DOCK3, dedicator of cytokinesis 3, 1795

N. diseases: 85; N. variants: 51
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: rs1560212751
rs1560212751 		1.000 3 51208772 splice acceptor variant A/G snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1560414254
rs1560414254 		1.000 3 51312486 frameshift variant ACTT/- delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0