Annotation Detail
Information
- Associated Genes
- GABRB3
- Associated Variants
-
rs4906902
(
ENST00000541819.6 )
rs1883415
rs4906902 ( ENST00000541819.6 )
rs1883415 - Associated Disease
- Epilepsy, Generalized
- Source Database
- DisGeNET
- Description
- Allelic associations with generalized epilepsies have been reported for single nucleotide polymorphisms rs1883415 (ALDH5A1; succinic semialdehyde dehydrogenase) and rs4906902 (GABRB3; GABAA β3), both of which are present in the 5' regulatory region of genes involved in γ-aminobutyric acid (GABA) homeostasis.
- Pubmed
- 22082659
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2011
Drugs