Gene: DSC2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs777688726
rs777688726
DSC2
G 0.700 GeneticVariation CLINVAR Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. 31568572

2019
dbSNP: rs777688726
rs777688726
DSC2
G 0.700 GeneticVariation CLINVAR RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. 31333075

2019
dbSNP: rs397517408
rs397517408
DSC2
T 0.700 GeneticVariation CLINVAR Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 26743238

2016
dbSNP: rs397517408
rs397517408
DSC2
T 0.700 GeneticVariation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
dbSNP: rs397517404
rs397517404
DSC2
A 0.700 GeneticVariation CLINVAR Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations. 21062920

2011
dbSNP: rs397517408
rs397517408
DSC2
T 0.700 GeneticVariation CLINVAR Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 19863551

2010
dbSNP: rs397517406
rs397517406
DSC2
C 0.700 GeneticVariation CLINVAR Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy. 17186466

2006
dbSNP: rs145476705
rs145476705
DSC2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs377272752
rs377272752
DSC2
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397517393
rs397517393
DSC2
T 0.700 GeneticVariation CLINVAR