Annotation Detail
Information
- Associated Genes
- PNPLA3
- Associated Variants
-
PNPLA3 p.Ile148Met (p.I148M)
(
ENST00000216180.8,
ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624 - Associated Disease
- Fatty Liver
- Source Database
- DisGeNET
- Description
- We used data from the National Health and Nutrition Examination Survey III to validate the association between rs738409 (PNPLA3), rs780094 (GCKR), and rs4240624 (PPP1R3B) with HS, with or without increased levels of ALT, among 3 different ancestries.
- Pubmed
- 23416328
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162529292613064
- Year of publication
- 2013
Drugs