Disease: Profound intellectual disabilities
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057524820
SCN8A
0.776 0.280 12 51765746 missense variant G/A;T snv 33
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33