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
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
ACTA2 ; STAMBPL1
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
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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: rs121434528
rs121434528
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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: rs397516685
rs397516685
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 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: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 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: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 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: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.700 CausalMutation CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780

2012
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
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
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs121434527
rs121434527
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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
ACTA2 ; STAMBPL1 ; ACTA2-AS1
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
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs1057521105
rs1057521105
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs1554841298
rs1554841298
ACTA2 ; STAMBPL1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs777832794
rs777832794
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs112602953
rs112602953
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121434526
rs121434526
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013