WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
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: rs730882215
rs730882215 		0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1057517846
rs1057517846 		1.000 16 78108446 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2016 2016