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: rs28934906
rs28934906
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs121434613
rs121434613
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs267607048
rs267607048
16 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2008 2008
dbSNP: rs61748420
rs61748420
5 0.851 0.200 X 154031329 missense variant G/A;T snv 0.020 1.000 2 2001 2016
dbSNP: rs863225264
rs863225264
6 0.827 0.240 1 11130747 missense variant C/T snv 0.020 1.000 2 2015 2016
dbSNP: rs10194776
rs10194776
1 2 231115305 intron variant C/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs1047322213
rs1047322213
2 1.000 0.120 X 48902470 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs104886492
rs104886492
3 1.000 0.120 X 53432410 missense variant A/G snv 0.010 1.000 1 2011 2011
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519087
rs1057519087
4 0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131692042
rs1131692042
3 0.925 0.120 X 154399803 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1162306056
rs1162306056
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs121434612
rs121434612
2 1.000 0.080 X 111142119 missense variant C/T snv 0.010 1.000 1 2000 2000
dbSNP: rs121434614
rs121434614
3 0.925 0.200 X 111196570 missense variant G/C snv 0.010 1.000 1 2007 2007
dbSNP: rs121917899
rs121917899
2 1.000 0.080 X 48901944 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs121918523
rs121918523
3 0.925 0.200 X 54016662 stop gained T/A snv 0.010 1.000 1 2007 2007
dbSNP: rs121918524
rs121918524
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs121918822
rs121918822
1 Y 1642868 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs122468181
rs122468181
3 0.925 0.200 X 119837771 stop gained G/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs1249144069
rs1249144069
5 0.925 0.200 10 3165320 missense variant C/T snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs1282813621
rs1282813621
3 0.925 0.200 X 119837956 missense variant C/T snv 4.8E-05 0.010 1.000 1 2010 2010
dbSNP: rs1294642759
rs1294642759
2 1.000 0.080 3 70959372 missense variant C/T snv 0.010 1.000 1 2019 2019