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: rs1555889162
rs1555889162 		0.882 0.040 20 49374931 missense variant G/A;C snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2017 2017
dbSNP: rs587777848
rs587777848 		0.882 0.040 20 49374519 missense variant G/C;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0