rs688, LDLR

N. diseases: 16
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 Genetic analyses of diverse populations improves discovery for complex traits. 31217584 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 Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
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 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
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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
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
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.710 GeneticVariation GWASDB Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. 18179892 2008
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project. 22629316 2012
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.020 GeneticVariation BEFREE We did observe a significant association for rs688 within the LDL-R gene with HCV infection (OR: 0.41 P = 0.001), however, LDL cholesterol levels did not vary between individuals carrying the differential SNPs. 30260075 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.020 GeneticVariation BEFREE However, SNPs previously associated with this trait and allocated within the LDLR gene, rs5925 and rs688, were also associated with this condition in our study under a dominant model (24 out of 27 [88.9%] rs5925-C carriers in the HRSN group vs 560 of 804 [69.6%] rs5925-C carriers in the HCV-seropositive group, P = 0.031, odds ratio [OR] = 3.48; 95% confidence interval [CI] = 1.04-11.58; and 24 out of 27 [88.9%] rs688-T carriers in the HRSN group vs 556 of 804 [69.1%] rs688-T carriers in the HCV-seropositive group, P = 0.028, OR = 3.57, 95% CI = 1.65-11.96). 31206233 2019
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE The interaction effects of rs688 C/T with ApoA5 rs662799 A/G and CETP rs708272 C/T promoted the occurrence of IS. 28623937 2017
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.020 GeneticVariation BEFREE Our results not only demonstrated potential interactions of APOE epsilon2/epsilon3/epsilon4 and LDLR C1773T polymorphisms with risk of having ischemic stroke, but also added the evidence of independent role of hypertension and APOE epsilon2/epsilon3/epsilon4 polymorphism in the development of this disorder in Northern Han Chinese. 18851860 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE PECAM-1 Leu125Val (rs688) Polymorphism and Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus. 28116228 2016
Diabetic Nephropathy
CUI: C0011881
Disease: Diabetic Nephropathy
0.010 GeneticVariation BEFREE We analyzed the rs688 single nucleotide polymorphism of <i>PECAM-1</i> gene C373G (Leu125Val) at exon 3, which encodes the first extracellular Ig-like domain that mediates the homophilic binding of PECAM-1, in 276 T2DM subjects with documented DN (cases) and 375 T2DM subjects without DN (controls), using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) strategy. 28116228 2016
Cerebral Infarction
CUI: C0007785
Disease: Cerebral Infarction
0.010 GeneticVariation BEFREE This study aimed to explore 2 genetic LDLR variants, rs688 and rs5925, for their potential roles in cerebral infarction. 22621231 2012
Infarction, Lacunar
CUI: C0333559
Disease: Infarction, Lacunar
0.010 GeneticVariation BEFREE However, when analyzing the association between the haplotypes related to rs688 and rs5925 and cerebral ischemic stroke, the most common haplotype allele CT was used as the reference allele, and the haplotype TC associated with a 65% increased risk of overall ischemic stroke, 72% increased risk of atherothrombotic stroke, and 70% increased risk of lacunar infarction; this indicated a synergistic effect between these 2 single-nucleotide polymorphisms. 22621231 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.010 GeneticVariation BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.010 GeneticVariation BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930 2010
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The aim of this study was to evaluate 3 single nucleotide polymorphisms in SMARCA4-LDLR gene locus (rs1122608, rs2228671, and rs688) and FVIII coagulant activity (FVIII:c) in subjects with (n = 692) or without (n = 291) angiographically confirmed coronary artery disease (CAD). 20810930 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.010 GeneticVariation BEFREE Our results not only demonstrated potential interactions of APOE epsilon2/epsilon3/epsilon4 and LDLR C1773T polymorphisms with risk of having ischemic stroke, but also added the evidence of independent role of hypertension and APOE epsilon2/epsilon3/epsilon4 polymorphism in the development of this disorder in Northern Han Chinese. 18851860 2009
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE Lastly, we evaluated whether rs688 associates with AD by genotyping DNA from 1457 men and 2055 women drawn from three case-control series. 18065781 2008