Disease: Global developmental delay
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs730882242
DIAPH1
0.807 0.280 5 141573518 stop gained G/A snv 7
rs34832477
TUBGCP2
0.925 0.120 10 133293066 missense variant G/A snv 4.0E-04 1.6E-03 3