Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs771861177
rs771861177
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. 28433477

2017
dbSNP: rs771861177
rs771861177
GMPPB ; RNF123
0.800 GeneticVariation UNIPROT