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
Non-alcoholic Fatty Liver Disease
Source Database
DisGeNET
Description
PNPLA3 rs738409 increased the OR of NAFLD by 1.622 (95% CI: 1.071, 2.457; P = 0.023) in subjects with GC alleles and 2.659 (95% CI: 1.509, 4.686; P < 0.001) for GG alleles, as compared with CC alleles.
Pubmed
23269818
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.264896707361267
Year of publication
2013
Drugs