Annotation Detail

Information
Associated Genes
PNPLA3
Associated Variants
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
Associated Disease
liver cirrhosis
Source Database
DisGeNET
Description
The population attributable risk of cirrhosis in alcoholic carriers of allele PNPLA3 rs738409(G) was estimated at 26.6%.
Pubmed
21254164
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0080673112922884
Year of publication
2011
Drugs