Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR Extreme phenotypes of Loeys Dietz syndrome. 28225382

2017

dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012

dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618

2008

dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921

2006

dbSNP: rs863223852
rs863223852
T 0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004