Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs71651682
rs71651682
GABRB3 ; LOC112268151
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 GeneticVariation BEFREE GABRB3 mutation, G32R, associated with childhood absence epilepsy alters α1β3γ2L γ-aminobutyric acid type A (GABAA) receptor expression and channel gating. 22303015

2012
dbSNP: rs71651682
rs71651682
GABRB3 ; LOC112268151
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.020 GeneticVariation BEFREE An exon 2 heterozygous missense mutation (G32R) was present in two CAE-affected persons and two persons affected with EEG-recorded spike and/or sharp wave in a two-generation Honduran family. 18514161

2008