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: 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
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4291
rs4291
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
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: rs4311
rs4311
0.882 0.200 17 63483402 intron variant T/C snv 0.60
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
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: rs4343
rs4343
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2014 2014
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: rs4351
rs4351
0.925 0.160 17 63492371 intron variant G/A snv 0.50
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2013 2013
dbSNP: rs797045079
rs797045079
1.000 0.120 17 63477106 frameshift variant CTCGGGCCGCCGGGGGCCGG/- del 1.4E-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 1.000 1 2012 2012
dbSNP: rs121912703
rs121912703
17 63496977 missense variant C/T snv 3.7E-05 4.9E-05
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: 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