Annotation Detail

Information
Associated Genes
IL1RN
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
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
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
IL1RN p.Ser133Arg (p.S133R) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1RN p.Ser133= (p.S133=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
Associated Disease
ankylosing spondylitis
Source Database
DisGeNET
Description
This study's purpose is to investigate the association of ankylosing spondylitis with single-nucleotide polymorphisms (SNPs) in the IL-1 family: IL-1a (-889C/T) rs1800587, IL-1b (-511C/T) rs16944, IL-1b (+3962C/T) rs1143634, IL-1R (Pst-1 1970C/T) rs2234650 and IL-1RA (Mspa-1 11100C/T) rs315952.
Pubmed
22285486
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0234748227840607
Year of publication
2011
Drugs