Disease: Global developmental delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs1064796765
DYNC1H1
0.763 0.240 14 102002950 missense variant G/A snv 19
rs863225045
ALDH18A1
0.790 0.360 10 95637327 missense variant C/A;T snv 15