Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112602953
rs112602953
T 0.700 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
T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007

dbSNP: rs112602953
rs112602953
T 0.700 CausalMutation CLINVAR TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432

2012

dbSNP: rs112901682
rs112901682
A 0.700 GeneticVariation CLINVAR

dbSNP: rs112901682
rs112901682
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
A 0.700 CausalMutation CLINVAR Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 21733706

2011

dbSNP: rs121434526
rs121434526
A 0.700 CausalMutation CLINVAR

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

2013

dbSNP: rs387906592
rs387906592
T 0.700 CausalMutation CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747

2012

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

2010

dbSNP: rs387906592
rs387906592
T 0.700 CausalMutation CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362

2011

dbSNP: rs746972765
rs746972765
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794728021
rs794728021
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516685
rs397516685
T 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: rs397516685
rs397516685
T 0.700 GeneticVariation CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009

dbSNP: rs727502878
rs727502878
G 0.700 GeneticVariation CLINVAR

dbSNP: rs193922153
rs193922153
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121912923
rs121912923
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553507180
rs1553507180
G 0.700 CausalMutation CLINVAR

dbSNP: rs869312034
rs869312034
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553507867
rs1553507867
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554799402
rs1554799402
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553517181
rs1553517181
T 0.700 GeneticVariation CLINVAR

dbSNP: rs770974455
rs770974455
T 0.700 GeneticVariation CLINVAR