Gene: ACTA2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766734961
rs766734961
ACTA2 ; STAMBPL1 ; ACTA2-AS1
0.010 GeneticVariation BEFREE The mutation R256H is of particular interest because it also causes patent ductus arteriosus and moyamoya disease. 22753406

2012
dbSNP: rs387906592
rs387906592
ACTA2 ; STAMBPL1
0.010 GeneticVariation BEFREE One new mutation (R179H, heterozygous) in exon 6 of ACTA2 was found in one patient with MMD. 20970362

2011