Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs190111194
rs190111194
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		T 0.700 GeneticVariation CLINVAR Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. 27781031

2016