Annotation Detail

Information
Associated Genes
KCNJ11
Associated Variants
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 )
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
CDKAL1 c.371+11642G>C ( ENST00000274695.8, ENST00000378610.1 )
CDKAL1 c.371+11642G>T ( ENST00000274695.8, ENST00000378610.1 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individuals with the GT/TT of IGF2BP2 rs4402960, GG/GC of CDKAL1 rs7754840, or CC of KCNJ11 rs5215, which are known to be related to type 2 diabetes in East Asians.
Pubmed
25755232
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.465515535975549
Year of publication
2015
Drugs