Annotation Detail
Information
- Associated Genes
- GABRA1
- Associated Variants
-
GABRB2 p.Ala436= (p.A436=)
(
ENST00000274547.7,
ENST00000353437.10,
ENST00000393959.6,
ENST00000517547.5,
ENST00000517901.5,
ENST00000520240.5,
ENST00000675303.1,
ENST00000675381.1,
ENST00000675773.1 )
GABRA6 c.*135C>T ( ENST00000274545.10, ENST00000523217.5 )
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 )
GABRB2 p.Ala436= (p.A436=) ( ENST00000274547.7, ENST00000353437.10, ENST00000393959.6, ENST00000517547.5, ENST00000517901.5, ENST00000520240.5, ENST00000675303.1, ENST00000675381.1, ENST00000675773.1 )
GABRA6 c.*135C>T ( ENST00000274545.10, ENST00000523217.5 )
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
- epilepsy
- Source Database
- DisGeNET
- Description
- We investigated the association of single-nucleotide polymorphisms in GABA(A) receptor subunit subtype genes namely; rs2279020 (GABRA1), rs3219151 (GABRA6), rs2229944 (GABRB2), and rs211037 (GABRG2) with predisposition to epilepsy and AED resistance.
- Pubmed
- 24061200
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00481000882732476
- Year of publication
- 2014
Drugs