Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908458
rs121908458
0.010 GeneticVariation BEFREE Lower limb radiology of distal myopathy due to the S60F myotilin mutation. 19590214

2009

dbSNP: rs121908457
rs121908457
0.010 GeneticVariation BEFREE Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. 17698502

2008