Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
KCNQ1 c.1795-11803A>C
(
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6,
ENST00000155840.12,
ENST00000526095.2,
ENST00000496887.7 )
KCNQ1 c.1795-11803A>C ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% among Caucasians was associated with reduced measures of insulin release following an oral glucose load suggesting that the increased risk of type 2 diabetes, previously reported for this variant, likely is mediated through an impaired beta cell function.
- Pubmed
- 19516902
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.373621751212336
- Year of publication
- 2009
Drugs