Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057516374
rs1057516374
Entrez Id: 1211;10020
Gene Symbol: CLTA;GNE
CLTA;GNE
CUI: C1853926
Disease:
NONAKA MYOPATHY
A 0.700 GeneticVariation CLINVAR Mutational spectrum and clinical features in 35 unrelated mainland Chinese patients with GNE myopathy. 25986339 2015