Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 ×
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: rs1554689315
rs1554689315 		1.000 9 98306236 missense variant A/T snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018
dbSNP: rs1554689319
rs1554689319 		1.000 9 98306266 missense variant C/A snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018
dbSNP: rs1554689320
rs1554689320 		1.000 9 98306273 missense variant C/A snv
CUI: C4693550
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59 		0.800 1.000 3 2017 2018