Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1015798796
rs1015798796
G 0.700 CausalMutation CLINVAR

dbSNP: rs104893807
rs104893807
G 0.700 CausalMutation CLINVAR

dbSNP: rs104893809
rs104893809
T 0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004

dbSNP: rs104893809
rs104893809
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: rs104893809
rs104893809
T 0.700 CausalMutation CLINVAR Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms. 20829218

2011

dbSNP: rs104893809
rs104893809
T 0.700 CausalMutation CLINVAR The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. 18827873

2008

dbSNP: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010

dbSNP: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012

dbSNP: rs104893810
rs104893810
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: rs104893810
rs104893810
T 0.700 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. 19159394

2009

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome. 16799921

2006

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172

2015

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638

2010

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248

2005

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. 16251899

2006

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? 21267002

2011

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084

2009

dbSNP: rs104893811
rs104893811
T 0.700 CausalMutation CLINVAR Increased Prevalence of Inflammatory Bowel Disease in Patients with Mutations in Genes Encoding the Receptor Subunits for TGFβ. 27508510

2016

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Multiple facial milia in patients with Loeys-Dietz syndrome. 20956634

2011

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. 19996017

2009

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. 25116393

2014

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006

dbSNP: rs104893815
rs104893815
A 0.700 CausalMutation CLINVAR Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation. 22488992

2012