Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554106743
rs1554106743
DSP
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		A 0.700 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs1554106743
rs1554106743
DSP
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		A 0.700 CausalMutation CLINVAR Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. 20716751

2010
dbSNP: rs1554106743
rs1554106743
DSP
CUI: C1843896
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 		A 0.700 CausalMutation CLINVAR Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. 16061754

2005