Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 ×
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: rs886039817
rs886039817 		1.000 4 47403613 missense variant T/C snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.800 0
dbSNP: rs886039818
rs886039818 		1.000 4 47406706 missense variant C/T snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.800 0
dbSNP: rs1135401786
rs1135401786 		1.000 4 47031990 missense variant C/T snv
CUI: C4310691
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45 		0.700 0