Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727272
rs794727272
DMD
0.010 GeneticVariation BEFREE Missense mutation Lys18Asn in dystrophin that triggers X-linked dilated cardiomyopathy decreases protein stability, increases protein unfolding, and perturbs protein structure, but does not affect protein function. 25340340

2014
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. 21396098

2011
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene. 1549596

1992
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase. 19367636

2009
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Small mutations of the DMD gene in Taiwanese families. 18583217

2008
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China. 25612904

2015
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. 15351422

2004
dbSNP: rs104894787
rs104894787
DMD
A 0.700 CausalMutation CLINVAR How does type 1 diabetes develop?: the notion of homicide or β-cell suicide revisited. 21525508

2011
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Characterization of two nonsense mutations in the human dystrophin gene. 10320864

1998
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. 7668256

1995
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Novel mutations of dystrophin gene in DMD patients detected by rapid scanning in biplex exons DHPLC analysis. 17145200

2007
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. 19937601

2009
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. 8281150

1993
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysis. 19409785

2009
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Point mutations in Czech DMD/BMD patients and their phenotypic outcome. 19783145

2009
dbSNP: rs104894790
rs104894790
DMD
A 0.700 CausalMutation CLINVAR Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. 10533061

1999
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. 17041906

2007
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. 10909857

2000
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online. 10094565

1999
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre. 15351422

2004
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy. 17259292

2007
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. 20485447

2010
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Dystrophin nonsense mutations can generate alternative rescue transcripts in lymphocytes. 18652600

2008
dbSNP: rs104894797
rs104894797
DMD
A 0.700 CausalMutation CLINVAR Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test. 9544849

1998