Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R p.Arg381Gln (p.R381Q)
(
ENST00000697230.1,
ENST00000697164.1,
ENST00000697163.1,
ENST00000697154.1,
ENST00000425614.3,
ENST00000347310.10,
ENST00000697165.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- One is SNP rs11209026 in exon 9 of IL23R for association with Crohn's disease, which is predicted to be probably damaging by PolyPhen2.
- Pubmed
- 22293688
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.370597434945242
- Year of publication
- 2012
Drugs