ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: MOYAMOYA DISEASE 5 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C3279690
Disease:
MOYAMOYA DISEASE 5 		0.800 GeneticVariation UNIPROT Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C3279690
Disease:
MOYAMOYA DISEASE 5 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121434527
rs121434527
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C3279690
Disease:
MOYAMOYA DISEASE 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434528
rs121434528
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C3279690
Disease:
MOYAMOYA DISEASE 5 		A 0.700 CausalMutation CLINVAR