Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs727504452
rs727504452
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012

dbSNP: rs727504452
rs727504452
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008

dbSNP: rs727504452
rs727504452
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505

2007

dbSNP: rs727504452
rs727504452
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR The kinase domain of titin controls muscle gene expression and protein turnover. 15802564

2005

dbSNP: rs727504452
rs727504452
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
A 0.700 GeneticVariation CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747

2002