Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607004
rs267607004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR Whole exome sequencing identifies a causal RBM20 mutation in a large pedigree with familial dilated cardiomyopathy. 23861363

2013

dbSNP: rs267607004
rs267607004
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 CausalMutation CLINVAR Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. 20590677

2010

dbSNP: rs267607004
rs267607004
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