Gene: TGFBR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886039176
rs886039176
TGFBR1
C 0.700 GeneticVariation CLINVAR Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. 30675029

2019
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs111854391
rs111854391
TGFBR1
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: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR Identification and surgical repair of familial thoracic aortic aneurysm and dissection caused by TGFBR1 mutation. 25110237

2014
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys-Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD). 24793577

2014
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR Postoperative mitral leaflet rupture in an infant with Loeys-Dietz syndrome. 25521989

2014
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466

2013
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466

2013
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR TGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating. 22414221

2012
dbSNP: rs113605875
rs113605875
TGFBR1
A 0.700 CausalMutation CLINVAR Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012
dbSNP: rs113605875
rs113605875
TGFBR1
A 0.700 CausalMutation CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634

2011
dbSNP: rs113605875
rs113605875
TGFBR1
A 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: rs1554700672
rs1554700672
TGFBR1
T 0.700 CausalMutation CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634

2011
dbSNP: rs387906697
rs387906697
TGFBR1
T 0.700 CausalMutation CLINVAR Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1. 21358634

2011
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. 19542084

2009
dbSNP: rs111854391
rs111854391
TGFBR1
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: rs113605875
rs113605875
TGFBR1
A 0.700 CausalMutation CLINVAR Aortic dissection in a young man with Loeys-Dietz syndrome. 18455604

2008
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.700 CausalMutation CLINVAR FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670

2006
dbSNP: rs113605875
rs113605875
TGFBR1
A 0.700 CausalMutation CLINVAR Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006
dbSNP: rs113605875
rs113605875
TGFBR1
A 0.700 CausalMutation CLINVAR Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
dbSNP: rs113605875
rs113605875
TGFBR1
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: rs1057524497
rs1057524497
TGFBR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502040
rs1060502040
TGFBR1
T 0.700 CausalMutation CLINVAR