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
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs397517077
CBL
0.851 0.320 11 119278162 splice acceptor variant AAAG/- del 10