Annotation Detail
Information
- Associated Genes
- GABRG2
- Associated Variants
-
GABRG2 p.Asn196= (p.N196=)
(
ENST00000361925.9,
ENST00000414552.6,
ENST00000638552.1,
ENST00000638660.1,
ENST00000638772.1,
ENST00000639046.1,
ENST00000639111.2,
ENST00000639213.2,
ENST00000639384.1,
ENST00000639683.1,
ENST00000639975.1,
ENST00000640574.1,
ENST00000640985.1,
ENST00000641017.1 )
GABRG2 p.Asn196= (p.N196=) ( ENST00000361925.9, ENST00000414552.6, ENST00000638552.1, ENST00000638660.1, ENST00000638772.1, ENST00000639046.1, ENST00000639111.2, ENST00000639213.2, ENST00000639384.1, ENST00000639683.1, ENST00000639975.1, ENST00000640574.1, ENST00000640985.1, ENST00000641017.1 ) - Associated Disease
- Myoclonic Epilepsy, Juvenile
- Source Database
- DisGeNET
- Description
- A significant allelic (P=0.0006, odds ratio=1.6, 95% confidence interval=1.22-2.08) and genotypic (P=0.001) association of a synonymous variant in GABRG2, rs211037 (Asn196Asn) was observed with epilepsy irrespective of its phenotype, that is, MTLE-HS or juvenile myoclonic epilepsy.
- Pubmed
- 24061200
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs