Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554657922
rs1554657922
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy). 24027297

2014
dbSNP: rs1554657922
rs1554657922
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles. 14707127

2004
dbSNP: rs1554657922
rs1554657922
CLTA ; GNE
T 0.700 GeneticVariation CLINVAR Distal myopathy with rimmed vacuoles (DMRV): new GNE mutations and splice variant. 15136692

2004