Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014553
Disease:
Absence Epilepsy
0.020 GeneticVariation BEFREE However, allele frequencies of rs20317 and rs4906902 were not significantly associated with 48 rCAE patients in comparison to >500 controls matched for ethnicity and ancestral origin. 22765836 2012
dbSNP: rs71651682
rs71651682
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0014553
Disease:
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: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0014553
Disease:
Absence Epilepsy
0.020 GeneticVariation BEFREE We report that maternal transmission of a GABRB3 signal peptide variant (P11S), previously implicated in childhood absence epilepsy, is associated with autism. 19935738 2011
dbSNP: rs25409
rs25409
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0014553
Disease:
Absence Epilepsy
0.020 GeneticVariation BEFREE One heterozygous missense mutation (P11S) in exon 1a segregated with four CAE-affected persons in one multiplex, two-generation Mexican family. 18514161 2008
dbSNP: rs71651682
rs71651682
Entrez Id: 2562;112268151
Gene Symbol: GABRB3;LOC112268151
GABRB3;LOC112268151
CUI: C0014553
Disease:
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
dbSNP: rs4906902
rs4906902
Entrez Id: 2562
Gene Symbol: GABRB3
GABRB3
CUI: C0014553
Disease:
Absence Epilepsy
0.020 GeneticVariation BEFREE Our study failed to replicate an association of the common GABRB3 exon 1a promoter SNP rs4906902 with CAE. 17215107 2007