Annotation Detail

Information
Associated Genes
HHEX
Associated Variants
rs5015480
KCNQ1 c.1795-29246C>T ( ENST00000526095.2, ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
FTO c.46-27777C>A ( ENST00000637001.1, ENST00000637969.1, ENST00000471389.6, ENST00000636218.1, ENST00000636491.1 )
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
CDKAL1 c.371+11426A>C ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
rs10811661
rs5015480
KCNQ1 c.1795-29246C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
FTO c.46-27777C>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
CDKAL1 c.371+11426A>C ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
rs10811661
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
In Chinese Han, we replicated the associations between 7 genetic loci and T2D, with risk allele-specific odds ratios (ORs) as follows: 1.27 (95% CI, 1.11-1.45; p = 0.0008) for CDKAL1-rs10946398, 1.26 (95% CI, 1.08-1.47; p = 0.003) for IGF2BP2-rs4402960, 1.19 (95% CI, 1.04-1.37; p = 0.009) for SLC30A8-rs13266634, 1.22 (95% CI, 1.06-1.41; p = 0.005) for CDKN2A/B-rs10811661, 1.20 (95% CI, 1.01-1.42; p = 0.03) for HHEX-rs5015480, 1.37 (95% CI, 1.19-1.69; p = 1.0 x 10(-4)) for KCNQ1-rs2237892, and 1.24 (95% CI, 1.01-1.52; p = 0.046) for FTO-rs8050136 after adjustment for age, gender, and body mass index.
Pubmed
20509872
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.213843535476095
Year of publication
2010
Drugs