Annotation Detail
Information
- Associated Genes
- TSPAN8
- 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 )
rs1111875
rs5015480
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000528731.1, ENST00000339994.5, ENST00000682350.1, ENST00000682764.1 )
KCNQ1 c.1795-29246C>T ( ENST00000526095.2, ENST00000496887.7, ENST00000155840.12, ENST00000713725.1, ENST00000646564.2, ENST00000335475.6 )
EXT2 c.1693-500G>C ( ENST00000395673.8, ENST00000533608.7, ENST00000358681.8, ENST00000683000.1, ENST00000343631.4, ENST00000682359.1, ENST00000682711.1, ENST00000684533.1 )
EXT2 c.1837-51T>C ( ENST00000682359.1, ENST00000343631.4, ENST00000683000.1, ENST00000358681.8, ENST00000533608.7, ENST00000395673.8, ENST00000684533.1, ENST00000682711.1 )
EXT2 c.1966-41T>C ( ENST00000684533.1, ENST00000682711.1, ENST00000533608.7, ENST00000395673.8, ENST00000682359.1, ENST00000343631.4, ENST00000683000.1, ENST00000358681.8 )
MTNR1B c.223+5596C>G ( ENST00000257068.3 )
rs1153188
TSPAN8 c.-110+8029G>A ( ENST00000393330.6 )
FTO c.46-27777C>A ( ENST00000637001.1, ENST00000637969.1, ENST00000471389.6, ENST00000636218.1, ENST00000636491.1 )
FTO c.46-23525T>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
NOTCH2 c.875-5592C>A ( ENST00000256646.7 )
THADA p.Thr1187Ala (p.T1187A) ( ENST00000405006.8, ENST00000405975.7 )
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+11861T>G ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
rs4607103
rs9472138
JAZF1 c.115+39526A>G ( ENST00000283928.10 )
rs564398
rs10811661
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 )
rs1111875
rs5015480
KCNJ11 p.Val337Ile (p.V337I) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNJ11 p.Lys23Glu (p.K23E) ( ENST00000339994.5, ENST00000528731.1, ENST00000682350.1, ENST00000682764.1 )
KCNQ1 c.1795-29246C>T ( ENST00000155840.12, ENST00000335475.6, ENST00000496887.7, ENST00000526095.2, ENST00000646564.2, ENST00000713725.1 )
EXT2 c.1693-500G>C ( ENST00000343631.4, ENST00000358681.8, ENST00000395673.8, ENST00000533608.7, ENST00000682359.1, ENST00000682711.1, ENST00000683000.1, ENST00000684533.1 )
EXT2 c.1837-51T>C ( ENST00000343631.4, ENST00000358681.8, ENST00000395673.8, ENST00000533608.7, ENST00000682359.1, ENST00000682711.1, ENST00000683000.1, ENST00000684533.1 )
EXT2 c.1966-41T>C ( ENST00000343631.4, ENST00000358681.8, ENST00000395673.8, ENST00000533608.7, ENST00000682359.1, ENST00000682711.1, ENST00000683000.1, ENST00000684533.1 )
MTNR1B c.223+5596C>G ( ENST00000257068.3 )
rs1153188
TSPAN8 c.-110+8029G>A ( ENST00000393330.6 )
FTO c.46-27777C>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 )
NOTCH2 c.875-5592C>A ( ENST00000256646.7 )
THADA p.Thr1187Ala (p.T1187A) ( ENST00000405006.8, ENST00000405975.7 )
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+11861T>G ( ENST00000346192.7, ENST00000382199.7, ENST00000421047.3, ENST00000457616.6 )
rs4607103
rs9472138
JAZF1 c.115+39526A>G ( ENST00000283928.10 )
rs564398
rs10811661 - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we genotyped 1279 Japanese subjects (556 men and 723 women), who underwent computed tomography for measurements of visceral fat area (VFA) and subcutaneous fat area (SFA) for the following single-nucleotide polymorphisms (SNPs): NOTCH2 rs10923931, THADA rs7578597, PPARG rs1801282, ADAMTS9 rs4607103, IGF2BP2 rs1470579, VEGFA rs9472138, JAZF1 rs864745, CDKN2A/CDKN2B rs564398 and rs10811661, HHEX rs1111875 and rs5015480, TCF7L2 rs7901695, KCNQ1 rs2237892, KCNJ11 rs5215 and rs5219, EXT2 rs1113132, rs11037909, and rs3740878, MTNR1B rs10830963, DCD rs1153188, TSPAN8/LGR5 rs7961581, and FTO rs8050136 and rs9939609.
- Pubmed
- 22377712
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0571561542286497
- Year of publication
- 2012
Drugs