Gene: PCSK9 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852912
rs137852912
PCSK9
0.740 GeneticVariation BEFREE We have hypothesized that transgenic Ossabaw swine expressing chimp <i>PCSK9</i> (proprotein convertase subtilisin-like/kexin type 9) containing the D374Y gain of function would develop familial hypercholesterolemia and coronary artery plaques more rapidly than Landrace swine with the same transgene. 29572319

2018
dbSNP: rs137852912
rs137852912
PCSK9
0.740 GeneticVariation BEFREE PCSK 9 gain-of-function mutations (R496W and D374Y) and clinical cardiovascular characteristics in a cohort of Turkish patients with familial hypercholesterolemia. 28777095

2017
dbSNP: rs137852912
rs137852912
PCSK9
0.740 GeneticVariation BEFREE We measured plasma PCSK9 concentrations in healthy men with a PCSK9 (proprotein convertase subtilisin/kexin type 9) loss-of-function variant (p.R46L), in statin-treated patients with a clinical diagnosis of familial hypercholesterolemia (FH) and carrying a PCSK9 gain-of-function mutation (p.D374Y), and in statin-treated patients with FH due to different genetic causes. 19797716

2009
dbSNP: rs137852912
rs137852912
PCSK9
0.740 GeneticVariation BEFREE We have identified the D374Y mutant of PCSK9 in three FH families of English origin; all 12 affected individuals have unusually severe hypercholesterolaemia and require more stringent treatment than typical FH patients, who are heterozygous for defects in the LDL receptor. 15772090

2005
dbSNP: rs137852912
rs137852912
PCSK9
C 0.740 CausalMutation CLINVAR

dbSNP: rs137852912
rs137852912
PCSK9
T 0.740 GeneticVariation CLINVAR

dbSNP: rs137852912
rs137852912
PCSK9
T 0.740 CausalMutation CLINVAR

dbSNP: rs564427867
rs564427867
PCSK9
0.720 GeneticVariation BEFREE Mean plasma total cholesterol (TC) (9.93 ± 2.95 mmol/L, mean ± SD) in true homo-FH cases with PCSK9 E32K or double hetero-FH cases with PCSK9 E32K and LDLR mutations were significantly lower than those in true homo-FH (18.06 ± 4.96 mmol/L) and compound heterozygous cases with LDLR mutations (14.84 ± 1.62 mmol/L). 25014035

2014
dbSNP: rs564427867
rs564427867
PCSK9
0.720 GeneticVariation BEFREE The E32K variant of PCSK9 exacerbates the phenotype of familial hypercholesterolaemia by increasing PCSK9 function and concentration in the circulation. 20006333

2010
dbSNP: rs564427867
rs564427867
PCSK9
A 0.720 CausalMutation CLINVAR

dbSNP: rs564427867
rs564427867
PCSK9
A 0.720 GeneticVariation CLINVAR

dbSNP: rs374603772
rs374603772
PCSK9
0.710 GeneticVariation BEFREE This is the first study from a Turkish FH cohort, revealing a higher frequency (approximately 14%) of two PCSK9 GOF mutations (D374Y and R496W) and a different disease course compared to the world literature. 28777095

2017
dbSNP: rs374603772
rs374603772
PCSK9
T 0.710 CausalMutation CLINVAR

dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA. 27998977

2017
dbSNP: rs793888521
rs793888521
PCSK9
A 0.700 GeneticVariation CLINVAR Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction. 26036859

2016
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. 26374825

2015
dbSNP: rs185392267
rs185392267
PCSK9
T 0.700 CausalMutation CLINVAR Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. 26374825

2015
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol. 24115837

2013
dbSNP: rs1057519691
rs1057519691
PCSK9
G 0.700 GeneticVariation CLINVAR Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia. 22683120

2012
dbSNP: rs1057519691
rs1057519691
PCSK9
C 0.700 CausalMutation CLINVAR

dbSNP: rs11583680
rs11583680
PCSK9
G 0.700 CausalMutation CLINVAR

dbSNP: rs1254346075
rs1254346075
PCSK9
A 0.700 CausalMutation CLINVAR

dbSNP: rs1372204035
rs1372204035
PCSK9
G 0.700 CausalMutation CLINVAR

dbSNP: rs139669564
rs139669564
PCSK9
A 0.700 CausalMutation CLINVAR

dbSNP: rs141502002
rs141502002
PCSK9
T 0.700 CausalMutation CLINVAR