Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1301902450
rs1301902450
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
CUI: C3711389
Disease:
Actin-Accumulation Myopathy
A 0.700 CausalMutation CLINVAR