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: rs730882217
rs730882217 		0.925 5 37153962 frameshift variant TC/- del
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs749523755
rs749523755 		0.882 0.080 5 37157810 stop gained A/T snv 2.4E-05 7.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs775263897
rs775263897 		0.882 0.080 5 37148217 frameshift variant T/-;TT delins 4.0E-06; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs777686211
rs777686211 		0.851 0.200 5 37226776 frameshift variant A/-;AA delins 1.8E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0