Annotation Detail
Information
- Associated Genes
- IL10RA
- Associated Variants
-
IL10RA MUTATION
IL10RA MUTATION
IL10RA p.Ile224Val (p.I224V) ( ENST00000227752.8 )
IL10RA p.Ser420Leu (p.S420L) ( ENST00000227752.8 )
IL10RA p.Ile224Val (p.I224V) ( ENST00000227752.8 )
IL10RA p.Ser420Leu (p.S420L) ( ENST00000227752.8 ) - Associated Disease
- Cytomegalovirus retinitis
- Source Database
- DisGeNET
- Description
- In European Americans (n = 750), a haplotype carrying an amino acid changing variation in the cytoplasmic domain (S420L) of IL-10R1 can be protective (OR, 0.14; 95% CI, 0.02-0.94; P = .04) against, whereas another haplotype carrying an amino acid changing variation in the extracellular domain (I224V) of IL-10R1 can be more susceptible (OR, 6.21; 95% CI, 1.22- 31.54; P = .03) to CMV retinitis.
- Pubmed
- 20617924
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2010
Drugs