Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518925
rs1057518925
COL6A2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs116840805
rs116840805
CAV3 ; SSUH2
0.010 GeneticVariation BEFREE Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. 18509671

2008
dbSNP: rs121908110
rs121908110
FKRP
G 0.700 CausalMutation CLINVAR

dbSNP: rs121908457
rs121908457
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006
dbSNP: rs121908458
rs121908458
MYOT ; LOC101928005
0.010 GeneticVariation BEFREE Interestingly, all three analyzed myotilin missense mutations (S55F, S60F and S60C) do not lead to gross changes in the total amount of myotilin or to aberrant posttranslational modifications in diseased muscle, as observed in a number of muscular dystrophies. 16684602

2006
dbSNP: rs121909518
rs121909518
FLNC ; FLNC-AS1
0.010 GeneticVariation BEFREE We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. 23155419

2012
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. 23768512

2013
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Expanding the phenotype of GMPPB mutations. 25681410

2015
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142336618
rs142336618
GMPPB
G 0.700 CausalMutation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). 27766311

2016
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. 27874200

2017
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. 26133662

2015
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers. 27527004

2016
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
dbSNP: rs1457591395
rs1457591395
WWP1
0.010 GeneticVariation BEFREE In addition, we show that a missense mutation (arginine 440 to glutamine) in WWP1-which is known to cause muscular dystrophy in chickens-increases the ubiquitin ligase-mediated ubiquitination of both β-dystroglycan and WWP1. 29635000

2018
dbSNP: rs1553264624
rs1553264624
LMNA
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265369
rs1553265369
LMNA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553265433
rs1553265433
LMNA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553265436
rs1553265436
LMNA
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553265761
rs1553265761
LMNA
C 0.700 GeneticVariation CLINVAR