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: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.710 1.000 4 2002 2013
dbSNP: rs727504317
rs727504317
6 0.807 0.320 15 66435145 missense variant G/A snv 0.710 1.000 3 2007 2016
dbSNP: rs121913357
rs121913357
12 0.742 0.320 7 140781603 stop gained C/A;G;T snv 0.710 1.000 2 2002 2015
dbSNP: rs7086803
rs7086803
9 0.763 0.160 10 112738717 intron variant G/A snv 0.20 0.710 1.000 2 2015 2019
dbSNP: rs10023113
rs10023113
1 1.000 0.080 4 113625548 intron variant A/G snv 0.18 0.710 1.000 1 2015 2015
dbSNP: rs41997
rs41997
1 1.000 0.080 7 118351841 intron variant A/G snv 0.27 0.710 1.000 1 2012 2012
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 12 2004 2014
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 11 2004 2012
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 11 2004 2012
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 9 1984 2014
dbSNP: rs727503093
rs727503093
2 0.925 0.160 11 533881 missense variant C/T snv 0.700 1.000 9 1982 2011
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 7 1998 2010
dbSNP: rs397516896
rs397516896
11 0.763 0.360 7 140753355 missense variant C/G;T snv 0.700 1.000 7 2002 2010
dbSNP: rs727502902
rs727502902
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs121913418
rs121913418
3 0.882 0.160 7 55174818 missense variant G/A;T snv 0.700 1.000 5 2006 2014
dbSNP: rs397516981
rs397516981
1 1.000 0.080 17 39724748 inframe insertion -/GGGCTCCCC delins 0.700 1.000 5 2005 2012
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 1.000 4 2002 2008
dbSNP: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 4 2002 2013
dbSNP: rs121913369
rs121913369
12 0.790 0.280 7 140753346 missense variant G/A;C snv 4.0E-06 0.700 1.000 4 2004 2012
dbSNP: rs727503108
rs727503108
3 0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 0.700 1.000 4 2006 2013
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 3 2002 2008
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 3 2002 2013
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.700 1.000 3 2002 2009
dbSNP: rs121913255
rs121913255
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 3 2002 2013
dbSNP: rs121913348
rs121913348
20 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 3 2002 2010