Annotation Detail
Information
- Associated Genes
- KCNQ1
- Associated Variants
-
KCNQ1 c.1795-29246C>T
(
ENST00000526095.2,
ENST00000496887.7,
ENST00000155840.12,
ENST00000713725.1,
ENST00000646564.2,
ENST00000335475.6 )
KCNQ1 c.1795-11803A>C ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000155840.12, ENST00000526095.2, ENST00000496887.7 )
rs729287
HNF1B c.544+1391T>C ( ENST00000613727.4, ENST00000621123.4, ENST00000614313.4, ENST00000617811.5 )
COL8A1 c.-4+13317C>T ( ENST00000261037.7, ENST00000273342.8, ENST00000652472.1 )
KCNQ1 c.1795-29246C>T ( 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 )
rs729287
HNF1B c.544+1391T>C ( ENST00000613727.4, ENST00000614313.4, ENST00000617811.5, ENST00000621123.4 )
COL8A1 c.-4+13317C>T ( ENST00000261037.7, ENST00000273342.8, ENST00000652472.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs729287 (Pc=7.5 × 10(-5)), and HNF1 rs4430796 (P=0.003) were significantly associated with T2DM, with similar effect sizes to those of Europeans.
- Pubmed
- 24145053
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.335743628580658
- Year of publication
- 2013
Drugs