Annotation Detail
Information
- Associated Genes
- ABCG5
- Associated Variants
-
ABCG5 p.Arg50Cys (p.R50C)
(
ENST00000405322.8 )
ABCG5 p.Arg50Gly (p.R50G) ( ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 )
ABCG5 p.Arg50Cys (p.R50C) ( ENST00000405322.8 )
ABCG5 p.Arg50Gly (p.R50G) ( ENST00000405322.8 )
ABCG8 p.Asp19Asn (p.D19N) ( ENST00000272286.4 )
ABCG8 p.Asp19His (p.D19H) ( ENST00000272286.4 ) - Associated Disease
- cholelithiasis
- Source Database
- DisGeNET
- Description
- ABCG5 rs6756629 is in strong linkage disequilibrium with rs11887534 (D19H), a variant previously associated with gallstone disease risk in populations of European-descent.
- Pubmed
- 24256507
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.132453988507291
- Year of publication
- 2013
Drugs