NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
Disease: Nemaline Myopathy 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112610938
rs112610938
Entrez Id: 4703;55183
Gene Symbol: NEB;RIF1
NEB;RIF1
CUI: C1850569
Disease:
Nemaline Myopathy 2 		G 0.700 GeneticVariation CLINVAR Mutation update: the spectra of nebulin variants and associated myopathies. 25205138 2014