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: rs387906684
rs387906684
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C1843140
Disease:
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.700 CausalMutation CLINVAR De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. 19786696 2009