Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4970834
rs4970834
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0742343
Disease:
Acute Chest Syndrome
0.010 GeneticVariation BEFREE Genotyping of the rs599839, rs646776, and rs4970834 polymorphisms was performed on Arab patients undergoing coronary angiography for ACS. 25969834 2015
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0948089
Disease:
Acute Coronary Syndrome
T 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs7528419
rs7528419
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0948089
Disease:
Acute Coronary Syndrome
G 0.700 GeneticVariation GWASCAT Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. 28753643 2017
dbSNP: rs7528419
rs7528419
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0001948
Disease:
Alcohol consumption
G 0.700 GeneticVariation GWASCAT Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 30698716 2019
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0004238
Disease:
Atrial Fibrillation
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease. 30111768 2018
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0201657
Disease:
C-reactive protein measurement
T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0201657
Disease:
C-reactive protein measurement
T 0.700 GeneticVariation GWASCAT Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation. 27286809 2016
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0523550
Disease:
Catalase measurement
C 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0038454
Disease:
Cerebrovascular accident
0.700 GeneticVariation GWASCAT Pleiotropic Meta-Analyses of Longitudinal Studies Discover Novel Genetic Variants Associated with Age-Related Diseases. 27790247 2016
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE The noncoding single-nucleotide polymorphism rs12740374 has been hypothesized to be the causal variant responsible for liver-specific modulation of <i>SORT1</i>(sortilin 1) expression (ie, expression quantitative trait locus) and, by extension, the association of the <i>SORT1</i> locus on human chromosome 1p13 with low-density lipoprotein cholesterol levels and coronary heart disease. 29097363 2018
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.720 GeneticVariation GWASCAT Genetic analysis in UK Biobank links insulin resistance and transendothelial migration pathways to coronary artery disease. 28714974 2017
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.710 GeneticVariation GWASCAT Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. 30104761 2018