Annotation Detail
Information
- Associated Genes
- VEGFA
- Associated Variants
-
TGFB1 c.-1347T>C
(
ENST00000539627.5,
ENST00000604123.5 )
NC_000003.12:g.30605668A>G
VEGFA SNV
TGFB1 c.-1347T>C ( ENST00000539627.5, ENST00000604123.5 )
NC_000003.12:g.30605668A>G
VEGFA SNV - Associated Disease
- congenital heart defects
- Source Database
- DisGeNET
- Description
- To evaluate the impact of transforming growth factor-β1 (TGFβ1), TGFβ receptor II (TGFβR2) and vascular endothelial growth factor (VEGF) polymorphisms on conotruncal heart defects susceptibility, we genotyped six functional polymorphisms TGFβ1 rs1800469 C>T, TGFβR2 rs3087465 G>A, VEGF -2578C>A, -1498T>C, -634G>C and +936C>T in a hospital based case-control study of 244 conotruncal heart defects cases and 136 non-CHD controls in a Chinese population.
- Pubmed
- 24443223
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125548389573445
- Year of publication
- 2014
Drugs