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: rs1060501439
rs1060501439
4 0.925 0.080 14 23424938 missense variant T/A snv 0.700 0
dbSNP: rs397516037
rs397516037
4 0.851 0.120 11 47332189 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs768079285
rs768079285
2 1.000 0.080 10 20840824 frameshift variant T/- delins 8.0E-06 0.700 0
dbSNP: rs869312687
rs869312687
8 0.925 0.080 1 155910695 missense variant T/G snv 0.700 0
dbSNP: rs1333049
rs1333049
60 0.614 0.520 9 22125504 intron variant G/C snv 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.060 1.000 6 1999 2007
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.050 1.000 5 1999 2003
dbSNP: rs397516005
rs397516005
5 0.827 0.120 11 47333566 stop gained G/A snv 8.4E-06 2.8E-05 0.040 1.000 4 2015 2019
dbSNP: rs1801253
rs1801253
34 0.683 0.440 10 114045297 missense variant G/C snv 0.74 0.69 0.030 1.000 3 2008 2014
dbSNP: rs4762
rs4762
AGT
35 0.637 0.440 1 230710231 missense variant G/A snv 0.12 0.11 0.030 1.000 3 1996 2007
dbSNP: rs5443
rs5443
106 0.532 0.760 12 6845711 synonymous variant C/T snv 0.36 0.44 0.030 1.000 3 2002 2005
dbSNP: rs104894503
rs104894503
9 0.776 0.160 15 63060899 missense variant G/A snv 1.6E-05 2.8E-05 0.020 1.000 2 2007 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 1.000 2 2009 2010
dbSNP: rs1042714
rs1042714
54 0.597 0.640 5 148826910 stop gained G/C;T snv 0.68 0.010 1.000 1 2006 2006
dbSNP: rs10500279
rs10500279
1 1.000 0.080 19 38544428 intron variant G/C snv 5.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1050606
rs1050606
2 1.000 0.080 4 121696891 5 prime UTR variant A/C snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs11053646
rs11053646
18 0.724 0.280 12 10160849 missense variant C/G snv 0.11 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1137101
rs1137101
77 0.554 0.760 1 65592830 missense variant A/G snv 0.51 0.50 0.010 1.000 1 2013 2013
dbSNP: rs11549465
rs11549465
55 0.597 0.680 14 61740839 missense variant C/T snv 8.8E-02 7.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs11549467
rs11549467
30 0.653 0.400 14 61740857 missense variant G/A snv 8.9E-03 7.0E-03 0.010 1.000 1 2019 2019
dbSNP: rs1178625972
rs1178625972
1 1.000 0.080 22 39966117 missense variant C/G snv 2.4E-05 1.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs121908596
rs121908596
7 0.807 0.240 15 66436837 missense variant G/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs1277204441
rs1277204441
ACE
2 0.925 0.080 17 63479775 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1349963459
rs1349963459
2 0.925 0.080 14 73170901 missense variant G/T snv 0.010 1.000 1 2017 2017