rs72546668, SSUH2;CAV3

N. diseases: 8
Disease: Rippling muscle disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Rippling muscle disease
CUI: C1853698
Disease: Rippling muscle disease
0.010 GeneticVariation BEFREE Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. 22245016 2012