Annotation Detail
Information
- Associated Genes
- KCNJ11
- 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 )
rs1111875
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000541395.5, ENST00000257555.11, ENST00000400024.6, ENST00000544413.2 )
FTO c.46-27777C>A ( ENST00000637001.1, ENST00000637969.1, ENST00000471389.6, ENST00000636218.1, ENST00000636491.1 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000309576.11, ENST00000397010.7, ENST00000397000.6, ENST00000287820.10, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
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 )
NC_000007.14:g.44189469C>T
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000427715.2, ENST00000456015.7, ENST00000519688.5, ENST00000521243.5 )
rs10811661
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 )
rs1111875
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
FTO c.46-27777C>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
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 )
NC_000007.14:g.44189469C>T
SLC30A8 p.Arg325Trp (p.R325W) ( ENST00000456015.7, ENST00000519688.5, ENST00000521243.5, ENST00000427715.2 )
rs10811661 - Associated Disease
- gestational diabetes
- Source Database
- DisGeNET
- Description
- 13 SNPs (FTO rs8050136, CDKAL1 rs7754840 and rs7756992, CDKN2A/2B rs10811661, HHEX rs1111875, IGF2BP2 rs1470579 and rs4402960, SLC30A8 rs13266634, TCF7L2 rs7903146, PPARG rs1801282, GCK rs1799884, HNF1A rs1169288, and KCNJ11 rs5219) were genotyped in 793 women with GDM after a median follow-up of 57 months.
- Pubmed
- 22591707
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00917294182393789
- Year of publication
- 2012
Drugs