Disease: Global developmental delay ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs398122855
rs398122855 		0.882 0.240 X 107642384 missense variant G/C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2012 2012