EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777231
rs587777231
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C3810332
Disease:
AURICULOCONDYLAR SYNDROME 3 		0.800 GeneticVariation UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
dbSNP: rs587777232
rs587777232
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C3810332
Disease:
AURICULOCONDYLAR SYNDROME 3 		0.800 GeneticVariation UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
dbSNP: rs587777233
rs587777233
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		0.800 GeneticVariation UNIPROT Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. 24268655 2013
dbSNP: rs587777231
rs587777231
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C3810332
Disease:
AURICULOCONDYLAR SYNDROME 3 		G 0.800 CausalMutation CLINVAR
dbSNP: rs587777232
rs587777232
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C3810332
Disease:
AURICULOCONDYLAR SYNDROME 3 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777233
rs587777233
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1630736
rs1630736
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1794849
rs1794849
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0009402
Disease:
Colorectal Carcinoma 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0007102
Disease:
Malignant tumor of colon 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0009404
Disease:
Colorectal Neoplasms 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs2070699
rs2070699
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		T 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs1629862
rs1629862
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C1956346
Disease:
Coronary Artery Disease 		A 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs10478730
rs10478730
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10478730
rs10478730
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
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
dbSNP: rs10478730
rs10478730
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10478730
rs10478730
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs10478730
rs10478730
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
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
dbSNP: rs587777234
rs587777234
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C2748545
Disease:
QUESTION MARK EARS, ISOLATED 		G 0.700 CausalMutation CLINVAR
dbSNP: rs5370
rs5370
Entrez Id: 1906
Gene Symbol: EDN1
EDN1
CUI: C0020538
Disease:
Hypertensive disease 		0.080 GeneticVariation BEFREE Our results revealed that <i>EDN1</i> rs5370 polymorphism was associated with LAS development both before and after adjustment for atherosclerosis risk factors (sex, age, body mass index, arterial hypertension, type 2 diabetes mellitus, and smoking). 29849817 2018