Annotation Detail

Information
Associated Genes
HLA-DRB1
Associated Variants
IL4R p.Ile75Leu (p.I75L) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Val (p.I75V) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
IL4R p.Ile75Leu (p.I75L) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Val (p.I75V) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Ile75Phe (p.I75F) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
Associated Disease
Rheumatoid Nodule
Source Database
DisGeNET
Description
We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoantibody-positive African-American RA patients with at least one HLA-DRB1 allele encoding the SE.
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00636271518968588
Year of publication
2010
Pubmed
20444266
Drugs