Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs606231193
PQBP1
0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 6
rs1131692227
KDM5C
0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 6
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1057518918
ARID1B
0.882 0.160 6 157184329 frameshift variant C/- delins 6
rs1559296368
ZNF142
1.000 2 218646330 frameshift variant C/- del 4
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs869312713
ANKRD11
0.882 0.320 16 89280070 stop gained C/A snv 6
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs121917915
SCN1A-AS1 ; SCN1A ; LOC102724058
1.000 0.040 2 165994176 missense variant C/A snv 3
rs1043679457
ERCC8
0.752 0.400 5 60927745 intron variant C/A;G;T snv 33
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1034395178
LZTR1
0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 33
rs1448259271
IRF2BPL ; LOC107984638
0.790 0.240 14 77027279 stop gained C/A;T snv 23
rs267606670
ATP1A3
0.790 0.320 19 41968837 missense variant C/A;T snv 19
rs794727792
STXBP1
0.827 0.120 9 127661140 stop gained C/A;T snv 4.0E-06 8
rs132630297
PHF6
0.925 0.280 X 134425256 stop gained C/A;T snv 6
rs876661151
LOC105369668 ; GRIN2B
0.925 0.040 12 13608611 missense variant C/A;T snv 6
rs267608463
MECP2
0.925 0.120 X 154032206 splice donor variant C/A;T snv 5
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9