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: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2003 2003
dbSNP: rs4362
rs4362
0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs538166970
rs538166970
0.925 0.080 17 63496920 missense variant G/A;C snv 1.6E-05; 4.0E-06
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs867394500
rs867394500
0.851 0.080 17 63477301 missense variant G/T snv
CUI: C0035078
Disease: Kidney Failure
Kidney Failure
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2003 2003