Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.800 CausalMutation CLINVAR Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 29215089

2018
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.800 CausalMutation CLINVAR Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. 15048894

2004
dbSNP: rs121917751
rs121917751
SCN2A
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		A 0.800 GeneticVariation CLINVAR