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: rs1555883505
rs1555883505 		0.827 0.160 20 63490712 missense variant G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 1 2016 2016
dbSNP: rs574384755
rs574384755 		1.000 20 63490507 missense variant G/A snv 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2017 2017