Annotation Detail
Information
- Associated Genes
- TCF7L2
- Associated Variants
-
TCF7L2 c.450+33966C>T
(
ENST00000534894.5,
ENST00000355995.9,
ENST00000369397.8,
ENST00000352065.10,
ENST00000538897.5,
ENST00000627217.3,
ENST00000704414.1,
ENST00000629706.2,
ENST00000355717.9,
ENST00000545257.6,
ENST00000369395.6,
ENST00000277945.12 )
KCNQ1 c.1514+8160A>G ( ENST00000646564.2, ENST00000335475.6, ENST00000713725.1, ENST00000496887.7, ENST00000155840.12 )
KCNQ1 c.1795-29246C>T ( ENST00000526095.2, ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 c.1795-10451C>T ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000526095.2, ENST00000496887.7, ENST00000155840.12 )
IGF2BP2 c.239+10651A>G ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
rs4689388
WFS1 p.Asn500Lys (p.N500K) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Asn500Lys (p.N500K) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Asn500= (p.N500=) ( ENST00000503569.5, ENST00000226760.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
TCF7L2 c.450+33966C>T ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
KCNQ1 c.1514+8160A>G ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-29246C>T ( 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 )
IGF2BP2 c.239+10651A>G ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
rs4689388
WFS1 p.Asn500Lys (p.N500K) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Asn500Lys (p.N500K) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 )
WFS1 p.Asn500= (p.N500=) ( ENST00000226760.5, ENST00000503569.5, ENST00000506362.2, ENST00000673991.1, ENST00000682275.1, ENST00000684087.1 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D risk at P ≤ 0.05, including rs6769511 (IGF2BP2), 2 SNPs in the WFS1 gene (rs4689388 and rs1801214), rs7903146 (TCF7L2), and 3 SNPs in the KCNQ1 gene (rs231362, rs2237892, and rs2237897).
- Pubmed
- 23144361
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.613988408391434
- Year of publication
- 2012
Drugs