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: rs4305
rs4305 		17 63480868 intron variant A/G snv 0.45
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2011 2013
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: 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: 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: rs149155892
rs149155892 		17 63498493 intron variant C/T snv 1.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28730839
rs28730839 		17 63483140 missense variant C/A;G snv 4.0E-06; 4.8E-04
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28730839
rs28730839 		17 63483140 missense variant C/A;G snv 4.0E-06; 4.8E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4293
rs4293 		17 63478305 non coding transcript exon variant G/A snv 0.45
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4295
rs4295 		17 63478937 intron variant C/G snv 0.61
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4295
rs4295 		17 63478937 intron variant C/G snv 0.61
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4308
rs4308 		17 63482264 intron variant A/G snv 0.71
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4329
rs4329 		17 63486097 intron variant A/C;G snv
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4329
rs4329 		17 63486097 intron variant A/C;G snv
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs4344
rs4344 		17 63489363 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4344
rs4344 		17 63489363 intron variant G/A;C snv
CUI: C0010200
Disease: Coughing
Coughing 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs553520266
rs553520266 		17 63479853 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs746566272
rs746566272 		17 63484889 missense variant G/A snv 3.3E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs755506668
rs755506668 		17 63496874 missense variant G/A;T snv 2.8E-05; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs759009903
rs759009903 		17 63484413 missense variant C/G;T snv 1.6E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs765803965
rs765803965 		17 63480345 missense variant G/A snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs9896208
rs9896208 		17 63498748 intron variant T/C snv 0.57
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
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: 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