rs646776, CELSR2

N. diseases: 25
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 GWASDB Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. 23100282 2013
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations. 23236364 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 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
High density lipoprotein 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 GWASCAT Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. 19060910 2009
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. 19060910 2009
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
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
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASDB SNPs rs599839 and rs646776 both explained around 1% of the variation in circulating LDL-cholesterol concentrations and were associated with about 15% of an SD change in LDL cholesterol per allele, assuming an SD of 1 mmol/L. 18262040 2008
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
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE Aim was to estimate the genotypic distribution and risk allele frequencies of 13 Coronary Artery Disease (CAD) risk Single Nucleotide Polymorphisms in loci identified by the CARDIoGRAMplusC4D consortium namely MIA3 rs17465637; 9p21 rs10757274; CXCL12 rs1746048; APOA5 rs662799; APOB rs1042031; LPA rs3798220; LPA 10455872; MRAS rs9818870; LPL rs328; SORT1 rs646776; PCSK9 rs11591147; APOE rs429358; APOE rs7412 in Pakistani PCAD patients and controls. 28705542 2019
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation GWASCAT Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. 28714974 2017
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.720 GeneticVariation BEFREE Both rs646776 and rs599839 were in strong linkage disequilibrium (r = 0.98) and showed significant protective association with CAD (OR = 0.315, 95% CI 0.136-0.728, p<0.007 and OR = 0.422, 95% CI 0.181-0.981, p = 0.045, respectively). 24674750 2014
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Catalase measurement
CUI: C0523550
Disease: Catalase measurement
0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
C-reactive protein measurement
CUI: C0201657
Disease: C-reactive protein measurement
0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Impact of common genetic variation on response to simvastatin therapy among 18 705 participants in the Heart Protection Study. 23100282 2013
Serum HDL cholesterol measurement
CUI: C0428472
Disease: Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
Serum albumin measurement
CUI: C0523465
Disease: Serum albumin measurement
0.700 GeneticVariation GWASDB Genome-wide association study identifies multiple loci influencing human serum metabolite levels. 22286219 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
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.700 GeneticVariation GWASDB Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese. 23103227 2012