rs11591147, PCSK9

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
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