Annotation Detail
Information
- Associated Genes
- TNF
- Associated Variants
-
NC_000006.12:g.31575324G>A
NC_000006.12:g.31575324G>A - Associated Disease
- alpha-1-Antitrypsin Deficiency, Autosomal Recessive
- Source Database
- DisGeNET
- Description
- Previous work has shown that COPD/chronic bronchitis subjects with alpha-1 antitrypsin deficiency with the rs361525 TNF-α single nucleotide polymorphism have 100 times more TNF-in spontaneous sputum than disease matched controls.
- Pubmed
- 26620975
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2015
Drugs