Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 ×
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: rs751610198
rs751610198 		1.000 2 27217892 missense variant T/G snv 4.1E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.800 0
dbSNP: rs763410987
rs763410987 		1.000 2 27242098 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 1.000 2 2015 2017
dbSNP: rs1057519262
rs1057519262 		1.000 2 27226128 splice region variant C/T snv
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs139332887
rs139332887 		1.000 2 27239731 missense variant G/A snv 3.4E-04 2.7E-04
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs62130681
rs62130681 		1.000 2 27239442 stop gained C/A;T snv 8.0E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0
dbSNP: rs769567624
rs769567624 		1.000 2 27226130 splice acceptor variant G/A snv 4.0E-06
CUI: C4225320
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50 		0.700 0