GDF2
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | GDF2 |
| GeneCards | GDF2 |
| Diseases | GDF2 |
| wikipedia | GDF2 |
| GDF2 | |
| gopubmed | GDF2 |
| EVS | GDF2 |
| HEFalMp | GDF2 |
| MyGene2 | GDF2 |
| 23andMe | GDF2 |
| # SNPs | 3 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs199804679 | 4.4 | 47,322,922 | |
| rs200330818 | 4.4 | 47,322,871 | |
| rs35129734 | 4.4 | 47,325,491 |
Growth differentiation factor 2 (GDF2) also known as bone morphogenetic protein (BMP)-9 is a protein that in humans is encoded by the GDF2 gene located on chromosome 10.Wikipedia
Mutations in the GDF2 gene (as well as several other genes) may lead to hereditary hemorrhagic telangiectasia (HHT), a condition involving recurrent bleeding due to malformations between arteries and veins. Inherited in a dominant manner, individuals carrying a pathogenic GDF2 gene mutation are advised to follow the ClinGen 'Actionability' recommendations. A summary plus a link to the full recommendations is available here.
