EDN1, endothelin 1, 1906

N. diseases: 679; N. variants: 23
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777234
rs587777234 		1.000 6 12293956 stop gained T/G snv
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED 		0.700 0
dbSNP: rs901425551
rs901425551 		1.000 0.080 6 12294313 missense variant T/C snv
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0013537
Disease: Eclampsia
Eclampsia 		Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2001 2001
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.080 0.875 8 2003 2018
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.020 1.000 2 2008 2009
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0221155
Disease: Systolic hypertension
Systolic hypertension 		Cardiovascular Diseases 0.010 < 0.001 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0002963
Disease: Angina Pectoris, Variant
Angina Pectoris, Variant 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10478723
rs10478723 		6 12295228 intron variant G/A snv 0.15
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1476046
rs1476046 		1.000 0.120 6 12292988 intron variant G/A snv 0.22
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1800542
rs1800542 		6 12292295 intron variant G/A snv 5.6E-02 0.11
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive 		Respiratory Tract Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C4739246
Disease: Apnea+hypopnea
Apnea+hypopnea 		0.010 1.000 1 2009 2009
dbSNP: rs5370
rs5370 		0.630 0.520 6 12296022 missense variant G/T snv 0.23 0.21
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2009 2009