Disease: SCN8A-related epilepsy with encephalopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225295
rs863225295
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C3281191
Disease:
SCN8A-related epilepsy with encephalopathy 		G 0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013