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: 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: rs1799752
rs1799752
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.030 1.000 3 2009 2016
dbSNP: rs4343
rs4343
0.742 0.480 17 63488670 synonymous variant G/A snv 0.53
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.030 1.000 3 2006 2009
dbSNP: rs4291
rs4291
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.020 1.000 2 2008 2009
dbSNP: rs143830698
rs143830698
0.882 0.120 17 63488659 missense variant G/A snv 8.4E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs4351
rs4351
0.925 0.160 17 63492371 intron variant G/A snv 0.50
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs769397961
rs769397961
0.882 0.120 17 63488758 missense variant G/A snv 1.2E-05 3.5E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs776943620
rs776943620
0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2013 2013