ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
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: rs1042309696
rs1042309696 		17 63487006 synonymous variant T/C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1042309696
rs1042309696 		17 63487006 synonymous variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1156835126
rs1156835126 		17 63477230 missense variant G/A snv 4.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1157043147
rs1157043147 		1.000 0.120 17 63477150 missense variant T/C snv 2.8E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1181835738
rs1181835738 		17 63490971 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1205538057
rs1205538057 		0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		0.020 1.000 2 2008 2009
dbSNP: rs1205538057
rs1205538057 		0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
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 2012 2012
dbSNP: rs1205538057
rs1205538057 		0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1205538057
rs1205538057 		0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1205538057
rs1205538057 		0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs121912703
rs121912703 		17 63496977 missense variant C/T snv 3.7E-05 4.9E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121912703
rs121912703 		17 63496977 missense variant C/T snv 3.7E-05 4.9E-05
CUI: C1862874
Disease: ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE 		0.700 0
dbSNP: rs121912704
rs121912704 		1.000 0.120 17 63480479 stop gained C/A;G;T snv 2.0E-05; 4.0E-06
CUI: C0266313
Disease: Allanson Pantzar McLeod syndrome
Allanson Pantzar McLeod syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1221928144
rs1221928144 		1.000 0.040 17 63477950 missense variant G/A;C snv 8.2E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1241356540
rs1241356540 		0.851 0.160 17 63497137 missense variant C/T snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1241356540
rs1241356540 		0.851 0.160 17 63497137 missense variant C/T snv
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 2006 2006
dbSNP: rs1241356540
rs1241356540 		0.851 0.160 17 63497137 missense variant C/T snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1241356540
rs1241356540 		0.851 0.160 17 63497137 missense variant C/T snv
CUI: C0730285
Disease: Diabetic macular edema
Diabetic macular edema 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1241356540
rs1241356540 		0.851 0.160 17 63497137 missense variant C/T snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 0.786 28 1997 2015
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.100 0.846 13 1994 2014
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.100 0.909 11 1996 2009
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.100 0.800 10 1995 2007
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.080 1.000 8 1999 2014
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.080 0.875 8 1997 2007