Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 ×
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: rs672601376
rs672601376 		0.925 0.040 12 13608760 missense variant A/C snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs672601377
rs672601377 		1.000 12 13608769 missense variant T/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.800 1.000 3 2014 2017
dbSNP: rs672601378
rs672601378 		0.882 0.040 12 13615149 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 3 2014 2017
dbSNP: rs879253931
rs879253931 		0.925 12 13567084 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 1.000 1 2016 2016
dbSNP: rs1057519553
rs1057519553 		1.000 12 13866166 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1060499659
rs1060499659 		1.000 12 13615170 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1135401799
rs1135401799 		1.000 12 13608647 stop gained G/A snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs1565455778
rs1565455778 		0.925 12 13567063 frameshift variant A/- del
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs796052571
rs796052571 		0.851 0.040 12 13608755 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs869312669
rs869312669 		1.000 12 13571922 missense variant T/G snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs869312868
rs869312868 		0.925 12 13571910 missense variant C/T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0
dbSNP: rs876661151
rs876661151 		0.925 0.040 12 13608611 missense variant C/A;T snv
CUI: C4015316
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27 		0.700 0