Annotation Detail
Information
- Associated Genes
- TBX1
- Associated Variants
-
SIM1 c.*2215A>G
(
ENST00000369208.8 )
SIM1 p.Pro352Ser (p.P352S) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 p.Pro352Thr (p.P352T) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 c.*2215A>G ( ENST00000369208.8 )
SIM1 p.Pro352Ser (p.P352S) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 p.Pro352Thr (p.P352T) ( ENST00000262901.4, ENST00000369208.8 )
SIM1 c.*2004_*2005insT
SIM1 c.*2004_*2005insT - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- A nominal evidence of association was found for the nonsynonymous variant P352T C/A (rs3734354) (P = 0.01, OR = 0.81 (0.70-0.95)), the +2,004 TGA -/insT SNP (rs35180395) (P = 0.02, OR = 1.21 (1.02-1.43)), the +2,215A/G TGA SNP (rs9386126) (P = 0.002, OR = 0.81 (0.71-0.93)), and pooled childhood/adult obesity.
- Pubmed
- 20075856
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs