Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
0.010 GeneticVariation BEFREE Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD. 18024811

2007
dbSNP: rs368970223
rs368970223
ANO5
T 0.700 GeneticVariation CLINVAR Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. 25891276

2015
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: rs72554656
rs72554656
ATP7A ; PGK1
0.010 GeneticVariation BEFREE In the first patient with the MD phenotype, a mutation within the exon 20 (Gln1288Ter) was found producing a stop codon just prior to the highly conserved ATP binding domain. 11936860

2001
dbSNP: rs869025337
rs869025337
BVES
0.010 GeneticVariation BEFREE POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking. 26642364

2016
dbSNP: rs1555421871
rs1555421871
CAPN3
C 0.700 CausalMutation CLINVAR

dbSNP: rs778768583
rs778768583
CAPN3
C 0.700 CausalMutation CLINVAR

dbSNP: rs886042108
rs886042108
CAPN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
C 0.700 CausalMutation 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: rs1057518925
rs1057518925
COL6A2
G 0.700 GeneticVariation 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

dbSNP: rs886039785
rs886039785
DMD
T 0.700 GeneticVariation CLINVAR

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: rs1553846331
rs1553846331
DOK7
T 0.700 CausalMutation CLINVAR

dbSNP: rs756015202
rs756015202
DOK7
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553521119
rs1553521119
DYSF
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553555585
rs1553555585
DYSF
T 0.700 GeneticVariation CLINVAR

dbSNP: rs200916654
rs200916654
DYSF
C 0.700 GeneticVariation CLINVAR

dbSNP: rs34997054
rs34997054
DYSF
A 0.700 GeneticVariation CLINVAR

dbSNP: rs770905160
rs770905160
DYSF
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121908110
rs121908110
FKRP
G 0.700 CausalMutation CLINVAR

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