Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912997
rs121912997
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs148894066
rs148894066
DSP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554105614
rs1554105614
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108012
rs1554108012
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108152
rs1554108152
DSP
GGAAAATC 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108287
rs1554108287
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554108431
rs1554108431
DSP
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1561703922
rs1561703922
DSP
A 0.700 GeneticVariation CLINVAR

dbSNP: rs397516913
rs397516913
DSP
G 0.700 CausalMutation CLINVAR

dbSNP: rs397516927
rs397516927
DSP
CA 0.700 GeneticVariation 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: rs397516945
rs397516945
DSP
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs397516955
rs397516955
DSP
A 0.700 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092

2006

dbSNP: rs397516955
rs397516955
DSP
A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

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

2014

dbSNP: rs397516956
rs397516956
DSP
CA 0.700 GeneticVariation CLINVAR Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. 16467215

2006

dbSNP: rs397516956
rs397516956
DSP
CA 0.700 GeneticVariation CLINVAR Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. 11063735

2000

dbSNP: rs397516973
rs397516973
DSP
A 0.700 GeneticVariation CLINVAR Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16917092

2006

dbSNP: rs587782927
rs587782927
DSP
C 0.700 GeneticVariation CLINVAR

dbSNP: rs727502994
rs727502994
DSP
TAG 0.700 GeneticVariation CLINVAR

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