Annotation Detail

Information
Associated Genes
IL1RN
Associated Variants
IL1RN c.215-344_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-258_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-344_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-258_215-173delATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-173_215-172insATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-173_215-172insATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-173_215-172insATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN c.215-173_215-172insATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
SFTPD p.Thr180Ala (p.T180A) ( ENST00000372292.8 )
NC_000002.12:g.112837290A>G
SFTPD p.Thr180Ala (p.T180A) ( ENST00000372292.8 )
NC_000002.12:g.112837290A>G
Associated Disease
Chronic Obstructive Airway Disease
Source Database
DisGeNET
Description
Genetic polymorphisms of surfactant protein D rs2243639, Interleukin (IL)-1β rs16944 and IL-1RN rs2234663 in chronic obstructive pulmonary disease, healthy smokers, and non-smokers.
Pubmed
24504887
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0138211293893571
Year of publication
2015
Drugs