Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796053138
rs796053138
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		T 0.700 CausalMutation CLINVAR Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 28379373 2017
dbSNP: rs796053138
rs796053138
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		T 0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016