Gene: TGFBR1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 21522183

2011
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
dbSNP: rs111426349
rs111426349
TGFBR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670

2006
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs111426349
rs111426349
TGFBR1
0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511

2009
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. 16791849

2006
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511

2009
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT Aneurysm syndromes caused by mutations in the TGF-beta receptor. 16928994

2006
dbSNP: rs111854391
rs111854391
TGFBR1
T 0.800 CausalMutation CLINVAR

dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. 16596670

2006
dbSNP: rs111854391
rs111854391
TGFBR1
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. 21522183

2011
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs113605875
rs113605875
TGFBR1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014