Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913002
rs121913002
DES
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 GeneticVariation BEFREE Of interest, the same I451M mutation has previously been reported in patients with cardiomyopathy and no signs of skeletal myopathy. 12609507

2003