rs646776, CELSR2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation GWASDB A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
High density lipoprotein 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 GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
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
High density lipoprotein measurement
0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
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
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
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation BEFREE Five single-nucleotide polymorphisms, rs4977574 (CDKN2A/2B), rs12526453 (PHACTR1), rs646776 (CELSR2-PSRC1-SORT1), rs2259816 (HNF1A), and rs11206510 (PCSK9) showed directionally consistent associations with CHD in the 3 studies, with combined odds ratios (ORs) ranging from 1.17 to 1.25 (p = 0.03 to 0.0002). 22152955 2011
Lipids measurement
CUI: C0523744
Disease: Lipids measurement
0.700 GeneticVariation GWASCAT Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. 19936222 2009
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
Low density lipoprotein cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 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
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
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
0.800 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
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
Pseudocholinesterase Measurement
CUI: C1168443
Disease: Pseudocholinesterase Measurement
0.700 GeneticVariation GWASDB Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. 21943158 2011
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
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
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. 19060910 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.810 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
0.810 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009