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: rs6265
rs6265
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.090 1.000 9 2009 2018
dbSNP: rs759834365
rs759834365
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.090 1.000 9 2009 2018
dbSNP: rs1360780
rs1360780
31 0.708 0.320 6 35639794 intron variant T/A;C snv 0.030 1.000 3 2010 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.030 1.000 3 2017 2018
dbSNP: rs1042713
rs1042713
63 0.576 0.800 5 148826877 missense variant G/A snv 0.42 0.43 0.020 1.000 2 2001 2006
dbSNP: rs53576
rs53576
42 0.641 0.320 3 8762685 intron variant A/G;T snv 0.020 1.000 2 2012 2018
dbSNP: rs110402
rs110402
12 0.790 0.120 17 45802681 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs1143643
rs1143643
10 0.790 0.320 2 112830725 intron variant C/T snv 0.29 0.010 1.000 1 2016 2016
dbSNP: rs145579007
rs145579007
ACE
2 0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04 0.010 1.000 1 2001 2001
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 1.000 1 2016 2016
dbSNP: rs1799722
rs1799722
4 0.882 0.240 14 96204802 5 prime UTR variant C/T snv 0.41 0.39 0.010 1.000 1 2018 2018
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2012 2012
dbSNP: rs1861494
rs1861494
15 0.716 0.400 12 68157629 intron variant C/T snv 0.75 0.010 1.000 1 2015 2015
dbSNP: rs222747
rs222747
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.010 1.000 1 2018 2018
dbSNP: rs2228305
rs2228305
3 0.925 0.120 17 82084916 missense variant C/T snv 4.1E-02 4.5E-02 0.010 1.000 1 2011 2011
dbSNP: rs2430561
rs2430561
50 0.590 0.760 12 68158742 intron variant T/A snv 0.36 0.010 1.000 1 2015 2015
dbSNP: rs3087879
rs3087879
2 0.925 0.080 9 4586808 3 prime UTR variant G/C snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs324981
rs324981
18 0.724 0.320 7 34778501 missense variant A/T snv 0.44 0.47 0.010 1.000 1 2018 2018
dbSNP: rs3792738
rs3792738
1 1.000 0.040 5 76951959 upstream gene variant C/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs439401
rs439401
8 0.851 0.200 19 44911194 non coding transcript exon variant T/C snv 0.68 0.010 1.000 1 2011 2011
dbSNP: rs5479
rs5479
3 0.925 0.080 16 67435830 synonymous variant C/A;G;T snv 5.4E-02; 8.0E-06; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs56149945
rs56149945
49 0.595 0.680 5 143399752 missense variant T/A;C snv 2.0E-02 0.010 1.000 1 2013 2013
dbSNP: rs56303414
rs56303414
2 0.925 0.080 16 67432532 intron variant C/G snv 0.55 0.010 1.000 1 2015 2015
dbSNP: rs750712925
rs750712925
ACE
2 0.925 0.080 17 63477227 missense variant G/A;C;T snv 3.2E-05 0.010 1.000 1 2001 2001