WWOX, WW domain containing oxidoreductase, 51741

N. diseases: 356; N. variants: 58
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 ×
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: rs730880292
rs730880292 		1.000 16 78108455 missense variant C/G snv
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.800 0
dbSNP: rs1164465811
rs1164465811 		1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs587777248
rs587777248 		0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730880290
rs730880290 		1.000 16 78432701 stop gained G/A snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730880291
rs730880291 		1.000 16 78099823 frameshift variant GACG/- delins
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs730882215
rs730882215 		0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0
dbSNP: rs756762196
rs756762196 		0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05
CUI: C4015519
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 		0.700 0