Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Asp19Asn (p.D19N)
(
ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- bile duct carcinoma
- Source Database
- DisGeNET
- Description
- Carriers of the CG genotype of ABCG8 rs11887534 had higher risk of biliary stones [odds ratio (OR) = 2.3, 95% confidence interval (CI) 0.82-6.5), gallbladder cancer (OR = 4.3, 95% CI 1.7-10.4) and bile duct cancer (OR = 1.94, 95% CI 0.64-5.91), compared with carriers of the GG genotype.
- Pubmed
- 21062971
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs