Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760251358
rs760251358
DMD
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: 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: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy. 28501893

2017
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 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation. 26310427

2015
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: 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 Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs142908436
rs142908436
GMPPB
A 0.700 GeneticVariation CLINVAR Clinical features of the myasthenic syndrome arising from mutations in GMPPB. 27147698

2016
dbSNP: rs975757101
rs975757101
ANO5
0.010 GeneticVariation BEFREE Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping. 24239059

2014
dbSNP: rs1565930588
rs1565930588
HSPB8
T 0.700 GeneticVariation CLINVAR Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy. 29029362

2018
dbSNP: rs1057518925
rs1057518925
COL6A2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908110
rs121908110
FKRP
G 0.700 CausalMutation CLINVAR

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

dbSNP: rs1553521119
rs1553521119
DYSF
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553555585
rs1553555585
DYSF
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553846331
rs1553846331
DOK7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555421871
rs1555421871
CAPN3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1556962271
rs1556962271
DMD
AAATG 0.700 GeneticVariation CLINVAR

dbSNP: rs1557058294
rs1557058294
DMD
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557396600
rs1557396600
DMD
C 0.700 GeneticVariation CLINVAR