Annotation Detail

Information
Associated Genes
CDKAL1
Associated Variants
TCF7L2 c.552+9017G>T ( ENST00000538897.5, ENST00000352065.10, ENST00000369397.8, ENST00000355995.9, ENST00000534894.5, ENST00000369395.6, ENST00000277945.12, ENST00000355717.9, ENST00000545257.6, ENST00000629706.2, ENST00000627217.3, ENST00000704414.1 )
rs7923837
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
IGF2BP2 c.239+11861T>G ( 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 )
CDKAL1 c.371+30101A>G ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
rs10811661
TCF7L2 c.552+9017G>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 )
rs7923837
IGF2BP2 c.239+29254C>A ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
IGF2BP2 c.239+11861T>G ( 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 )
CDKAL1 c.371+30101A>G ( 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 our case-control subjects, susceptibility to type 2 diabetes was replicated in TCF7L2 (rs12255372), CDKAL1 (rs7756992, rs7754840), HHEX (rs7923837), IGF2BP2 (rs4402960 and rs1470579), CDKN2A/B (rs10811661), and SLC30A8 (rs13266634).
Pubmed
19033397
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.420629582278103
Year of publication
2009
Drugs