Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 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 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 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 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 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 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 Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248

2005