Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs937726878
PMM2 ; TMEM186
0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 7.0E-06 3
rs886041876
HUWE1
0.851 0.280 X 53551078 missense variant G/A snv 7
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
rs886039903
FGF12
0.807 0.200 3 192335434 missense variant C/T snv 6
rs886039899
PURA
0.925 0.160 5 140114891 missense variant C/T snv 3
rs879255529
LOC105369745 ; ARID2
1.000 0.160 12 45848963 frameshift variant T/- del 1
rs879253856
ARID1B
0.925 0.240 6 157110496 frameshift variant CCG/TCCGCAGCCACTCC delins 6
rs879253747
ARID1B
0.925 0.240 6 157167101 stop gained C/T snv 6
rs879253746
ARID1B
0.925 0.240 6 157200866 frameshift variant -/T delins 6
rs879253745
ARID1B
0.925 0.240 6 157181040 frameshift variant AA/- delins 6
rs878853169
NBEA
1.000 0.160 13 35550528 stop gained C/T snv 4
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs878853164
KMT5B
1.000 0.160 11 68157849 stop gained C/A snv 4.0E-06 5
rs878853163
SATB2
0.925 0.200 2 199323850 stop gained T/A;C snv 4
rs878853162
TUBB
0.851 0.320 6 30723724 missense variant C/T snv 4
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs875989830
SATB2
0.925 0.200 2 199348742 frameshift variant AC/- delins 4
rs869312877
CHD2
0.925 0.160 15 92997299 frameshift variant -/G delins 3
rs869312875
MED13L
0.882 0.160 12 116237653 frameshift variant -/C delins 3
rs869312707
MED13L
0.925 0.160 12 115963422 missense variant G/A snv 4
rs869312704
TBR1
0.882 0.160 2 161423752 frameshift variant -/GGCTGCA delins 10
rs869312702
CIZ1 ; DNM1
0.827 0.160 9 128203609 missense variant G/A snv 10
rs869312700
FOXG1
0.925 0.200 14 28768100 missense variant G/A snv 3