Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479

2013
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362

2011
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.800 GeneticVariation UNIPROT De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
T 0.800 CausalMutation CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336

2010