Annotation Detail
Information
- Associated Genes
- IRS1
- Associated Variants
-
IRS1 MUTATION
IRS1 MUTATION
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+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 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
rs1387153
MTNR1B c.223+5596C>G ( ENST00000257068.3 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
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 )
NC_000007.14:g.44189469C>T
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+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 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
rs1387153
MTNR1B c.223+5596C>G ( ENST00000257068.3 )
IRS1 p.Gly971Trp (p.G971W) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
IRS1 p.Gly971Arg (p.G971R) ( ENST00000305123.6 )
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 )
NC_000007.14:g.44189469C>T - Associated Disease
- gestational diabetes
- Source Database
- DisGeNET
- Description
- The minor alleles of rs7903146 (TCF7L2), rs12255372 (TCF7L2), rs1799884 (-30G/A, GCK), rs5219 (E23K, KCNJ11), rs7754840 (CDKAL1), rs4402960 (IGF2BP2), rs10830963 (MTNR1B), rs1387153 (MTNR1B) and rs1801278 (Gly972Arg, IRS1) were significantly associated with a higher risk of GDM.
- Pubmed
- 23690305
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00535289257148537
- Year of publication
- 2013
Drugs