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: rs11077
rs11077
14 0.732 0.320 6 43523209 3 prime UTR variant T/G snv 0.47 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs573335459
rs573335459
2 0.925 0.080 5 132864335 missense variant T/G snv 2.0E-04 1.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs782609889
rs782609889
2 0.925 0.080 X 50916386 missense variant T/G snv 0.010 1.000 1 2006 2006
dbSNP: rs770542892
rs770542892
2 0.925 0.080 5 132862366 synonymous variant T/C;G snv 8.0E-06; 1.6E-05 0.010 1.000 1 2007 2007
dbSNP: rs2234693
rs2234693
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2014 2015
dbSNP: rs1049127
rs1049127
2 0.925 0.080 12 6777854 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs1057516159
rs1057516159
6 0.827 0.240 3 138946383 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1369921577
rs1369921577
1 1.000 0.080 2 48968759 missense variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs141218518
rs141218518
2 0.925 0.080 X 50916009 missense variant T/C snv 2.0E-03 1.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1569788
rs1569788
2 0.925 0.080 6 152007481 intron variant T/C snv 0.39 0.010 1.000 1 2011 2011
dbSNP: rs20558
rs20558
2 0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51 0.010 1.000 1 2012 2012
dbSNP: rs2227914
rs2227914
2 0.925 0.080 22 38538601 missense variant T/C snv 8.6E-03 3.5E-02 0.010 1.000 1 2008 2008
dbSNP: rs4898
rs4898
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.010 1.000 1 2019 2019
dbSNP: rs765967593
rs765967593
2 0.925 0.080 6 32976773 missense variant T/C snv 8.1E-06 0.010 1.000 1 2016 2016
dbSNP: rs770254254
rs770254254
2 0.925 0.080 2 162147505 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2012 2012
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.010 1.000 1 2013 2013
dbSNP: rs12611091
rs12611091
2 0.925 0.080 19 55288961 intron variant T/A;C snv 0.010 1.000 1 2014 2014
dbSNP: rs6944723
rs6944723
2 0.925 0.080 7 33384348 intron variant T/A snv 0.42 0.010 1.000 1 2008 2008
dbSNP: rs1057519602
rs1057519602
1 1.000 0.080 2 200571796 frameshift variant GA/- delins 0.700 0
dbSNP: rs246246
rs246246
3 0.925 0.080 5 129721066 intron variant G/T snv 0.94 0.710 1.000 2 2009 2013
dbSNP: rs10407022
rs10407022
3 0.882 0.200 19 2249478 missense variant G/T snv 0.77 0.74 0.010 < 0.001 1 2013 2013
dbSNP: rs1060505055
rs1060505055
2 0.925 0.080 6 31759476 missense variant G/T snv 0.010 1.000 1 2017 2017
dbSNP: rs146180399
rs146180399
2 0.925 0.080 6 139373341 missense variant G/T snv 1.6E-04 5.2E-04 0.010 1.000 1 2012 2012