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 diseases
- Source Database
- DisGeNET
- Description
- Several studies have reported an association between the genetic variant rs738409 (G) in the PNPLA3 gene and the risk of cirrhosis in various liver diseases.
- Pubmed
- 23069476
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0075244275481278
- Year of publication
- 2013
Drugs