Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312739
rs869312739
ACTA1
0.800 GeneticVariation UNIPROT Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 25938801

2015
dbSNP: rs869312739
rs869312739
ACTA1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121909522
rs121909522
ACTA1
G 0.700 CausalMutation CLINVAR