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: 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: rs80338796
rs80338796
37 0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06 0.700 1.000 2 2007 2007
dbSNP: rs142698837
rs142698837
TG
5 0.851 0.080 8 132869781 missense variant G/A snv 7.6E-04 7.0E-04 0.700 0
dbSNP: rs1554032789
rs1554032789
13 0.925 0.160 5 37048547 missense variant T/A snv 0.700 0
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.050 1.000 5 2002 2016
dbSNP: rs121918368
rs121918368
3 0.925 0.200 3 3150939 stop gained G/A snv 8.0E-06 7.0E-06 0.030 1.000 3 2008 2015
dbSNP: rs121434613
rs121434613
4 0.882 0.240 X 111194402 missense variant C/A snv 0.020 1.000 2 2003 2020
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: rs745756308
rs745756308
2 1.000 2 138013874 missense variant T/C snv 4.0E-06 0.020 1.000 2 2015 2017
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: rs10410239
rs10410239
2 1.000 0.200 19 13919876 synonymous variant T/C snv 0.27 0.38 0.010 1.000 1 2012 2012
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: rs1052108705
rs1052108705
3 6 31165217 missense variant C/T snv 4.1E-06 2.1E-05 0.010 1.000 1 2019 2019
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: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2010 2010
dbSNP: rs115466046
rs115466046
2 1 160042480 missense variant C/T snv 1.2E-02 1.1E-02 0.010 1.000 1 2011 2011
dbSNP: rs1162306056
rs1162306056
5 0.882 0.080 8 132174294 missense variant C/T snv 0.010 1.000 1 2015 2015