Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509422
rs397509422
GMPPB ; RNF123
T 0.700 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs397509422
rs397509422
GMPPB ; RNF123
T 0.700 GeneticVariation CLINVAR Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. 23894383

2013
dbSNP: rs397509422
rs397509422
GMPPB ; RNF123
T 0.700 GeneticVariation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
dbSNP: rs397509422
rs397509422
GMPPB ; RNF123
T 0.700 CausalMutation CLINVAR