Disease: SCN8A-related epilepsy with 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: rs879255711
rs879255711 		1.000 0.160 12 51807096 missense variant A/T snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs886044328
rs886044328 		0.882 0.160 12 51806363 missense variant G/A snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0