Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 ×
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: rs587777491
rs587777491 		1.000 5 45396521 missense variant C/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777492
rs587777492 		1.000 5 45695795 missense variant G/A snv 8.1E-06
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777493
rs587777493 		1.000 5 45645220 missense variant A/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777494
rs587777494 		1.000 5 45461967 missense variant C/G;T snv 4.0E-06
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs587777495
rs587777495 		1.000 5 45645199 missense variant G/A snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 1.000 3 2014 2018
dbSNP: rs1057519547
rs1057519547 		0.925 0.040 5 45396550 missense variant C/T snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 0
dbSNP: rs1057519548
rs1057519548 		0.925 0.040 5 45645575 missense variant C/G snv
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.800 0
dbSNP: rs544994462
rs544994462 		1.000 5 45695954 missense variant C/A snv 6.6E-03 3.6E-03
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 1.000 3 2014 2018
dbSNP: rs1554040120
rs1554040120 		1.000 5 45695680 frameshift variant G/- del
CUI: C4014531
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24 		0.700 0