Annotation Detail
Information
- Associated Genes
- BHLHE22
- Associated Variants
-
rs4906902
(
ENST00000541819.6 )
rs4906902 ( ENST00000541819.6 ) - Associated Disease
- absence epilepsy
- Source Database
- DisGeNET
- Description
- Mutation screening and linkage disequilibrium mapping of the gene encoding the GABA(A) beta(3) subunit (GABRB3) identified a common genetic variant in the exon 1a promoter region (C-allele of rs4906902) which displayed a reduced transcriptional activity and showed a strong allelic association with childhood absence epilepsy (CAE).
- Pubmed
- 17215107
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2007
Drugs