Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 ×
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: rs1569064110
rs1569064110 		1.000 19 48414517 missense variant G/A snv
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 0
dbSNP: rs1569065861
rs1569065861 		1.000 19 48419766 missense variant G/C snv
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 0
dbSNP: rs1569065866
rs1569065866 		1.000 19 48419803 missense variant A/C snv
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.700 0
dbSNP: rs886040861
rs886040861 		0.925 0.040 19 48419722 missense variant G/A snv
CUI: C4310687
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46 		0.800 1.000 1 2016 2016