Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 ×
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: rs1553920374
rs1553920374 		1.000 4 101032267 missense variant C/T snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553923787
rs1553923787 		1.000 4 101083202 missense variant C/T snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553925558
rs1553925558 		1.000 4 101109063 missense variant T/C snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553920376
rs1553920376 		1.000 4 101032273 stop gained G/A snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1553920383
rs1553920383 		0.925 4 101032350 frameshift variant TC/- delins
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1560570541
rs1560570541 		1.000 4 101032315 frameshift variant -/G delins
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs199706529
rs199706529 		1.000 4 101083203 missense variant G/A;C snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0