Annotation Detail
Information
- Associated Genes
- ADRB2
- Associated Variants
-
ADRB2 p.Gly16Arg (p.G16R)
(
ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB2 p.Thr164Ile (p.T164I) ( ENST00000305988.6 )
ADRB2 p.Gly16Arg (p.G16R) ( ENST00000305988.6 )
ADRB2 p.Glu27Gln (p.E27Q) ( ENST00000305988.6 )
ADRB2 p.Glu27Ter (p.E27*) ( ENST00000305988.6 )
ADRB2 p.Thr164Ile (p.T164I) ( ENST00000305988.6 ) - Associated Disease
- Chronic Obstructive Airway Disease
- Source Database
- DisGeNET
- Description
- Finally, we found that the rare Thr164Ile polymorphism in ADRB2 was associated with reduced lung function and risk of COPD, whereas the more common Gly16Arg and Gln27Glu were not.
- Pubmed
- 25186548
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0418207064319365
- Year of publication
- 2015
Drugs