Annotation Detail

Information
Associated Genes
SLC30A8
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 )
TCF7L2 c.552+40609G>A ( ENST00000629706.2, ENST00000277945.12, ENST00000369395.6, ENST00000355717.9, ENST00000545257.6, ENST00000627217.3, ENST00000704414.1, ENST00000352065.10, ENST00000369397.8, ENST00000538897.5, ENST00000355995.9, ENST00000534894.5 )
PCSK2 c.885+4535T>C ( ENST00000262545.7, ENST00000377899.5, ENST00000536609.1 )
PCSK1 c.286-843T>C ( ENST00000311106.8, ENST00000508626.5 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
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 )
TCF7L2 c.552+40609G>A ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
PCSK2 c.885+4535T>C ( ENST00000262545.7, ENST00000377899.5, ENST00000536609.1 )
PCSK1 c.286-843T>C ( ENST00000311106.8, ENST00000508626.5 )
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
Associated Disease
Diabetes Mellitus, Non-Insulin-Dependent
Source Database
DisGeNET
Description
A case-control study was performed in Han Chinese subjects with normal control (n=152) and T2DM (n=227), we genotyped rs7903146 and rs11196218 at TCF7L2, rs13266634 at SLC30A8, rs3811951 at PCSK1 and rs2021785 at PCSK2.
Pubmed
21437630
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.339815256661862
Year of publication
2012
Drugs