Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
0.800 GeneticVariation UNIPROT

dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 CausalMutation CLINVAR