rs505151, PCSK9

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE In CAD patients, the AG genotype of PSCK9 rs505151 is associated with diabetes and a positive family history of CAD. 30947598 2020
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE No significant association between the PCSK9 E670G polymorphism and serum PCSK9 levels was observed in the CAD group and the controls. 30205809 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE The present meta-analysis concluded that PCSK9 E670G polymorphism was associated with CAD risk and lipid levels. 26576960 2015
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE The E670G polymorphism of the PCSK9 gene is mainly associated with a increased risk and severity of CAD and IS in Tunisian cohort. 24599757 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.050 GeneticVariation BEFREE These results indicate that the E670G polymorphism of the PCSK9 gene modulates plasma LDL-C levels, but that it is not a risk variant for CAD in ethnic Chinese in Taiwan. 19191720 2009
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.040 GeneticVariation BEFREE Haplotype 3 encompassing the E670G variant is an independent determinant of plasma LDL-C levels and the severity of coronary atherosclerosis. 15893176 2005
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE In conclusion, the current meta-analysis highlighted that variant allele of OLR1 rs11053646 G > C and PCSK9 rs505151 A > G may contribute to the susceptibility risk of ischemic stroke. 26666837 2015
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE As expected, the incidence of E670G was significantly important in IS subgroup than control group (0.122 vs. 0.073, p = 0.032). 24599757 2014
Diabetes
CUI: C0011847
Disease: Diabetes
0.010 GeneticVariation BEFREE In CAD patients, the AG genotype of PSCK9 rs505151 is associated with diabetes and a positive family history of CAD. 30947598 2020
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
0.010 GeneticVariation BEFREE In CAD patients, the AG genotype of PSCK9 rs505151 is associated with diabetes and a positive family history of CAD. 30947598 2020
Malaria
CUI: C0024530
Disease: Malaria
0.010 GeneticVariation BEFREE For each polymorphism, the genotype distribution among the three health conditions was statistically insignificant, but for the hypercholesterolemic E670G polymorphism, a trend towards association of the minor allele with malaria severity was observed (P = 0.035). 29447211 2018