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: 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: rs387906576
rs387906576 		1.000 0.120 17 63482666 frameshift variant TGGA/- del
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: rs397514688
rs397514688 		1.000 0.120 17 63483172 stop gained C/T snv 1.2E-05 2.8E-05
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: rs397514689
rs397514689 		1.000 0.120 17 63488713 stop gained C/T snv 1.6E-05
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: rs778390161
rs778390161 		1.000 0.120 17 63490953 splice acceptor variant G/A snv 4.0E-06 7.0E-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: rs779188587
rs779188587 		1.000 0.120 17 63496517 splice donor variant G/A;C snv 2.0E-05
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: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		Eye Diseases 0.010 1.000 1 1995 1995
dbSNP: rs371010069
rs371010069 		1.000 0.040 17 63486654 missense variant G/A snv 2.4E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		0.010 < 0.001 1 1996 1996
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 < 0.001 1 1997 1997
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.020 < 0.001 2 1997 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0162770
Disease: Right Ventricular Hypertrophy
Right Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142677199
rs142677199 		0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142677199
rs142677199 		0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142677199
rs142677199 		0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs142677199
rs142677199 		0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs568401628
rs568401628 		0.882 0.120 17 63497280 missense variant C/T snv 4.5E-05 7.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs761401927
rs761401927 		0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs761401927
rs761401927 		0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999