Gene: DSP ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504443
rs727504443
DSP
A 0.700 GeneticVariation CLINVAR Skin and heart: une liaison dangereuse. 19558499

2009
dbSNP: rs727504443
rs727504443
DSP
A 0.700 GeneticVariation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734

1999
dbSNP: rs727504443
rs727504443
DSP
A 0.700 GeneticVariation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339

2009
dbSNP: rs727504498
rs727504498
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs727504738
rs727504738
DSP
AGCTCGAGTCCCTCG 0.700 GeneticVariation CLINVAR

dbSNP: rs727505077
rs727505077
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs727505115
rs727505115
DSP
A 0.700 GeneticVariation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751

2010
dbSNP: rs730880093
rs730880093
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs794728136
rs794728136
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs869025398
rs869025398
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs869025399
rs869025399
DSP
G 0.700 GeneticVariation CLINVAR

dbSNP: rs879255521
rs879255521
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs397516913
rs397516913
DSP
G 0.700 CausalMutation CLINVAR

dbSNP: rs397516943
rs397516943
DSP
T 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397516943
rs397516943
DSP
T 0.700 CausalMutation CLINVAR Incremental value of cardiac magnetic resonance imaging in arrhythmic risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23810894

2013
dbSNP: rs397516943
rs397516943
DSP
T 0.700 CausalMutation CLINVAR Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 25616645

2015
dbSNP: rs397516943
rs397516943
DSP
T 0.700 CausalMutation CLINVAR Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. 26850880

2016
dbSNP: rs397516943
rs397516943
DSP
T 0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093

2017
dbSNP: rs727503000
rs727503000
DSP
TA 0.700 CausalMutation CLINVAR Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. 21859740

2011
dbSNP: rs727503000
rs727503000
DSP
TA 0.700 CausalMutation CLINVAR Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells. 26850880

2016
dbSNP: rs727503000
rs727503000
DSP
TA 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751

2010