Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794729207
rs794729207
Entrez Id: 6323;101929680;102724058
Gene Symbol: SCN1A;SCN1A-AS1;LOC102724058
SCN1A;SCN1A-AS1;LOC102724058
CUI: C1858673
Disease:
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		A 0.700 CausalMutation CLINVAR Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. 15087100 2004