Annotation Detail
Information
- Associated Genes
- IL12RB2
- Associated Variants
-
IL12RB2 c.1258+5605A>G
(
ENST00000696755.1,
ENST00000371000.5,
ENST00000544434.5,
ENST00000696757.1,
ENST00000648487.1,
ENST00000262345.5,
ENST00000696754.1,
ENST00000541374.6,
ENST00000674203.2 )
IL12RB2 c.1258+5605A>G ( ENST00000262345.5, ENST00000371000.5, ENST00000541374.6, ENST00000544434.5, ENST00000648487.1, ENST00000674203.2, ENST00000696754.1, ENST00000696755.1, ENST00000696757.1 ) - Associated Disease
- Biliary cirrhosis
- Source Database
- DisGeNET
- Description
- [Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.]
- Pubmed
- 20639880
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.00710109593580609
- Year of publication
- 2010
Drugs