Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.070 0.857 7 1997 2010
dbSNP: rs1205538057
rs1205538057
ACE
5 0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1241356540
rs1241356540
ACE
5 0.851 0.160 17 63497137 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1330442011
rs1330442011
ACE
1 1.000 0.080 17 63485024 missense variant A/G snv 1.6E-05; 4.1E-06 3.5E-05 0.010 1.000 1 2014 2014
dbSNP: rs375442845
rs375442845
ACE
1 1.000 0.080 17 63493444 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs4343
rs4343
ACE
14 0.742 0.480 17 63488670 synonymous variant G/A snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs548450663
rs548450663
ACE
1 1.000 0.080 17 63482546 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs775653132
rs775653132
ACE
1 1.000 0.080 17 63485054 missense variant G/A snv 6.7E-05 1.4E-05 0.010 1.000 1 2014 2014