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

2016

dbSNP: rs397516607
rs397516607
A 0.700 CausalMutation CLINVAR A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. 27496873

2016

dbSNP: rs267607004
rs267607004
A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. 23861363

2013

dbSNP: rs267607002
rs267607002
A 0.700 GeneticVariation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2012

dbSNP: rs267607002
rs267607002
A 0.700 GeneticVariation CLINVAR King of hearts: a splicing factor rules cardiac proteins. 22561820

2012

dbSNP: rs267607002
rs267607002
A 0.700 GeneticVariation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012

dbSNP: rs267607003
rs267607003
T 0.700 CausalMutation CLINVAR RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. 22466703

2012

dbSNP: rs267607003
rs267607003
T 0.700 CausalMutation CLINVAR Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. 22004663

2012

dbSNP: rs267607003
rs267607003
T 0.700 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs267607004
rs267607004
A 0.700 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs727504763
rs727504763
G 0.700 GeneticVariation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs267607002
rs267607002
A 0.700 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs267607002
rs267607002
A 0.700 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs267607003
rs267607003
T 0.700 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs267607004
rs267607004
A 0.700 CausalMutation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs727504763
rs727504763
G 0.700 GeneticVariation CLINVAR Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. 19712804

2009

dbSNP: rs1564664312
rs1564664312
A 0.700 CausalMutation CLINVAR

dbSNP: rs563762318
rs563762318
A 0.700 GeneticVariation CLINVAR

dbSNP: rs727504859
rs727504859
A 0.700 GeneticVariation CLINVAR