Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606626
rs267606626
ACTA1
0.010 GeneticVariation BEFREE Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 19553116

2009