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
- Type 2 diabetes-associated nonsynonymous single nucleotide polymorphism in SLC30A8 (the gene of ZnT8), rs13266634 (Arg325Trp), modulates ZnT8A specificities thereby indicating that this amino acid substitution has the critical role in antibody binding.
- Pubmed
- 22447136
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.339815256661862
- Year of publication
- 2012
Drugs