Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909520
rs121909520
ACTA1
0.010 GeneticVariation BEFREE The de novo missense mutation N117S in skeletal muscle α‑actin 1 causes a mild form of congenital nemaline myopathy. 27357517

2016