Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730

2015

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. 25521989

2014

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466

2013

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221

2012

dbSNP: rs111854391
rs111854391
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: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670

2006

dbSNP: rs111854391
rs111854391
T 0.700 CausalMutation CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006