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
cholecystolithiasis
Source Database
DisGeNET
Description
Our findings suggest that ABCG8 rs11887534, identified as a gallstone risk single-nucleotide polymorphism by whole genome scan, is also associated with an increased risk of biliary tract cancer.
Pubmed
21062971
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.144017706528221
Year of publication
2011
Drugs