Annotation Detail

Information
Associated Genes
IL1A
Associated Variants
rs2234650 ( ENST00000409329.5, ENST00000409589.5, ENST00000409929.5, ENST00000424272.5 )
rs1800587
IL1B SNV
IL1B p.Phe105= (p.F105=) ( ENST00000263341.7 )
NC_000002.12:g.112837290A>G
rs2234650 ( ENST00000409329.5, ENST00000409589.5, ENST00000409929.5, ENST00000424272.5 )
rs1800587
IL1B SNV
IL1B p.Phe105= (p.F105=) ( ENST00000263341.7 )
NC_000002.12:g.112837290A>G
Associated Disease
ankylosing spondylitis
Source Database
DisGeNET
Description
Polymorphisms of IL1α rs1800587, IL1β rs16944 and IL1β rs1143634 were not significantly associated with ankylosing spondylitis but inversely in this study IL1R rs2234650 was significantly associated and carriage of T allele in IL1R rs2234650 seems to be protective, while carriage of C allele result in two fold higher risk of developing AS.
Pubmed
22285486
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0151684072280945
Year of publication
2011
Drugs