ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Moyamoya Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766734961
rs766734961
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C0026654
Disease:
Moyamoya Disease 		0.010 GeneticVariation BEFREE The mutation R256H is of particular interest because it also causes patent ductus arteriosus and moyamoya disease. 22753406 2012