Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
rs729302
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
rs2280714 ( ENST00000265388.10, ENST00000627585.2 )
rs729302
IRF5 c.-12+413T>G ( ENST00000357234.10, ENST00000402030.6, ENST00000477535.5, ENST00000489702.6 )
rs2280714 ( ENST00000265388.10, ENST00000627585.2 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- The IRF5 haplotype (rs729302 A, rs2004640 T, and rs2280714 T), which was reported as conferring an increased risk of SLE, was significantly associated with MAS susceptibility in patients with systemic JIA (OR 4.61; 95% CI 1.73, 12.3; p < 0.001).
- Pubmed
- 21239750
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.234583243237617
- Year of publication
- 2011
Drugs