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 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 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 18193044 2008
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB 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
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 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 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
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
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 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 2009
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. 19060911 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
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
Carotid Artery Diseases
CUI: C0007273
Disease: Carotid Artery Diseases
0.010 GeneticVariation BEFREE We found that two loci, chromosome 1p13.3 near CELSR2 and PSRC1 which contains rs646776, and 19q13.2 near TOMM40 and APOE which contains rs2075650, harbor risk alleles for CAAD. 19951432 2009
Frontotemporal Lobar Degeneration
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
0.010 GeneticVariation BEFREE The association of rs646776 with plasma GRN levels was replicated in two independent series of 508 controls (p = 1.9 × 10⁻¹⁹) and 197 FTLD patients (p = 6.4 × 10⁻¹²). 21087763 2010
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation GWASCAT Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. 21239051 2011
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation GWASDB Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. 21347282 2011
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
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
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.830 GeneticVariation GWASDB Large-scale gene-centric analysis identifies novel variants for coronary artery disease. 21966275 2011
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