Gene: LDLR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs688
rs688
LDLR
0.710 GeneticVariation BEFREE In a previous study, analysis of the genetic LDLR variant rs688 provided evidence suggesting that genetic polymorphisms of rs688 are associated with thrombotic cardiovascular diseases. 24295502

2014
dbSNP: rs688
rs688
LDLR
0.710 GeneticVariation GWASDB Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 18179892

2008
dbSNP: rs397509365
rs397509365
LDLR
0.020 GeneticVariation BEFREE The N543H/2393del9 mutation was associated with a less deteriorated lipid profile and the parents had less often CVD relative to parents with other mutations (RR, 0.39; 95% CI, 0.20-0.78; p=0.008). 15823280

2005
dbSNP: rs397509365
rs397509365
LDLR
0.020 GeneticVariation BEFREE After exclusion of families with the N543H/2393del9 mutation, null alleles and other allele mutations no longer differed with regard to LDL cholesterol levels and CVD risk. 12473547

2002
dbSNP: rs759003763
rs759003763
LDLR ; MIR6886
0.010 GeneticVariation BEFREE The N342S variant was not associated with changes of the plasma lipid profile among GG, AG or AA carriers, including total cholesterol (249±21, 249±19 and 248±21 mg/dl respectively), LDL-C (158±25, 161±22 and 160±23 mg/dL), cIMT (0.74±0.14, 0.75±0.17 and 0.77±0.15 mm) and CVD incidence. 25927920

2015
dbSNP: rs879254850
rs879254850
LDLR ; MIR6886
0.010 GeneticVariation BEFREE The N342S variant was not associated with changes of the plasma lipid profile among GG, AG or AA carriers, including total cholesterol (249±21, 249±19 and 248±21 mg/dl respectively), LDL-C (158±25, 161±22 and 160±23 mg/dL), cIMT (0.74±0.14, 0.75±0.17 and 0.77±0.15 mm) and CVD incidence. 25927920

2015
dbSNP: rs879254925
rs879254925
LDLR ; MIR6886
0.010 GeneticVariation BEFREE The D374Y gain-of-function mutant, associated with hypercholesterolemia and early-onset cardiovascular disease, binds the receptor 25 times more tightly than wild-type PCSK9 at neutral pH and remains exclusively in a high-affinity complex at the acidic pH. 17435765

2007
dbSNP: rs544456198
rs544456198
LDLR
0.010 GeneticVariation BEFREE We investigated the G501C mutation in the OLR1 gene in 235 Japanese patients with ischemic cerebrovascular disease (CVD) and 274 age- and sex-matched healthy controls using single nucleotide primer extension analysis (SNuPe). 17022953

2006
dbSNP: rs752596535
rs752596535
LDLR
0.010 GeneticVariation BEFREE We investigated the G501C mutation in the OLR1 gene in 235 Japanese patients with ischemic cerebrovascular disease (CVD) and 274 age- and sex-matched healthy controls using single nucleotide primer extension analysis (SNuPe). 17022953

2006