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: rs1267969615
rs1267969615
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.060 0.833 6 1999 2011
dbSNP: rs1799752
rs1799752
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.030 1.000 3 2016 2018
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: 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: rs4291
rs4291
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs761401927
rs761401927
0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs767425642
rs767425642
0.882 0.120 17 63489010 missense variant G/A;T snv 3.2E-05; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2008 2008