Annotation Detail

Information
Associated Genes
TCF7L2
Associated Variants
TCF7L2 c.450+29705T>C ( ENST00000629706.2, ENST00000355717.9, ENST00000545257.6, ENST00000277945.12, ENST00000369395.6, ENST00000627217.3, ENST00000704414.1, ENST00000352065.10, ENST00000369397.8, ENST00000538897.5, ENST00000534894.5, ENST00000355995.9 )
TCF7L2 c.450+31658A>T ( ENST00000629706.2, ENST00000369395.6, ENST00000277945.12, ENST00000355717.9, ENST00000545257.6, ENST00000627217.3, ENST00000704414.1, ENST00000369397.8, ENST00000352065.10, ENST00000538897.5, ENST00000355995.9, ENST00000534894.5 )
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.451-10969T>C ( ENST00000627217.3, ENST00000704414.1, ENST00000629706.2, ENST00000355717.9, ENST00000545257.6, ENST00000369395.6, ENST00000277945.12, ENST00000534894.5, ENST00000355995.9, ENST00000369397.8, ENST00000352065.10, ENST00000538897.5 )
KCNQ1 c.1795-29246C>T ( ENST00000526095.2, ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
KCNQ1 c.1795-21928T>G ( ENST00000155840.12, ENST00000526095.2, ENST00000496887.7, ENST00000646564.2, ENST00000335475.6, ENST00000713725.1 )
KCNQ1 c.1795-10451C>T ( ENST00000713725.1, ENST00000646564.2, ENST00000335475.6, ENST00000526095.2, ENST00000496887.7, ENST00000155840.12 )
TCF7L2 c.450+29705T>C ( 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.450+31658A>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.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.451-10969T>C ( ENST00000277945.12, ENST00000352065.10, ENST00000355717.9, ENST00000355995.9, ENST00000369395.6, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2, ENST00000704414.1 )
KCNQ1 c.1795-29246C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-21928T>G ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
KCNQ1 c.1795-10451C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
Associated Disease
gestational diabetes
Source Database
DisGeNET
Description
Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotype (CTTC: rs7901695, rs4506565, rs7903146, rs12243326; P=2.16 x 10(-06); OR=2.95) and a KCNQ1 haplotype (TTT: rs2237892, rs163184, rs2237897; P=1.98 x 10(-05); OR=0.55).
Pubmed
25973943
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.014254392523343
Year of publication
2015
Drugs