Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518848
TCF4
0.827 0.240 18 55229003 frameshift variant -/ATTG delins 15
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs879253753
ANKRD11
0.851 0.280 16 89280526 frameshift variant -/T delins 19
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs1557006873
HUWE1
0.925 0.280 X 53615786 missense variant A/C snv 4
rs782393002
HUWE1
0.882 0.280 X 53549413 missense variant A/C;G snv 1.1E-05 6
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1554817910
ZMIZ1
1.000 10 79216266 missense variant A/G snv 4
rs375761808
ARID1A
0.925 0.160 1 26775673 missense variant A/G;T snv 4.0E-06 6
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1057518796
SYNGAP1
1.000 6 33443751 frameshift variant C/- delins 3
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19