Annotation Detail
Information
- Associated Genes
- GABRA1
- Associated Variants
-
GABRA1 c.1059+15G>A
(
ENST00000023897.10,
ENST00000393943.10,
ENST00000428797.7,
ENST00000437025.6,
ENST00000635880.1,
ENST00000636573.1,
ENST00000637827.1,
ENST00000638112.1,
ENST00000638159.1 )
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 )
GABRA1 c.1059+15G>A ( ENST00000023897.10, ENST00000393943.10, ENST00000428797.7, ENST00000437025.6, ENST00000635880.1, ENST00000636573.1, ENST00000637827.1, ENST00000638112.1, ENST00000638159.1 )
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
- Seizures
- Source Database
- DisGeNET
- Description
- The aim of our study was to find out the possible role of single nucleotide polymorphisms (SNPs) present in GABRA1 IVS11+15 A>G (rs2279020) and GABRG2 588C>T (rs211037) genes in seizure susceptibility and pharmaco-resistance in northern Indian patients with epilepsy.
- Pubmed
- 20356767
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2010
Drugs