Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs572427454
rs572427454
GABRB3
0.010 GeneticVariation BEFREE Both mutant subunits, however, were reduced on the cell surface and in synapses, but the Lennox-Gastaut syndrome mutant β3 (N328D) subunit was more reduced than the juvenile absence epilepsy mutant β3 (E357K) subunit. 31435640

2019
dbSNP: rs1392714391
rs1392714391
LGSN
0.010 GeneticVariation BEFREE In our study, GABRA1 965 C > A mutation and 15 A > G polymorphism gene may play an important role in modulating the drug efficacy in LGS patients. 29785705

2018