Annotation Detail
Information
- Associated Genes
- ABCG8
- Associated Variants
-
ABCG8 p.Thr400Lys (p.T400K)
(
ENST00000272286.4 )
ABCG8 p.Thr400Arg (p.T400R) ( ENST00000272286.4 )
ABCG8 p.Thr400Met (p.T400M) ( 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
- cholelithiasis
- Source Database
- DisGeNET
- Description
- These findings indicate that the T400K polymorphism in ABCG8 may be associated with the incidence of gallstone disease in males.
- Pubmed
- 17612515
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.148827715355546
- Year of publication
- 2007
Drugs