rs59962885, DES

N. diseases: 11
Disease: Disorder of skeletal muscle ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
0.010 GeneticVariation BEFREE A heterozygous A337P mutation was identified in a family with an adult-onset skeletal myopathy and mild cardiac involvement. 9697706 1998