Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908030
rs121908030
LDLR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121908040
rs121908040
LDLR
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137929307
rs137929307
LDLR
A 0.700 CausalMutation CLINVAR

dbSNP: rs139617694
rs139617694
LDLR ; MIR6886
A 0.700 CausalMutation CLINVAR

dbSNP: rs144172724
rs144172724
LDLR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs146200173
rs146200173
LDLR ; MIR6886
G 0.700 GeneticVariation CLINVAR

dbSNP: rs368657165
rs368657165
LDLR
A 0.700 GeneticVariation CLINVAR

dbSNP: rs370777955
rs370777955
LDLR ; MIR6886
G 0.700 CausalMutation CLINVAR

dbSNP: rs374045590
rs374045590
LDLR
G 0.700 GeneticVariation CLINVAR

dbSNP: rs377271627
rs377271627
LDLR
G 0.700 CausalMutation CLINVAR

dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE Huh7 human hepatoma cells were transiently transfected to overexpress the gain-of-function D374Y PCSK9 mutation, which has been associated with severe hypercholesterolemia in humans. 31564372

2020
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.100 GeneticVariation BEFREE Huh7 human hepatoma cells were transiently transfected to overexpress the gain-of-function D374Y PCSK9 mutation, which has been associated with severe hypercholesterolemia in humans. 31564372

2020
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE Additionally, in the entire study group (n=401), PCSK9 R496W and D374Y mutation carriers had increased total cholesterol (p=0.021), triglycerides (p=0.0001), HDL cholesterol (p=0.028), and low-density lipoproteins (LDL) cholesterol (p=0.028) levels. 29724976

2018
dbSNP: rs5742904
rs5742904
APOB
0.100 GeneticVariation BEFREE We identified a set of Mendelian variants that co-occur in individuals with BD more frequently than their unaffected family members, including the R3527Q mutation in APOB associated with hypercholesterolemia. 30315151

2018
dbSNP: rs5742904
rs5742904
APOB
0.100 GeneticVariation BEFREE Three mutations were pathogenic (APOB p.R3527Q) or likely pathogenic (LDLR p.C27W, LDLR p.P526S) for hypercholesterolaemia, while the others were either benign or of unknown significance. 27497240

2016
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE D374Y-PCSK9 transgenic pigs displayed reduced hepatic low-density lipoprotein (LDL) receptor levels, impaired LDL clearance, severe hypercholesterolemia, and spontaneous development of progressive atherosclerotic lesions that could be visualized by noninvasive imaging. 23283366

2013
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.100 GeneticVariation BEFREE D374Y-PCSK9 transgenic pigs displayed reduced hepatic low-density lipoprotein (LDL) receptor levels, impaired LDL clearance, severe hypercholesterolemia, and spontaneous development of progressive atherosclerotic lesions that could be visualized by noninvasive imaging. 23283366

2013
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE The expression of human D374Y PCSK9 at physiological levels produced a phenotype that closely matched that found in heterozygous D374Y patients and suggested that reduced low-density lipoprotein receptor activity is not the sole cause of their hypercholesterolemia. 20448210

2010
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.100 GeneticVariation BEFREE The expression of human D374Y PCSK9 at physiological levels produced a phenotype that closely matched that found in heterozygous D374Y patients and suggested that reduced low-density lipoprotein receptor activity is not the sole cause of their hypercholesterolemia. 20448210

2010
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells stably overexpressing wild-type PCSK9 or gain-of-function PCSK9 mutants associated with hypercholesterolemia (D374Y or S127R). 19224862

2009
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.100 GeneticVariation BEFREE To block secreted PCSK9 activity, LDLR (H306Y) subfragments were added to the medium of HepG2 cells stably overexpressing wild-type PCSK9 or gain-of-function PCSK9 mutants associated with hypercholesterolemia (D374Y or S127R). 19224862

2009
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE PCSK9 mutant proteins associated with hypercholesterolemia (S127R and D374Y) are more potent in decreasing LDL uptake than is wild-type PCSK9. 18354137

2008
dbSNP: rs5742904
rs5742904
APOB
0.100 GeneticVariation BEFREE Using DHPLC, this study revealed that the FDB mutation (R3500Q) is an important contributing factor to hypercholesterolemia observed in a pediatric lipid clinic population. 18222178

2008
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.100 GeneticVariation BEFREE PCSK9 mutant proteins associated with hypercholesterolemia (S127R and D374Y) are more potent in decreasing LDL uptake than is wild-type PCSK9. 18354137

2008
dbSNP: rs137852912
rs137852912
PCSK9
0.100 GeneticVariation BEFREE Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9 missense mutants (S127R and D374Y, associated with hypercholesterolemia, and R46L, associated with hypocholesterolemia) correlate with LDL cholesterol levels in humans carrying such mutations. 17493938

2007