Annotation Detail
Information
- Associated Genes
- IL6R
- Associated Variants
-
IL6R p.Asp358Ala (p.D358A)
(
ENST00000368485.8,
ENST00000344086.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000344086.8, ENST00000368485.8 ) - Associated Disease
- coronary artery disease
- Source Database
- DisGeNET
- Description
- Interleukin-6 receptor (IL-6R) gene Asp358Ala (A>C, rs2228145) polymorphism has been associated with lower circulating inflammation biomarkers in coronary artery disease (CAD), such as C-reactive protein (CRP) or fibrinogen, but its role in the pathogenesis of aortic valve stenosis (AS) remains unknown.
- Pubmed
- 24717336
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2014
Drugs