Annotation Detail
Information
- Associated Genes
- GNPDA2
- Associated Variants
-
MTCH2 c.681+590C>T
(
ENST00000302503.8,
ENST00000530428.2 )
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 )
rs17782313
rs2815752
rs10938397
MTCH2 c.681+590C>T ( ENST00000302503.8, ENST00000530428.2 )
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 )
rs17782313
rs2815752
rs10938397 - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- Five other SNPs (SH2B1 rs7498665, MTCH2 rs4752856, MC4R rs17782313, NEGR1 rs2815752 and GNPDA2 rs10938397) were significantly associated with obesity.
- Pubmed
- 19164386
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.152942950698469
- Year of publication
- 2009
Drugs