Annotation Detail
Information
- Associated Genes
- L3MBTL3
- Associated Variants
-
TCF7L2 c.450+24114C>T
(
ENST00000538897.5,
ENST00000352065.10,
ENST00000369397.8,
ENST00000534894.5,
ENST00000355995.9,
ENST00000355717.9,
ENST00000545257.6,
ENST00000277945.12,
ENST00000369395.6,
ENST00000629706.2,
ENST00000627217.3,
ENST00000704414.1 )
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.451-32013G>A ( ENST00000629706.2, ENST00000369395.6, ENST00000277945.12, ENST00000355717.9, ENST00000545257.6, ENST00000627217.3, ENST00000704414.1, ENST00000352065.10, ENST00000369397.8, ENST00000538897.5, ENST00000355995.9, ENST00000534894.5 )
TCF7L2 c.451-18487A>C ( ENST00000369397.8, ENST00000352065.10, ENST00000538897.5, ENST00000355995.9, ENST00000534894.5, ENST00000629706.2, ENST00000277945.12, ENST00000369395.6, ENST00000355717.9, ENST00000545257.6, ENST00000627217.3, ENST00000704414.1 )
TCF7L2 c.552+7162G>C ( ENST00000355995.9, ENST00000534894.5, ENST00000352065.10, ENST00000369397.8, ENST00000538897.5, ENST00000627217.3, ENST00000704414.1, ENST00000629706.2, ENST00000277945.12, ENST00000369395.6, ENST00000355717.9, ENST00000545257.6 )
TCF7L2 c.552+8187T>C ( ENST00000627217.3, ENST00000704414.1, ENST00000369395.6, ENST00000277945.12, ENST00000355717.9, ENST00000545257.6, ENST00000629706.2, ENST00000355995.9, ENST00000534894.5, ENST00000538897.5, ENST00000369397.8, ENST00000352065.10 )
TCF7L2 c.552+11431T>C ( ENST00000627217.3, ENST00000704414.1, ENST00000355717.9, ENST00000545257.6, ENST00000369395.6, ENST00000277945.12, ENST00000629706.2, ENST00000534894.5, ENST00000355995.9, ENST00000538897.5, ENST00000352065.10, ENST00000369397.8 )
TSPAN8 c.-109-25534C>G ( ENST00000393330.6 )
FTO c.46-43484G>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
FTO c.46-43298G>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
FTO c.46-37772C>G ( ENST00000637969.1, ENST00000637001.1, ENST00000471389.6, ENST00000636491.1, ENST00000636218.1 )
FTO c.46-34805G>A ( ENST00000636491.1, ENST00000636218.1, ENST00000637969.1, ENST00000637001.1, ENST00000471389.6 )
FTO c.46-23525T>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
FTO c.46-13587A>G ( ENST00000637969.1, ENST00000637001.1, ENST00000471389.6, ENST00000636491.1, ENST00000636218.1 )
CELF4 c.370-2015T>C ( ENST00000334919.9, ENST00000361795.9, ENST00000420428.7, ENST00000588597.5, ENST00000591282.5, ENST00000591287.5, ENST00000601019.5, ENST00000603232.6 )
CELF4 c.370-3267G>A ( ENST00000334919.9, ENST00000361795.9, ENST00000420428.7, ENST00000588597.5, ENST00000591282.5, ENST00000591287.5, ENST00000601019.5, ENST00000603232.6 )
rs445984
rs1040328
rs990074
rs2223046
rs2834970
L3MBTL3 c.1966+2021C>T ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 )
L3MBTL3 c.2200-2677C>A ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 )
L3MBTL3 c.2200-2677C>T ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 )
TCF7L2 c.450+24114C>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+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.451-32013G>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 )
TCF7L2 c.451-18487A>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.552+7162G>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.552+8187T>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.552+11431T>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 )
TSPAN8 c.-109-25534C>G ( ENST00000393330.6 )
FTO c.46-43484G>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
FTO c.46-43298G>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
FTO c.46-37772C>G ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
FTO c.46-34805G>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
FTO c.46-23525T>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
FTO c.46-13587A>G ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
CELF4 c.370-2015T>C ( ENST00000334919.9, ENST00000361795.9, ENST00000420428.7, ENST00000588597.5, ENST00000591282.5, ENST00000591287.5, ENST00000601019.5, ENST00000603232.6 )
CELF4 c.370-3267G>A ( ENST00000334919.9, ENST00000361795.9, ENST00000420428.7, ENST00000588597.5, ENST00000591282.5, ENST00000591287.5, ENST00000601019.5, ENST00000603232.6 )
rs445984
rs1040328
rs990074
rs2223046
rs2834970
L3MBTL3 c.1966+2021C>T ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 )
L3MBTL3 c.2200-2677C>A ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 )
L3MBTL3 c.2200-2677C>T ( ENST00000361794.7, ENST00000368136.3, ENST00000368139.6, ENST00000526019.5, ENST00000533560.5 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way interactions conditioned on significant pair-wise results, we identified 24 core SNPs in six genes (FTO: rs9939973, rs9940128, rs9922047, rs1121980, rs9939609, rs9930506; TSPAN8: rs1495377; TCF7L2: rs4074720, rs7901695, rs4506565, rs4132670, rs10787472, rs11196205, rs10885409, rs11196208; L3MBTL3: rs10485400, rs4897366; CELF4: rs2852373, rs608489; RUNX1: rs445984, rs1040328, rs990074, rs2223046, rs2834970) that appear to be important for T2D.
- Pubmed
- 23626757
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs