Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs886041936
HDAC8
0.827 0.120 X 72495210 stop gained G/A snv 14
rs80338758
MED12
0.790 0.400 X 71127367 missense variant C/A;T snv 12
rs1057518921
MED12
1.000 X 71132465 missense variant G/A snv 7
rs1556165162
HDAC8
0.882 0.120 X 72572657 frameshift variant GG/- delins 7
rs121434616
CUL4B
0.925 0.080 X 120544179 stop gained G/A snv 6
rs875989802
DDX3X
0.882 0.080 X 41344278 missense variant G/A snv 6
rs869312686
HCFC1
0.882 0.120 X 153952053 missense variant G/C;T snv 5
rs1557045296
SLC6A8
1.000 X 153693971 missense variant C/T snv 4
rs752738546
DDX3X
1.000 X 41343802 stop gained G/A;T snv 5.6E-06 4
rs727504031
NDP ; NDP-AS1
0.925 0.200 X 43949981 missense variant G/A snv 3
rs867593888
MYH9
0.882 0.200 22 36292059 missense variant T/C snv 11
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs904200599
TASP1
1.000 20 13534116 missense variant G/A snv 3
rs1223073957
MED25
0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 12
rs776291104
MED25
0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 12
rs863225094
PPP2R1A
0.827 0.160 19 52213076 missense variant G/A snv 10
rs201037487
FAM98C
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 7
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs869312741
SMG9
0.882 0.080 19 43747509 frameshift variant GG/- delins 5
rs869312742
SMG9
0.882 0.080 19 43744768 splice region variant T/C snv 5
rs869312696
ASXL3
0.882 0.160 18 33739086 stop gained C/A snv 5
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73