Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Asp19Asn (p.D19N)
(
ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG8 p.Thr400Lys (p.T400K) ( ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( ENST00000272286.4 ) - Associated Disease
- Malignant neoplasm of gallbladder
- Source Database
- DisGeNET
- Description
- Carriers of the ABCG8 haplotype C-C (rs4148217-rs11887534) had a 4.16-fold (95% CI 1.71-10.1) risk of gallbladder cancer compared with those carrying the C-G haplotype.
- Pubmed
- 21062971
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2011
Drugs