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GDF2

From SNPedia
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ClinVarGDF2
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# SNPs3
 Max MagnitudeChromosome positionSummary
rs1998046794.447,322,922
rs2003308184.447,322,871
rs351297344.447,325,491

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.