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: rs1555952078
rs1555952078
1 1.000 0.040 X 18604516 frameshift variant C/- delins 0.700 0
dbSNP: rs1555954752
rs1555954752
1 1.000 0.040 X 18625224 frameshift variant -/CAGATCT delins 0.700 0
dbSNP: rs267608421
rs267608421
2 0.925 0.160 X 18510855 splice donor variant G/T snv 0.700 0
dbSNP: rs267608618
rs267608618
2 0.925 0.160 X 18604162 stop gained C/A;G snv 0.700 0
dbSNP: rs913477149
rs913477149
13 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
dbSNP: rs104894743
rs104894743
ARX
7 0.807 0.200 X 25012937 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs11872992
rs11872992
4 0.851 0.160 18 60373354 intron variant G/A snv 0.12 0.010 1.000 1 2007 2007
dbSNP: rs387906684
rs387906684
4 0.851 0.120 2 165367327 stop gained G/A;T snv 0.020 1.000 2 2009 2015
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs10482672
rs10482672
2 0.925 0.080 5 143312968 intron variant G/A snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs267608472
rs267608472
3 0.882 0.160 X 18579965 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs267608493
rs267608493
5 0.827 0.200 X 18584331 missense variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2963155
rs2963155
3 0.882 0.160 5 143376439 intron variant A/G snv 0.24 0.010 1.000 1 2012 2012
dbSNP: rs4912905
rs4912905
3 0.925 0.080 5 143350811 intron variant G/C snv 0.20 0.010 1.000 1 2012 2012
dbSNP: rs6877893
rs6877893
2 0.925 0.080 5 143347628 intron variant G/A snv 0.52 0.010 1.000 1 2012 2012
dbSNP: rs13397210
rs13397210
2 0.925 0.080 2 166065518 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs760543
rs760543
2 0.925 0.080 22 33435602 intron variant C/T snv 0.38 0.010 1.000 1 2014 2014
dbSNP: rs1057520644
rs1057520644
2 1.000 0.040 X 71110964 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs242948
rs242948
2 0.925 0.080 17 45836178 intron variant G/C;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1060499553
rs1060499553
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs370114048
rs370114048
3 0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs398122394
rs398122394
17 0.763 0.240 X 111685040 missense variant A/G snv 0.710 1.000 1 2016 2016
dbSNP: rs587777308
rs587777308
14 0.763 0.040 5 161873196 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs74315390
rs74315390
8 0.790 0.120 20 63439609 missense variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs760270633
rs760270633
2 0.925 0.040 9 128220201 missense variant C/T snv 0.010 1.000 1 2016 2016