Annotation Detail
Information
- Associated Genes
- IL23R
- Associated Variants
-
IL23R c.491+4368G>A
(
ENST00000697163.1,
ENST00000697164.1,
ENST00000697230.1,
ENST00000697165.1,
ENST00000697154.1,
ENST00000371007.6,
ENST00000347310.10 )
IL23R c.653-2380G>A ( ENST00000697165.1, ENST00000347310.10, ENST00000697154.1, ENST00000371007.6, ENST00000697163.1, ENST00000697164.1, ENST00000697230.1 )
IL23R c.653-1677G>A ( ENST00000697164.1, ENST00000697230.1, ENST00000697163.1, ENST00000347310.10, ENST00000697154.1, ENST00000371007.6, ENST00000697165.1 )
IL23R c.955+185A>C ( ENST00000697165.1, ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000371007.6, ENST00000697163.1, ENST00000697164.1, ENST00000697230.1 )
IL23R c.955+185A>T ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000425614.3, ENST00000347310.10, ENST00000371007.6, ENST00000697154.1, ENST00000697165.1 )
IL23R c.956-8194A>G ( ENST00000697163.1, ENST00000697230.1, ENST00000697164.1, ENST00000697165.1, ENST00000371007.6, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10 )
IL23R c.1045+41T>G ( ENST00000425614.3, ENST00000347310.10, ENST00000697154.1, ENST00000697165.1, ENST00000697230.1, ENST00000697164.1, ENST00000697163.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
IL23R c.1149-2391G>A ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697165.1, ENST00000697164.1, ENST00000697230.1, ENST00000697163.1 )
IL23R c.1239+957C>A ( ENST00000697164.1, ENST00000697230.1, ENST00000697163.1, ENST00000697154.1, ENST00000347310.10, ENST00000425614.3, ENST00000697165.1 )
IL23R c.*309C>A ( ENST00000347310.10 )
IL23R SNV
IL23R c.491+4368G>A ( ENST00000347310.10, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.653-2380G>A ( ENST00000347310.10, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.653-1677G>A ( ENST00000347310.10, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.955+185A>C ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.955+185A>T ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.956-8194A>G ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1, ENST00000371007.6 )
IL23R c.1045+41T>G ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
IL23R c.1149-2391G>A ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
IL23R c.1239+957C>A ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
IL23R c.*309C>A ( ENST00000347310.10 )
IL23R SNV - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
- Pubmed
- 17804789
- Original source reporting the Gene Disease association
- GWASCAT
- DisGENET score for the Gene Disease association
- 0.370597434945242
- Year of publication
- 2007
Drugs