Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 ×
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: rs587777307
rs587777307 		1.000 0.040 5 161890945 missense variant G/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.800 1.000 2 2014 2017
dbSNP: rs587777308
rs587777308 		0.763 0.040 5 161873196 missense variant G/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.800 1.000 2 2014 2017
dbSNP: rs587777309
rs587777309 		1.000 0.040 5 161895726 missense variant A/C snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.800 1.000 2 2014 2017
dbSNP: rs863225292
rs863225292 		1.000 0.040 5 161895711 missense variant G/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1060499553
rs1060499553 		0.827 0.040 5 161890983 missense variant G/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 0
dbSNP: rs775157869
rs775157869 		1.000 0.040 5 161897258 missense variant G/A;C snv 4.0E-06; 8.0E-06
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 0
dbSNP: rs796052492
rs796052492 		0.925 0.040 5 161890993 missense variant C/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 0
dbSNP: rs879253748
rs879253748 		0.882 0.040 5 161897251 frameshift variant C/- del
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 0
dbSNP: rs886039373
rs886039373 		0.882 0.040 5 161882639 missense variant G/A snv
CUI: C3810400
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19 		Nervous System Diseases 0.700 0