Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039903
rs886039903
FGF12
0.020 GeneticVariation BEFREE All the 11 previously reported FGF12-associated epilepsy cases had a single neighboring p.(Arg114His) variant and presented similar phenotype. 31292943

2019
dbSNP: rs886039903
rs886039903
FGF12
0.020 GeneticVariation BEFREE Recently, only one recurrent gain-of-function variant [NM_021032.4:c.341G>A:p.(Arg114His)] in FGF12 was found in a total of 10 patients with severe early-onset epilepsy. 31311986

2019