Annotation Detail

Information
Associated Genes
IL6R
Associated Variants
IL6R c.85+2913A>G ( ENST00000622330.5, ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000368485.8, ENST00000344086.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000368485.8, ENST00000344086.8 )
IL6R c.1161-5190T>C ( ENST00000368485.8, ENST00000344086.8 )
IL6R c.85+2913A>G ( ENST00000344086.8, ENST00000368485.8, ENST00000622330.5 )
IL6R p.Asp358Ala (p.D358A) ( ENST00000344086.8, ENST00000368485.8 )
IL6R p.Asp358Val (p.D358V) ( ENST00000344086.8, ENST00000368485.8 )
IL6R c.1161-5190T>C ( ENST00000344086.8, ENST00000368485.8 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as predictors of response to tocilizumab in rheumatoid arthritis.
Pubmed
24978393
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.247719924550087
Year of publication
2014
Drugs