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: rs1057518932
rs1057518932 		1.000 17 44855003 missense variant T/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555565774
rs1555565774 		0.807 0.360 17 44862753 frameshift variant G/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0