Annotation Detail

Information
Associated Genes
TCF7L2
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 p.Ala560= (p.A560=) ( ENST00000627217.3, ENST00000629706.2, ENST00000355717.9, ENST00000545257.6, ENST00000277945.12, ENST00000534894.5, ENST00000355995.9, ENST00000369397.8, ENST00000538897.5 )
APOA5 p.Ser19Leu (p.S19L) ( ENST00000673688.1, ENST00000227665.9, ENST00000542499.5 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000542499.5, ENST00000227665.9, ENST00000673688.1 )
FTO c.46-23525T>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
IL6 p.Leu161Pro (p.L161P) ( ENST00000258743.10, ENST00000401630.7, ENST00000404625.5, ENST00000407492.5, ENST00000485300.1 )
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 p.Ala560= (p.A560=) ( ENST00000277945.12, ENST00000355717.9, ENST00000355995.9, ENST00000369397.8, ENST00000534894.5, ENST00000538897.5, ENST00000545257.6, ENST00000627217.3, ENST00000629706.2 )
APOA5 p.Ser19Leu (p.S19L) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
APOA5 p.Ser19Trp (p.S19W) ( ENST00000227665.9, ENST00000542499.5, ENST00000673688.1 )
FTO c.46-23525T>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
IL6 p.Leu161Pro (p.L161P) ( ENST00000258743.10, ENST00000401630.7, ENST00000404625.5, ENST00000407492.5, ENST00000485300.1 )
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
The minor allele of rs9939609 (FTO), rs7903146 (TCF7L2), C56G (APOA5), T1131C (APOA5), C482T (APOC3), C455T (APOC3) and 174G>C (IL6) were more prevalent in subjects with MetS, whereas the minor allele of Taq-1B (CETP) was less prevalent in subjects with the MetS.
Pubmed
21749608
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.129001189040368
Year of publication
2011
Drugs