Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1078793
rs1078793 		0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs11017928
rs11017928
DOCK1
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs12524310
rs12524310 		0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs12547243
rs12547243
ADCY8
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs149640
rs149640
RGS6
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs1698919
rs1698919 		0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs17567824
rs17567824
ADCY1
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs2725797
rs2725797
LINC02694
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs35693284
rs35693284 		0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs398123942
rs398123942
DMD
A 0.700 CausalMutation CLINVAR Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. 26968818

2018
dbSNP: rs56979833
rs56979833 		0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs710160
rs710160
SHKBP1
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs74643788
rs74643788
XYLT1
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs754118
rs754118
PTPN1
0.700 GeneticVariation GWASCAT Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in duchenne muscular dystrophy. 30014611

2018
dbSNP: rs1556040444
rs1556040444
DMD
T 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017
dbSNP: rs1556503937
rs1556503937
DMD
T 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017
dbSNP: rs1557374667
rs1557374667
DMD
A 0.700 CausalMutation CLINVAR Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center. 27593222

2017
dbSNP: rs398122853
rs398122853
DMD
T 0.700 CausalMutation CLINVAR The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. 27708273

2017
dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan. 28859693

2017
dbSNP: rs373286166
rs373286166
DMD
T 0.700 GeneticVariation CLINVAR A case report with the peculiar concomitance of 2 different genetic syndromes. 27930565

2016
dbSNP: rs398124040
rs398124040
DMD
C 0.700 CausalMutation CLINVAR Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations. 26911353

2016
dbSNP: rs878854366
rs878854366
DMD
C 0.700 GeneticVariation CLINVAR Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 27854218

2016
dbSNP: rs1556806356
rs1556806356
DMD
C 0.700 CausalMutation CLINVAR DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. 25972034

2015
dbSNP: rs794726993
rs794726993
DMD
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs1010666282
rs1010666282
DMD
A 0.700 CausalMutation CLINVAR Screening of Duchenne muscular dystrophy (DMD) mutations and investigating its mutational mechanism in Chinese patients. 25244321

2014