Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		0.830 GeneticVariation BEFREE In UK non CHD, UK CHD, Pakistani non CHD and Pakistani CHD respectively, for rs646776, per risk allele increase in LDL-C(mmol/l) was 0.18(0.04), 0.06(0.11), 0.15(0.04) and 0.27(0.06) respectively. 27112212 2016
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		0.830 GeneticVariation BEFREE No significant associations were observed between the other two SNPs in loci 1p13 (rs599839 and rs646776) and CHD mortality in either gender. 24728607 2014
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		T 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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		T 0.830 GeneticVariation GWASCAT A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		T 0.830 GeneticVariation GWASDB A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. 21378988 2011
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		0.830 GeneticVariation GWASDB Large-scale gene-centric analysis identifies novel variants for coronary artery disease. 21966275 2011
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
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
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		0.810 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: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		T 0.810 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: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0027051
Disease:
Myocardial Infarction 		0.810 GeneticVariation BEFREE Three SNPs 12740374 G/T, rs599839A/G and rs646776T/C mapping at 1p13 were analysed for association with serum lipid levels and the risk of MI by a weighted least square regression and logistic regression analyses, respectively. 23067240 2012
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		T 0.810 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
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0027051
Disease:
Myocardial Infarction 		T 0.810 GeneticVariation GWASCAT Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0027051
Disease:
Myocardial Infarction 		T 0.810 GeneticVariation GWASDB Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. 19198609 2009
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. 31393916 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. 30718733 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetically regulated gene expression underlies lipid traits in Hispanic cohorts. 31393916 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. 31675503 2019
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.800 GeneticVariation GWASCAT Genetic analyses of diverse populations improves discovery for complex traits. 31217584 2019
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. 30926973 2019