Annotation Detail
Information
- Associated Genes
- INS
- Associated Variants
-
KCNQ1 c.1795-29246C>T
(
ENST00000526095.2,
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 c.1795-19467A>C ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000155840.12, ENST00000496887.7, ENST00000526095.2 )
KCNQ1 c.1795-11803A>C ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000526095.2, ENST00000496887.7 )
KCNQ1 c.1795-10451C>T ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000526095.2, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 c.1795-29246C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-19467A>C ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-11803A>C ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-10451C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ1 are reported to be associated with type 2 diabetes mellitus (T2DM), possibly caused by a reduction in insulin secretion and higher fasting glucose, but the results are inconsistent.
- Pubmed
- 20701788
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.373621751212336
- Year of publication
- 2010
Drugs