Annotation Detail
Information
- Associated Genes
- GGCT
- Associated Variants
-
GGCT SNV
IL6 c.-84-153C>G ( ENST00000404625.5 )
IL6 c.324+147C>G ( ENST00000485300.1, ENST00000407492.5, ENST00000401630.7, ENST00000401651.5, ENST00000406575.1, ENST00000258743.10, ENST00000404625.5 )
GGCT SNV
IL6 c.-84-153C>G ( ENST00000404625.5 )
IL6 c.324+147C>G ( ENST00000258743.10, ENST00000401630.7, ENST00000401651.5, ENST00000404625.5, ENST00000406575.1, ENST00000407492.5, ENST00000485300.1 ) - Associated Disease
- systemic scleroderma
- Source Database
- DisGeNET
- Description
- In the IL6 allelic combination analyses, the GGC allelic combination rs2069827-rs1800795-rs2069840 showed an association with overall SSc (Bonferroni p = 0.016, OR 1.13, 95% CI 1.04-1.23).
- Pubmed
- 23027890
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs