Annotation Detail
Information
- Associated Genes
- GABRA6
- Associated Variants
-
GABRA6 MUTATION
GABRA6 MUTATION
GABRA6 c.*135C>T ( ENST00000274545.10, ENST00000523217.5 )
GABRA6 c.*135C>T ( ENST00000274545.10, ENST00000523217.5 ) - Associated Disease
- idiopathic generalized epilepsy
- Source Database
- DisGeNET
- Description
- Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.
- Pubmed
- 25088614
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs