Variant: rs121913010 

    present in Gene: DSG2;DSG2-AS1
    present in Chromosome: 18
    Position on Chromosome: 31545820
    Alleles of this Variant: G/A;C;T

rs121913010 in DSG2;DSG2-AS1 gene and Arrhythmogenic Right Ventricular Dysplasia PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 18382419 2008 Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.

rs121913010 in DSG2;DSG2-AS1 gene and Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 20031617 2009 Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 21062920 2011 Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

PMID 19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

PMID 16773573 2006 DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.