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
- cholelithiasis
- Source Database
- DisGeNET
- Description
- Significant association of ABCG5 604Q and ABCG8 D19H polymorphisms with gallstone disease.
- Pubmed
- 18457353
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.148827715355546
- Year of publication
- 2008
Drugs