Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs1131692231
CYFIP2
0.827 0.280 5 157294834 missense variant C/T snv 13
rs1556914274
HUWE1
0.790 0.440 X 53537626 missense variant G/A snv 13
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1555103652
GRIN2B
0.882 0.240 12 13569973 missense variant A/C snv 11
rs794727774
FUCA1
0.827 0.240 1 23848684 stop gained C/T snv 11
rs1553511224
TBR1
0.882 0.080 2 161423825 frameshift variant -/C delins 10
rs1555483699
GRIN2A
0.851 0.120 16 9768994 missense variant C/T snv 10
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1325394060
HUWE1
0.851 0.320 X 53534144 missense variant C/G;T snv 9.5E-06 9
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv 8
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1556913258
HUWE1
0.851 0.280 X 53536580 missense variant G/C snv 7
rs1556978515
HUWE1
0.851 0.280 X 53591113 missense variant T/C snv 7
rs1557024919
HUWE1
0.925 0.240 X 53634235 splice donor variant C/G snv 7
rs1557036757
HUWE1
0.925 0.240 X 53647375 missense variant G/A snv 7
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
rs1556912828
HUWE1
0.925 0.280 X 53536209 missense variant G/C snv 6
rs1556913268
HUWE1
0.851 0.240 X 53536600 missense variant T/A snv 6
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs879253767
SCN2A
0.882 0.080 2 165313738 frameshift variant T/- delins 6