Annotation Detail
Information
- Associated Genes
- CCNH
- Associated Variants
-
ERCC6 p.Met1097Val (p.M1097V)
(
ENST00000355832.10,
ENST00000681659.1 )
CCNH p.Val270Ala (p.V270A) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 )
ERCC6 p.Met1097Val (p.M1097V) ( ENST00000355832.10, ENST00000681659.1 )
CCNH p.Val270Ala (p.V270A) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
CCNH p.Val270Asp (p.V270D) ( ENST00000256897.9, ENST00000504878.1, ENST00000508855.5, ENST00000713562.1 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 ) - Associated Disease
- Carcinoma of bladder
- Source Database
- DisGeNET
- Description
- In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A, ERCC6 M1097V and RAD23B A249V in ever smokers: smokers with the variant alleles at these three loci had an almost 30-fold increased risk of bladder cancer [odds ratio (OR): 29.6, 95% confidence interval (CI): 9.3-93.7].
- Pubmed
- 17728339
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2007
Drugs