Annotation Detail
Information
- Associated Genes
- NPC1
- Associated Variants
-
NPC1 p.His215Arg (p.H215R)
(
ENST00000269228.10 )
NPC1 p.His215Arg (p.H215R) ( ENST00000269228.10 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- A polymorphism (His215Arg) in NPC1 was associated with obesity in Europeans.
- Pubmed
- 23153210
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.25136822101897
- Year of publication
- 2012
Drugs