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: rs11178998
rs11178998
1 1.000 0.040 12 71938935 5 prime UTR variant A/G snv 5.7E-02 0.010 1.000 1 2016 2016
dbSNP: rs1130214
rs1130214
12 0.742 0.280 14 104793397 5 prime UTR variant C/A snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs1131339
rs1131339
2 0.925 0.080 9 99865020 3 prime UTR variant A/G snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs11487077
rs11487077
1 1.000 0.040 7 103105631 intron variant A/C snv 6.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs1156044
rs1156044
1 1.000 0.040 18 9102142 upstream gene variant G/A;C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs11600996
rs11600996
4 1.000 0.040 11 13374619 intron variant T/C snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs11649476
rs11649476
2 0.925 0.080 16 70702849 intron variant C/T snv 0.33 0.010 1.000 1 2019 2019
dbSNP: rs1176744
rs1176744
19 0.708 0.240 11 113932306 missense variant A/C snv 0.33 0.36 0.010 1.000 1 2012 2012
dbSNP: rs11789399
rs11789399
5 0.882 0.040 9 118597008 intergenic variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs11805078
rs11805078
1 1.000 0.040 1 116381693 intron variant C/T snv 8.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs1194897557
rs1194897557
7 0.827 0.240 1 11796276 missense variant A/G snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1202874
rs1202874
1 1.000 0.040 X 151179756 intron variant C/G;T snv 7.0E-06; 0.83 0.010 1.000 1 2010 2010
dbSNP: rs121912734
rs121912734
2 0.925 0.120 12 110339638 missense variant T/C snv 0.010 1.000 1 2016 2016
dbSNP: rs12201676
rs12201676
4 0.925 0.040 6 89022382 regulatory region variant T/C snv 0.21 0.010 1.000 1 2010 2010
dbSNP: rs12426318
rs12426318
1 1.000 0.040 12 102241743 non coding transcript exon variant C/A snv 0.18 0.010 1.000 1 2011 2011
dbSNP: rs12456492
rs12456492
3 0.882 0.080 18 43093415 intron variant A/G snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs12476147
rs12476147
4 0.851 0.040 2 184936178 missense variant A/T snv 0.66 0.59 0.010 1.000 1 2014 2014
dbSNP: rs1249624
rs1249624
1 1.000 0.040 18 11855801 intron variant C/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs12649507
rs12649507
4 0.851 0.080 4 55514317 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs1276624859
rs1276624859
3 0.925 0.080 8 38057134 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1293651
rs1293651
1 1.000 0.040 11 98024776 intergenic variant G/A;C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1327836
rs1327836
1 1.000 0.040 9 74677373 intron variant T/G snv 0.29 0.010 1.000 1 2015 2015
dbSNP: rs1333045
rs1333045
14 0.776 0.280 9 22119196 non coding transcript exon variant T/C snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs1333048
rs1333048
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.010 1.000 1 2020 2020