Annotation Detail
Information
- Associated Genes
- PPP1R3B
- Associated Variants
-
NCAN p.Pro92Thr (p.P92T)
(
ENST00000252575.11 )
NCAN p.Pro92Ser (p.P92S) ( ENST00000252575.11 )
rs12137855
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624
NCAN p.Pro92Thr (p.P92T) ( ENST00000252575.11 )
NCAN p.Pro92Ser (p.P92S) ( ENST00000252575.11 )
rs12137855
PNPLA3 p.Ile148Met (p.I148M) ( ENST00000216180.8, ENST00000423180.2 )
GCKR c.1423-418T>C ( ENST00000264717.7 )
rs4240624 - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- By studying the genetic variants of obese Taiwanese children, we confirmed that the genetic variants in GCKR rs780094 and PNPLA3 rs738409, but not in NCAN rs2228603, LYPLAL1 rs12137855, and PPP1R3B rs4240624, are associated with an increased risk of NAFLD.
- Pubmed
- 24477042
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs