rs765403861, NEB

N. diseases: 1
Disease: Nemaline Myopathy 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014
Nemaline Myopathy 2
CUI: C1850569
Disease: Nemaline Myopathy 2
0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880 2006