rs1114167445, SPTBN4

N. diseases: 15
Disease: Increased variability in muscle fiber diameter ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Increased variability in muscle fiber diameter
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413 2017