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: rs104894746
rs104894746
ARX
2 0.925 0.160 X 25010274 stop gained C/A;T snv 0.700 0
dbSNP: rs1057524191
rs1057524191
TBC1D24
3 0.925 0.040 16 2496269 stop gained C/T snv 0.700 0
dbSNP: rs1060502727
rs1060502727
WWOX
2 0.925 0.040 16 78115155 splice donor variant G/C;T snv 4.0E-06 0.700 0
dbSNP: rs1365611175
rs1365611175
ARX
1 1.000 0.040 X 25013654 inframe insertion CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC/-;CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC delins 9.9E-06 0.700 0
dbSNP: rs1555501140
rs1555501140
TBC1D24
3 0.925 0.040 16 2496319 frameshift variant C/- delins 0.700 0
dbSNP: rs1556054888
rs1556054888
ARX
1 1.000 0.040 X 25012956 missense variant A/C snv 0.700 0
dbSNP: rs1556056125
rs1556056125
ARX
1 1.000 0.040 X 25013533 inframe insertion -/GGCCGCGGCCGCGGCTGCCGCGGCGGC delins 0.700 0
dbSNP: rs1556056154
rs1556056154
ARX
2 0.925 0.080 X 25013536 inframe insertion -/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG delins 0.700 0
dbSNP: rs1567413218
rs1567413218
TBC1D24
3 0.925 0.040 16 2498385 stop gained C/G snv 0.700 0
dbSNP: rs1567542020
rs1567542020
WWOX
2 0.925 0.040 16 78386926 stop gained G/T snv 0.700 0
dbSNP: rs1569075471
rs1569075471
SYNJ1
1 1.000 0.040 21 32673466 stop gained G/A snv 0.700 0
dbSNP: rs1569077009
rs1569077009
CSNK1E ; TPTEP2-CSNK1E
1 1.000 0.040 22 38298785 splice donor variant C/T snv 0.700 0
dbSNP: rs201008667
rs201008667
WWOX
2 0.925 0.040 16 78109819 stop gained C/G;T snv 3.2E-05; 3.6E-05 0.700 0
dbSNP: rs387906715
rs387906715
ARX
1 1.000 0.040 X 25004755 missense variant A/T snv 0.700 0
dbSNP: rs398122854
rs398122854
ARX
3 0.882 0.040 X 25015657 stop gained G/C snv 0.700 0
dbSNP: rs398122967
rs398122967
TBC1D24
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 0
dbSNP: rs587783191
rs587783191
ARX
2 0.925 0.160 X 25004894 frameshift variant C/- delins 0.700 0
dbSNP: rs756762196
rs756762196
WWOX
4 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0
dbSNP: rs869312662
rs869312662
ARX
2 1.000 0.040 X 25012988 frameshift variant GTGAAC/TGGTACA delins 0.700 0
dbSNP: rs878855021
rs878855021
WWOX
2 0.925 0.040 16 78425043 stop gained C/G snv 0.700 0
dbSNP: rs886041766
rs886041766
GNAO1 ; DKFZP434H168 ; LOC283856
2 0.925 0.040 16 56192574 missense variant G/A;T snv 0.700 0
dbSNP: rs932485786
rs932485786
ARX
2 1.000 0.040 X 25015654 stop gained G/A;T snv 0.700 0
dbSNP: rs118192197
rs118192197
KCNQ2
1 1.000 0.040 20 63444756 stop gained CGGAGCGCAG/T delins 0.700 1.000 1 2005 2005
dbSNP: rs587777248
rs587777248
WWOX
3 0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06 0.700 1.000 1 2014 2014
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