Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×
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: rs796053229
rs796053229 		0.882 0.160 12 51807101 missense variant G/A;T snv 4.0E-06
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 8 2014 2017
dbSNP: rs1057518487
rs1057518487 		1.000 12 51688775 missense variant T/C snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 1.000 1 2018 2018
dbSNP: rs796053216
rs796053216 		0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0