Annotation Detail
Information
- Associated Genes
- SCNN1A
- Associated Variants
-
SCNN1A p.Thr722Ser (p.T722S)
(
ENST00000543768.1,
ENST00000360168.7,
ENST00000540037.5,
ENST00000396966.6,
ENST00000228916.7 )
SCNN1A p.Thr722Ala (p.T722A) ( ENST00000543768.1, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000228916.7 )
UNC13A c.2473-324T>G ( ENST00000519716.7, ENST00000550896.1, ENST00000551649.5, ENST00000552293.5 )
rs13048019 ( ENST00000286827.7 )
NC_000009.12:g.27536399C>T
SCNN1A p.Thr722Ser (p.T722S) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 )
SCNN1A p.Thr722Ala (p.T722A) ( ENST00000228916.7, ENST00000360168.7, ENST00000396966.6, ENST00000540037.5, ENST00000543768.1 )
UNC13A c.2473-324T>G ( ENST00000519716.7, ENST00000550896.1, ENST00000551649.5, ENST00000552293.5 )
rs13048019 ( ENST00000286827.7 )
NC_000009.12:g.27536399C>T - Associated Disease
- amyotrophic lateral sclerosis
- Source Database
- DisGeNET
- Description
- Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 in the UNC13A gene, rs13048019 in the TIMA1 gene, and rs2228576 in the SCNN1A gene have been reported to be associated with the risk for developing amyotrophic lateral sclerosis (ALS) in Caucasian population.
- Pubmed
- 24493373
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2014
Drugs