Disease: Developmental regression
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 30
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs1555582065
UBTF ; LOC101926967
0.827 0.160 17 44212851 missense variant C/T snv 13
rs864309505
TPP1
0.807 0.200 11 6615220 missense variant T/G snv 10
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv 9
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs748190164
HEXA
0.925 0.160 15 72356531 missense variant C/G;T snv 4.0E-06 4