Annotation Detail
Information
- Associated Genes
- NEGR1
- Associated Variants
-
rs925946
NC_000012.12:g.49853685G>A
SH2B1 p.Thr484Ala (p.T484A) ( ENST00000322610.12, ENST00000684370.1, ENST00000538342.5, ENST00000618521.4, ENST00000395532.8, ENST00000707128.1, ENST00000337120.9 )
SH2B1 p.Thr484Ser (p.T484S) ( ENST00000395532.8, ENST00000707128.1, ENST00000618521.4, ENST00000538342.5, ENST00000322610.12, ENST00000684370.1, ENST00000337120.9 )
FTO c.46-23525T>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
rs2568958
rs7561317
rs10938397
rs925946
NC_000012.12:g.49853685G>A
SH2B1 p.Thr484Ala (p.T484A) ( ENST00000322610.12, ENST00000337120.9, ENST00000395532.8, ENST00000538342.5, ENST00000618521.4, ENST00000684370.1, ENST00000707128.1 )
SH2B1 p.Thr484Ser (p.T484S) ( ENST00000322610.12, ENST00000337120.9, ENST00000395532.8, ENST00000538342.5, ENST00000618521.4, ENST00000684370.1, ENST00000707128.1 )
FTO c.46-23525T>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
rs2568958
rs7561317
rs10938397 - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- In the meta-analysis of 42 studies for 11 obesity/BMI-associated loci, we observed a statistically significant association of the FTO rs9939609 polymorphism (66 425 T2D cases/239 689 normoglycaemic subjects; P = 1·00 × 10(-41) ) and six other variants with T2D risk (17 915 T2D cases/27 531 normoglycaemic individuals: n = 40 629-130 001; all P < 0·001 for SH2B1 rs7498665, FAIM2 rs7138803, TMEM18 rs7561317, GNPDA2 rs10938397, BDNF rs925946 and NEGR1 rs2568958).
- Pubmed
- 24528214
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.154571601930951
- Year of publication
- 2014
Drugs