Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells. 26604136

2016

dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2012

dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR King of hearts: a splicing factor rules cardiac proteins. 22561820

2012

dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012

dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs267607002
rs267607002
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009