Disease: Lennox-Gastaut syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs572427454
rs572427454
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0238111
Disease:
Lennox-Gastaut syndrome 		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