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 0.020 1.000 2 2012 2019
dbSNP: rs1799752
rs1799752
ACE
25 0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins 0.020 1.000 2 2010 2016
dbSNP: rs1455404812
rs1455404812
ACE
2 1.000 0.080 17 63488732 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs4341
rs4341
ACE
1 1.000 0.080 17 63488629 3 prime UTR variant G/C snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs779175881
rs779175881
ACE
2 1.000 0.080 17 63496959 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs980857256
rs980857256
ACE
1 1.000 0.080 17 63485015 stop gained C/T snv 8.2E-06 6.3E-05 0.010 1.000 1 2015 2015