Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy. 20864495

2010
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Skin and heart: une liaison dangereuse. 19558499

2009
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. 19279339

2009
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity. 19095136

2008
dbSNP: rs727504443
rs727504443
DSP
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. 10594734

1999