Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs757091387
rs757091387
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy. 27858732

2015
dbSNP: rs757091387
rs757091387
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 24027297

2014
dbSNP: rs757091387
rs757091387
CLTA ; GNE
G 0.700 GeneticVariation CLINVAR Novel GNE mutations in hereditary inclusion body myopathy patients of non-Middle Eastern descent. 20059379

2010