Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs967738491
PTPN23
0.925 0.040 3 47410478 missense variant C/T snv 4.2E-06 3.5E-05 2
rs926027867
CAMK2A
0.882 0.040 5 150251808 missense variant G/A;T snv 12
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv 3
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs886043303
CEP290
0.851 0.200 12 88120121 frameshift variant CTCT/- delins 7.0E-06 5
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs886041459
TUBB3
0.925 0.080 16 89935140 missense variant C/T snv 3
rs886041125
ANKRD11
0.807 0.440 16 89284635 frameshift variant GTTTT/- delins 7.0E-06 12
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 13
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11
rs886041093
EHMT1
0.827 0.280 9 137815998 missense variant G/A snv 7
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs886039779
SON
0.925 0.120 21 33557227 frameshift variant C/- delins 3
rs886039778
SON
0.925 0.120 21 33552303 frameshift variant -/A delins 3
rs886039777
SON ; MIR6501
0.925 0.120 21 33549517 stop gained C/T snv 3
rs886039773
SON
0.925 0.120 21 33554982 frameshift variant TTAG/- delins 3
rs879255597
NEDD4L
0.882 0.080 18 58390667 missense variant G/A snv 3
rs879253748
GABRA1
0.882 0.040 5 161897251 frameshift variant C/- del 5
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs876657399
SCN8A
0.925 0.160 12 51768915 missense variant C/G snv 3
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs869320713
LOC107984190 ; ZMYND11
0.851 0.120 10 248370 missense variant G/A snv 6