Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741

2011
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 21288906

2011
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
A 0.800 CausalMutation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741

2011
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
A 0.800 CausalMutation CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136

2011
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
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
ACTA2 ; STAMBPL1
A 0.800 CausalMutation CLINVAR Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716

2015
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
A 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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
ACTA2 ; STAMBPL1 ; ACTA2-AS1
A 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
A 0.800 CausalMutation CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420

2015
dbSNP: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
A 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs397516685
rs397516685
ACTA2 ; STAMBPL1 ; ACTA2-AS1
T 0.800 CausalMutation CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009
dbSNP: rs397516685
rs397516685
ACTA2 ; STAMBPL1 ; ACTA2-AS1
T 0.800 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs794728021
rs794728021
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR

dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
A 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: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736

2014
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741

2011
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134

2013
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
A 0.700 CausalMutation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741

2011
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016