Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112602953
rs112602953
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: rs121434526
rs121434526
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: rs121434527
rs121434527
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: rs121434528
rs121434528
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: rs397516685
rs397516685
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: rs112602953
rs112602953
T 0.800 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015

dbSNP: rs112602953
rs112602953
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs121434526
rs121434526
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs121434526
rs121434526
A 0.800 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: rs121434526
rs121434526
A 0.800 CausalMutation CLINVAR Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716

2015

dbSNP: rs121434527
rs121434527
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs121434528
rs121434528
A 0.800 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: rs121434528
rs121434528
A 0.800 CausalMutation CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420

2015

dbSNP: rs121434528
rs121434528
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs397516685
rs397516685
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs112602953
rs112602953
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs112602953
rs112602953
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: rs121434526
rs121434526
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs121434526
rs121434526
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: rs121434527
rs121434527
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: rs121434527
rs121434527
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs121434528
rs121434528
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs121434528
rs121434528
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: rs397516685
rs397516685
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014

dbSNP: rs397516685
rs397516685
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