Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1555955296
CDKL5
0.742 0.320 X 18628716 stop gained C/T snv 17
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9