Annotation Detail

Information
Associated Genes
CDKN2A
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 )
rs12779790
rs1111875
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
SLC16A11 p.Asp103Gly (p.D103G) ( ENST00000662352.3, ENST00000574600.3, ENST00000673828.2 )
HNF4A p.Thr139Ile (p.T139I) ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000309576.11, ENST00000397010.7, ENST00000397000.6, ENST00000287820.10, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
rs10811661
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 )
rs12779790
rs1111875
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
SLC16A11 p.Asp103Gly (p.D103G) ( ENST00000574600.3, ENST00000662352.3, ENST00000673828.2 )
HNF4A p.Thr139Ile (p.T139I) ( ENST00000316099.10, ENST00000316673.9, ENST00000415691.2, ENST00000443598.6, ENST00000457232.5, ENST00000609795.5 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
ABCA1 p.Arg230Cys (p.R230C) ( ENST00000374736.8, ENST00000423487.6, ENST00000678995.1 )
rs10811661
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ11), rs1801282 (PPARγ), rs10811661 (CDKN2A/2B), rs13266634 (SLC30A8), rs12779790 (CDC123/CAMK1D), rs7903146 (TCF7L2), rs9282541 (ABCA1) and rs13342692 (SLC16A11) polymorphisms in the genetic background of Maya population to associate their susceptibility to develop T2D.
Pubmed
25839936
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0897719073948909
Year of publication
2015
Drugs