Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398124172
rs398124172
NEB
G 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138

2014
dbSNP: rs398124172
rs398124172
NEB
G 0.700 GeneticVariation CLINVAR Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 16917880

2006