Source: ALL
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: rs104894741
rs104894741
ARX
1 1.000 0.160 X 25012967 missense variant A/T snv 0.800 1.000 2 2002 2004
dbSNP: rs111033612
rs111033612
ARX
1 1.000 0.160 X 25013000 missense variant C/A;T snv 0.800 1.000 2 2002 2004
dbSNP: rs104894740
rs104894740
ARX
1 1.000 0.160 X 25010262 stop gained G/A snv 0.700 0
dbSNP: rs1328291159
rs1328291159
ARX
1 1.000 0.160 X 25007372 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1556046904
rs1556046904
ARX
1 1.000 0.160 X 25004889 coding sequence variant -/CATTGTGGAAAAGAGCCTGCAGGGAGAGCAAACAGCGCGGTCATGGCCTCGGGAGCTGTGCGCGGCGCCTCGGGCAGCGTCTCCCGCCGCTTGTCGCCGGGGC delins 0.700 0
dbSNP: rs1556049694
rs1556049694
ARX
1 1.000 0.160 X 25007418 frameshift variant C/- delins 0.700 0
dbSNP: rs1556056131
rs1556056131
ARX
1 1.000 0.160 X 25013533 inframe insertion -/GCGGCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG delins 0.700 0
dbSNP: rs267606666
rs267606666
ARX
1 1.000 0.160 X 25013763 stop gained C/A snv 0.700 0
dbSNP: rs387906492
rs387906492
ARX
3 0.882 0.160 X 25013660 inframe insertion CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC delins 0.700 0
dbSNP: rs398124510
rs398124510
ARX
3 0.882 0.160 X 25013531 inframe insertion GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC delins 6.8E-04 0.700 0
dbSNP: rs587783183
rs587783183
ARX
1 1.000 0.160 X 25007438 missense variant A/T snv 0.700 0
dbSNP: rs587783184
rs587783184
ARX
1 1.000 0.160 X 25007425 missense variant G/T snv 0.700 0
dbSNP: rs587783187
rs587783187
ARX
1 1.000 0.160 X 25007187 frameshift variant C/- delins 0.700 0
dbSNP: rs587783189
rs587783189
ARX
1 1.000 0.160 X 25007145 stop gained G/A snv 0.700 0
dbSNP: rs587783191
rs587783191
ARX
2 0.925 0.160 X 25004894 frameshift variant C/- delins 0.700 0
dbSNP: rs587783199
rs587783199
ARX
1 1.000 0.160 X 25013627 frameshift variant GTGGACCCGCCGTGGCCGTGGCGGCCGCTGCCGC/- delins 0.700 0
dbSNP: rs587783202
rs587783202
ARX
1 1.000 0.160 X 25013378 frameshift variant C/- delins 0.700 0
dbSNP: rs746120093
rs746120093
ARX
1 1.000 0.160 X 25004798 missense variant C/T snv 2.7E-05 1.9E-05 0.700 0
dbSNP: rs797045289
rs797045289
ARX
1 1.000 0.160 X 25010283 frameshift variant C/- delins 0.700 0
dbSNP: rs797045290
rs797045290
ARX
1 1.000 0.160 X 25007394 frameshift variant -/TGCTT delins 0.700 0
dbSNP: rs797045291
rs797045291
ARX
1 1.000 0.160 X 25007221 frameshift variant -/G delins 0.700 0
dbSNP: rs797045292
rs797045292
ARX
1 1.000 0.160 X 25004887 frameshift variant -/G delins 0.700 0
dbSNP: rs797045298
rs797045298
ARX
1 1.000 0.160 X 25013585 frameshift variant -/C delins 0.700 0
dbSNP: rs797045303
rs797045303
ARX
1 1.000 0.160 X 25013432 stop gained GC/TA mnv 0.700 0
dbSNP: rs886043552
rs886043552
ARX
1 1.000 0.160 X 25013205 frameshift variant G/- delins 0.700 0