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: rs28935479
rs28935479
ARX
1 1.000 0.080 X 25013139 missense variant C/T snv 6.5E-06 0.800 1.000 1 2002 2002
dbSNP: rs28936077
rs28936077
ARX
1 1.000 0.080 X 25015640 missense variant A/G snv 0.800 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 1.000 8 2002 2015
dbSNP: rs398124510
rs398124510
ARX
3 0.882 0.160 X 25013531 inframe insertion GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC delins 6.8E-04 0.700 1.000 8 2002 2015
dbSNP: rs387906493
rs387906493
ARX
3 0.882 0.120 X 25013544 inframe insertion GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC delins 0.700 1.000 5 2006 2015
dbSNP: rs1556056154
rs1556056154
ARX
2 0.925 0.080 X 25013536 inframe insertion -/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG delins 0.700 0
dbSNP: rs1569394026
rs1569394026
ARX
1 1.000 0.080 X 25007176 frameshift variant AGCGGCGCCC/- delins 0.700 0