Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517749
rs397517749
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated
C 0.700 GeneticVariation CLINVAR Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. 16733766 2006