Disease: Epileptic encephalopathy ×
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: rs121909323
rs121909323 		0.790 0.160 19 13277122 stop gained G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs786200962
rs786200962 		0.827 0.120 19 13298768 frameshift variant A/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0