Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C3150834
Disease:
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs561330579
rs561330579
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0557874
Disease:
Global developmental delay 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs561330579
rs561330579
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1843367
Disease:
Poor school performance 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs773722162
rs773722162
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0431565
Disease:
Hamartoma of tongue 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR
dbSNP: rs773722162
rs773722162
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1850256
Disease:
Median cleft lip 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR
dbSNP: rs773722162
rs773722162
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0424503
Disease:
Dysmorphic facies 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR
dbSNP: rs773722162
rs773722162
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0265553
Disease:
Polysyndactyly 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR
dbSNP: rs773722162
rs773722162
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C4551492
Disease:
Micropenis 		TGAGGAGGAAGAA 0.700 GeneticVariation CLINVAR
dbSNP: rs611917
rs611917
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1956346
Disease:
Coronary Artery Disease 		0.010 GeneticVariation BEFREE CAD association was replicated and/or verified for 4 loci: SORT1 rs611917 (p=1.7 × 10(-8)), APOA5 rs662799 (p=0.0014), LDLR rs1433099 (p=2.1 × 10(-7)), and APOE rs7412 (p=6.1 × 10(-13)). 23050023 2012
dbSNP: rs7528419
rs7528419
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0027051
Disease:
Myocardial Infarction 		A 0.700 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
dbSNP: rs7528419
rs7528419
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease. 26343387 2015
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0010068
Disease:
Coronary heart disease 		0.800 GeneticVariation GWASDB A genome-wide association study for coronary artery disease identifies a novel susceptibility locus in the major histocompatibility complex. 22319020 2012
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: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs12740374
rs12740374
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs629301
rs629301
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0392885
Disease:
High density lipoprotein measurement 		G 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0392885
Disease:
High density lipoprotein measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs646776
rs646776
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		C 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs660240
rs660240
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs660240
rs660240
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.800 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018