ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		T 0.800 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		A 0.800 CausalMutation CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
dbSNP: rs121434528
rs121434528
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs121434528
rs121434528
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs121434528
rs121434528
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C2673186
Disease:
Aortic Aneurysm, Familial Thoracic 6 		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: rs1800682
rs1800682
Entrez Id: 59;355
Gene Symbol: ACTA2;FAS
ACTA2;FAS
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
dbSNP: rs1800682
rs1800682
Entrez Id: 59;355
Gene Symbol: ACTA2;FAS
ACTA2;FAS
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		A 0.800 GeneticVariation GWASDB A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014