Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 ×
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: rs778291283
rs778291283 		1.000 1 181720261 missense variant A/C;G snv 4.0E-06
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 1.000 1 2018 2018
dbSNP: rs886039323
rs886039323 		1.000 1 181651440 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 1.000 1 2018 2018
dbSNP: rs869312920
rs869312920 		1.000 1 181724488 missense variant T/C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.800 0
dbSNP: rs12131800
rs12131800 		1.000 1 181724499 missense variant G/A;C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1361083258
rs1361083258 		1.000 1 181721870 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1553286282
rs1553286282 		1.000 1 181579138 missense variant T/C snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1553345844
rs1553345844 		1.000 1 181757085 missense variant G/A snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 1.000 1 2018 2018
dbSNP: rs1558308998
rs1558308998 		1.000 1 181724496 missense variant A/G snv
CUI: C4748988
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 69 		0.700 0