Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 36
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1555454508
SPG11
0.790 0.240 15 44615487 stop gained GTA/ATC mnv 18
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs1555038029
KMT2A
0.776 0.400 11 118477973 stop gained C/A snv 12
rs387907329
WDR45 ; PRAF2
0.827 0.200 X 49075573 stop gained G/A;T snv 5.5E-06 10
rs730882249
AP4M1
0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 6
rs797045905
ZRANB3 ; RAB3GAP1
0.851 0.360 2 135164629 stop gained T/G snv 5
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs34757931
VPS11
0.742 0.360 11 119081189 missense variant T/G snv 1.2E-04 5.6E-05 26
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs529855742
SGSH
0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 15
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs1172486173
MIR6890 ; QARS1
0.882 0.160 3 49099606 missense variant T/C snv 4.0E-06 11
rs1557612048
ARID1A
0.807 0.200 1 26767868 missense variant T/C snv 11
rs185476065
MIR6890 ; QARS1
0.882 0.160 3 49100222 missense variant G/A;C;T snv 8.0E-05; 4.0E-06 11
rs672601368
KIF1A
0.827 0.160 2 240785062 missense variant C/G;T snv 10