Annotation Detail

Information
Associated Genes
CDKAL1
Associated Variants
rs1111875
rs5015480
rs7923837
CDKAL1 c.371+11426A>C ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
SLC30A8 c.*105G>A ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
SLC30A8 c.*813A>G ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5 )
rs1111875
rs5015480
rs7923837
CDKAL1 c.371+11426A>C ( ENST00000274695.8, ENST00000378610.1 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
SLC30A8 c.*105G>A ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
SLC30A8 c.*813A>G ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
In addition, we also confirmed that three SNPs (rs1111875, rs7923837 and rs5015480) in HHEX , one SNP (rs10946398) in CDKAL1, and three SNPs (rs13266634, rs3802177 and rs11558471) in SLC30A8 were significantly associated with T2D in the population being studied.
Pubmed
20550665
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.420629582278103
Year of publication
2010
Drugs