rs11591147, PCSK9

N. diseases: 28
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity. 30670697 2019
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT The impact of low-frequency and rare variants on lipid levels. 25961943 2015
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB As expected, the minor allele of the PCSK9 R46L variant was in all cohorts associated with reduced PCSK9 levels and decreased plasma low-density lipoprotein-cholesterol concentrations, but no relationship was observed with the plasma triglyceride concentration. 22460556 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044 2008
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044 2008
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE We analyzed the association of the PCSK9 rs11591147 single-nucleotide polymorphism with lipid levels, intima-media thickness (IMT), and the ankle-brachial index, in 1188 adults free of cardiovascular disease, randomly selected from the population. 29773421 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE Conversely, the variant T allele of rs11591147 protects carriers from cardiovascular disease susceptibility and lower TC and LDL-C levels in Caucasians. 28606094 2017
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE Carriers of the PCSK9 (proprotein convertase subtilisin/kexin 9) R46L genetic variant (rs11591147) are characterized by low levels of low-density lipoprotein cholesterol and a decreased risk of cardiovascular disease. 27856457 2017
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE In summary, R46L</span>, I474V, and E670G may be genetic risk factors for cardiovascular disease (CVD) in urban males, rural females, and urban females, respectively. 25899039 2015
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE PCSK9 R46L, lower LDL, and cardiovascular disease risk in familial hypercholesterolemia: a cross-sectional cohort study. 25278291 2014
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.760 GeneticVariation BEFREE Our data support the concept that the rare allele of the R46L SNP at the PCSK9 locus significantly lowers LDL C, but does not greatly reduce CHD risk in an elderly population with a high prevalence of cardiovascular disease. 18262190 2008