Annotation Detail

Information
Associated Genes
ABCB11
Associated Variants
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
ABCB11 p.Val444Gly (p.V444G) ( ENST00000650372.1 )
ABCB11 p.Val444Ala (p.V444A) ( ENST00000650372.1 )
ABCB11 p.Val444Asp (p.V444D) ( ENST00000650372.1 )
Associated Disease
Hepatitis C, Chronic
Source Database
DisGeNET
Description
On the other hand, the common BSEP polymorphism V444A (c.1331T>C; allele frequency 65%) emerged as an independent predictor of the success rate in patients with chronic hepatitis C treated with pegylated interferon/ribavirin.
Pubmed
21691112
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00290991572276264
Year of publication
2011
Drugs