Disease: Delayed speech and language development
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1566785990
IRF2BPL ; LOC107984638
0.851 0.120 14 77026534 missense variant A/G snv 12
rs587783405
CDKL5
0.851 0.160 X 18588021 stop gained C/T snv 9
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs267608463
MECP2
0.925 0.120 X 154032206 splice donor variant C/A;T snv 5