Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
T 0.800 CausalMutation CLINVAR

dbSNP: rs794728021
rs794728021
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR

dbSNP: rs794728021
rs794728021
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT

dbSNP: rs397515325
rs397515325
ACTA2 ; STAMBPL1
C 0.700 CausalMutation CLINVAR

dbSNP: rs727502878
rs727502878
ACTA2 ; STAMBPL1 ; ACTA2-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs751300489
rs751300489
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT

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
0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
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
0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
dbSNP: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018

2007
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: rs121434526
rs121434526
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525

2009
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
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009
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
0.800 GeneticVariation UNIPROT 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
0.800 GeneticVariation UNIPROT 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 Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654

2009