Disease: Developmental regression
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
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38