Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
rs2854117
rs2854116
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
rs2854117
rs2854116
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 ) - Associated Disease
- Non-alcoholic Fatty Liver Disease
- Source Database
- DisGeNET
- Description
- Genotypes for rs2854116 and rs2854117 in APOC3 and the known rs738409 in patatin-like phospholipase domain-containing protein 3 (PNPLA3) in 390 patients with NAFLD and 409 control subjects were determined by sequencing and polymerase chain reaction analysis.
- Pubmed
- 24707151
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.264896707361267
- Year of publication
- 2014
Drugs