Annotation Detail
Information
- Associated Genes
- IFIH1
- Associated Variants
-
IFIH1 p.Ala946Thr (p.A946T)
(
ENST00000648433.1,
ENST00000649979.2,
ENST00000679938.1 )
IFIH1 p.Ala946Thr (p.A946T) ( ENST00000648433.1, ENST00000649979.2, ENST00000679938.1 ) - Associated Disease
- Diabetes Mellitus, Insulin-Dependent
- Source Database
- DisGeNET
- Description
- A recent large-scale analysis of nonsynonymous coding polymorphisms showed strong evidence that an alanine to threonine amino acid change at codon 946 of the interferon-induced helicase (IFIH1) gene (SNP ID rs1990760) was associated with type 1 diabetes.
- Pubmed
- 17535987
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.167448922050564
- Year of publication
- 2007
Drugs