Gene: DSP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141026028
rs141026028
DSP
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs141026028
rs141026028
DSP
T 0.700 GeneticVariation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs141026028
rs141026028
DSP
T 0.700 GeneticVariation CLINVAR Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations. 28442525

2017
dbSNP: rs1554108859
rs1554108859
DSP
TA 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1561701401
rs1561701401
DSP
G 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs1561702640
rs1561702640
DSP
T 0.700 GeneticVariation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs1561703363
rs1561703363
DSP
C 0.700 GeneticVariation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs1561704475
rs1561704475
DSP
G 0.700 GeneticVariation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs794728137
rs794728137
DSP
AG 0.700 CausalMutation CLINVAR Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation. 28527814

2017
dbSNP: rs140474226
rs140474226
DSP
T 0.700 CausalMutation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs1554106742
rs1554106742
DSP
T 0.700 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016
dbSNP: rs1057517903
rs1057517903
DSP
C 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139

2015
dbSNP: rs113726158
rs113726158
DSP
G 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139

2015
dbSNP: rs1236464864
rs1236464864
DSP
G 0.700 CausalMutation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315

2015
dbSNP: rs1554106830
rs1554106830
DSP
G 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139

2015
dbSNP: rs1554107741
rs1554107741
DSP
T 0.700 GeneticVariation CLINVAR Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy. 25227139

2015
dbSNP: rs794728124
rs794728124
DSP
T 0.700 CausalMutation CLINVAR Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 25616645

2015
dbSNP: rs794728137
rs794728137
DSP
AG 0.700 CausalMutation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015
dbSNP: rs1057517903
rs1057517903
DSP
C 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs113726158
rs113726158
DSP
G 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs1554106743
rs1554106743
DSP
A 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs1554106830
rs1554106830
DSP
G 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs1554107741
rs1554107741
DSP
T 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs1554108012
rs1554108012
DSP
T 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs397516955
rs397516955
DSP
A 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014