Annotation Detail
Information
- Associated Genes
- SLC30A8
- Associated Variants
-
SLC30A8 p.Arg325Trp (p.R325W)
(
ENST00000427715.2,
ENST00000456015.7,
ENST00000519688.5,
ENST00000521243.5 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- SLC30A8 encodes a zinc transporter in the beta cell; individuals with a common missense variant (rs13266634; R325W) in SLC30A8 demonstrate a lower early insulin response to glucose and an increased risk of type 2 diabetes.
- Pubmed
- 25348609
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.339815256661862
- Year of publication
- 2014
Drugs