rs646776, CELSR2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Premature coronary artery atherosclerosis
0.010 GeneticVariation BEFREE The risk allele frequencies (RAF) of APOE rs7412, CXCL12 rs1746048, 9p21 rs10757274, MIA3 rs17465637 and SORT1 rs646776 were significantly higher in the PCAD cases as compared to the controls. 28705542 2019
Peripheral Arterial Diseases
CUI: C1704436
Disease: Peripheral Arterial Diseases
0.010 GeneticVariation BEFREE The present study strongly supports that genotypes of rs599839, rs646776 and rs12740374 on 1p13 are protective factors for diabetic PAD in a Chinese population. 29356453 2018
Coronary Stenosis
CUI: C0242231
Disease: Coronary Stenosis
0.010 GeneticVariation BEFREE We aimed to investigate the association between rs599839, rs646776, and rs4970834 of locus 1p13.3 and serum LDL-C and severity of coronary artery stenosis in ACS patients. 25969834 2015
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.010 GeneticVariation BEFREE We analyzed the relationship between rs599839 and rs646776 single nucleotide polymorphisms (SNPs) present in the CELSR2-PSRC1-SORT1 gene cluster, candidate gene expression, and their association with CAD and circulating lipid levels in a representative cohort of Asian Indians selected from the Indian Atherosclerosis Research Study. 24674750 2014
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.010 GeneticVariation BEFREE We analyzed the relationship between rs599839 and rs646776 single nucleotide polymorphisms (SNPs) present in the CELSR2-PSRC1-SORT1 gene cluster, candidate gene expression, and their association with CAD and circulating lipid levels in a representative cohort of Asian Indians selected from the Indian Atherosclerosis Research Study. 24674750 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.010 GeneticVariation BEFREE To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for common neurodegenerative diseases, we studied 304 patients with Parkinson's disease (PD), 217 individuals with Alzheimer's disease, 131 subjects with mild cognitive impairment, and 126 controls. 23398167 2013
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.010 GeneticVariation BEFREE Reduced circulating GRN levels might be associated with PD risk by pathogenic factors different from rs5848 and rs646776 polymorphisms. 23398167 2013
Neurodegenerative Disorders
CUI: C0524851
Disease: Neurodegenerative Disorders
0.010 GeneticVariation BEFREE To assess the influence of rs5848 and rs646776 polymorphisms in both serum GRN level and risk for common neurodegenerative diseases, we studied 304 patients with Parkinson's disease (PD), 217 individuals with Alzheimer's disease, 131 subjects with mild cognitive impairment, and 126 controls. 23398167 2013
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
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
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
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
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
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
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 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
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
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