The associations between proprotein convertase subtilisin/kexin type 9 E670G polymorphism and the risk of coronary artery disease and serum lipid levels: a meta-analysis. 26576960

2015

dbSNP: rs505151
rs505151
0.040 GeneticVariation BEFREE Effect of E670G Polymorphism in PCSK9 Gene on the Risk and Severity of Coronary Heart Disease and Ischemic Stroke in a Tunisian Cohort. 24599757

2014

dbSNP: rs505151
rs505151
0.040 GeneticVariation BEFREE The PCSK9 gene E670G polymorphism affects low-density lipoprotein cholesterol levels but is not a risk factor for coronary artery disease in ethnic Chinese in Taiwan. 19191720

2009

dbSNP: rs505151
rs505151
0.040 GeneticVariation BEFREE In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia). 17550346

2007

dbSNP: rs752506225
rs752506225
0.010 GeneticVariation BEFREE The ANXA2-R1 domain coding-SNP rs17845226 (V98L) associated with LDL-C, homozygotes for the minor allele having ≈18.8% higher levels of LDL-C (p = 0.004), and higher risk of coronary heart disease (CHD) (p = 0.04). 28456096

2017

dbSNP: rs28362286
rs28362286
0.010 GeneticVariation BEFREE The overall high frequency of the cardioprotective C679X mutation in Africa may contribute to the lower incidence of CHD on this continent. 18652535

2008

dbSNP: rs67608943
rs67608943
0.010 GeneticVariation BEFREE Two nonsense mutations, Y142X and C679X, are associated to lifelong hypocholesterolemia and a remarkable protection against coronary heart disease (CHD) in African Americans. 18652535

2008

dbSNP: rs562556
rs562556
0.010 GeneticVariation BEFREE In the present study, we have determined the relative frequency of the R46L, I474V and E670G variants in the PCSK9 (protein convertase subtilisin/kexin type 9) gene and its association with plasma lipid levels and CHD (coronary heart disease) in healthy U.K. men and patients with clinically defined definite FH (familial hypercholesterolaemia). 17550346

2007