Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 ×
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: rs1553517274
rs1553517274 		1.000 2 165090847 missense variant A/G snv
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 1.000 1 2018 2018
dbSNP: rs1057518801
rs1057518801 		0.851 0.080 2 165130238 missense variant A/G snv
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 0
dbSNP: rs1057520753
rs1057520753 		1.000 2 165097493 missense variant G/A snv
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.800 0
dbSNP: rs1170839078
rs1170839078 		1.000 2 165090758 stop gained T/A;G snv 1.4E-05
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.700 0
dbSNP: rs1312429782
rs1312429782 		1.000 2 165091229 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62 		0.700 0