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: rs267608421
rs267608421
2 0.923 0.071 X 18510855 splice donor variant G/T snp 0.700 1 2015 2015
dbSNP: rs10482672
rs10482672
2 0.923 0.071 5 143312968 intron variant G/A snp 0.16 0.010 1.000 1 2012 2012
dbSNP: rs2963155
rs2963155
2 0.923 0.071 5 143376439 intron variant A/G snp 0.26 0.010 1.000 1 2012 2012
dbSNP: rs387906684
rs387906684
4 0.846 0.107 2 165367327 missense variant G/A snp 0.010 1.000 1 2009 2009
dbSNP: rs398122394
rs398122394
4 0.846 0.143 X 111685040 missense variant A/G snp 0.010 1.000 1 2016 2016
dbSNP: rs398122854
rs398122854
ARX
4 0.846 0.071 X 25015657 stop gained G/C snp 0.010 1.000 1 2016 2016
dbSNP: rs4912905
rs4912905
2 0.923 0.071 5 143350811 intron variant G/C snp 0.21 0.010 1.000 1 2012 2012
dbSNP: rs587777308
rs587777308
5 0.821 0.036 5 161873196 missense variant G/A snp 0.010 1.000 1 2016 2016
dbSNP: rs587783200
rs587783200
ARX
2 0.923 0.071 X 25015704 stop gained C/A,G snp 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs6877893
rs6877893
2 0.923 0.071 5 143347628 intron variant G/A snp 0.52 0.010 1.000 1 2012 2012
dbSNP: rs74315390
rs74315390
11 0.744 0.107 20 63439609 missense variant C/G,T snp 0.010 < 0.001 1 2016 2016
dbSNP: rs760270633
rs760270633
2 0.923 0.036 9 128220201 missense variant C/T snp 0.010 1.000 1 2016 2016
dbSNP: rs796052491
rs796052491
3 0.878 0.036 5 161890982 missense variant T/A,C snp 0.010 1.000 1 2016 2016
dbSNP: rs796053134
rs796053134
4 0.846 0.071 2 165374737 missense variant T/C snp 0.010 < 0.001 1 2016 2016