Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs869312739
rs869312739
ACTA1
0.010 GeneticVariation BEFREE Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. 30732915

2019