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

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: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479

2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
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: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24998021

2014
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244

2015
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 24293535

2013
dbSNP: rs727502878
rs727502878
ACTA2 ; STAMBPL1 ; ACTA2-AS1
G 0.700 GeneticVariation 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
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
C 0.700 GeneticVariation CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364

2016
dbSNP: rs112901682
rs112901682
ACTA2 ; STAMBPL1
C 0.700 GeneticVariation CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435

2015