Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142336618
rs142336618
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: rs142336618
rs142336618
GMPPB
0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
dbSNP: rs142908436
rs142908436
GMPPB
0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
dbSNP: rs142908436
rs142908436
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: rs202160208
rs202160208
GMPPB
T 0.800 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs202160208
rs202160208
GMPPB
T 0.800 CausalMutation CLINVAR Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
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: rs761714818
rs761714818
GMPPB
0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
dbSNP: rs761714818
rs761714818
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: 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: rs875989850
rs875989850
GMPPB
0.800 GeneticVariation UNIPROT Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations. 28478914

2017
dbSNP: rs875989850
rs875989850
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: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs202160208
rs202160208
GMPPB
T 0.800 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.800 CausalMutation CLINVAR Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype. 25770200

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.800 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142336618
rs142336618
GMPPB
0.800 GeneticVariation UNIPROT GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.800 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
dbSNP: rs142908436
rs142908436
GMPPB
0.800 GeneticVariation UNIPROT GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142908436
rs142908436
GMPPB
A 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs199922550
rs199922550
GMPPB ; RNF123
T 0.800 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs202160208
rs202160208
GMPPB
T 0.800 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs397509424
rs397509424
GMPPB
0.800 GeneticVariation UNIPROT GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015