Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509424
rs397509424
GMPPB
0.800 GeneticVariation UNIPROT Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. 28433477

2017
dbSNP: rs397509424
rs397509424
GMPPB
0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
dbSNP: rs397509424
rs397509424
GMPPB
0.800 GeneticVariation UNIPROT GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs397509424
rs397509424
GMPPB
0.800 GeneticVariation UNIPROT Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
dbSNP: rs397509424
rs397509424
GMPPB
A 0.800 CausalMutation CLINVAR