Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. 26084686

2015

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Identification of nuclear retention domains in the RBM20 protein. 23886709

2013

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. 23861363

2013

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Rare variant mutations identified in pediatric patients with dilated cardiomyopathy. 21483645

2011

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 GeneticVariation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs267607004
rs267607004
CUI: C2750995
Disease: Cardiomyopathy, Dilated, 1DD
Cardiomyopathy, Dilated, 1DD
A 0.800 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009