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: rs113994198
rs113994198 		0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 1999 2003