Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21