Annotation Detail

Information
Associated Genes
IL1RN
Associated Variants
IL1B c.-118C>T
NC_000002.12:g.112837290A>G
IL1RN p.Ala60= (p.A60=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
IL1B c.-118C>T
NC_000002.12:g.112837290A>G
IL1RN p.Ala60= (p.A60=) ( ENST00000259206.9, ENST00000354115.6, ENST00000361779.7, ENST00000409930.4, ENST00000696879.1, ENST00000696881.1 )
Associated Disease
Degenerative polyarthritis
Source Database
DisGeNET
Description
A 3-single-nucleotide polymorphism (SNP) IL1B-IL1RN haplotype rs1143627-rs16944-rs419598 showed a trend toward hand OA association (posterior probability of association 0.72) with the most prominent feature being protection from a specific haplotype representing a partial mirror image of the extended risk haplotype (OR estimated at 0.46).
Pubmed
19733643
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0258081790226087
Year of publication
2010
Drugs