Annotation Detail
Information
- Associated Genes
- INS
- 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
- The R325W (rs13266634) nonsynonymous polymorphism in the islet-specific zinc transporter protein gene, SLC30A8, has been reported to be associated with type 2 diabetes and possibly with a defect in insulin secretion.
- Pubmed
- 18162509
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.373621751212336
- Year of publication
- 2008
Drugs