Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893819
rs104893819
T 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012

dbSNP: rs104893819
rs104893819
T 0.700 CausalMutation CLINVAR Phenotypic heterogeneity of Marfan-like connective tissue disorders associated with mutations in the transforming growth factor-beta receptor genes. 17652900

2007

dbSNP: rs104893819
rs104893819
T 0.700 CausalMutation CLINVAR A Japanese family of typical Loeys-Dietz syndrome with a TGFBR2 mutation. 18084123

2007

dbSNP: rs104893819
rs104893819
T 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006

dbSNP: rs104893819
rs104893819
T 0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004