Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051885
rs796051885
TGFB3 ; IFT43
A 0.700 CausalMutation CLINVAR Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. 25835445

2015
dbSNP: rs796051885
rs796051885
TGFB3 ; IFT43
A 0.700 CausalMutation CLINVAR Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndrome. 26184463

2015
dbSNP: rs796051885
rs796051885
TGFB3 ; IFT43
A 0.700 CausalMutation CLINVAR De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features. 24798638

2014