rs116840778, SSUH2;CAV3

N. diseases: 7
Disease: Muscular Dystrophies, Limb-Girdle ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
0.010 GeneticVariation BEFREE Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 12939441 2003