Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517689
rs397517689
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g
A 0.700 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588 2017
dbSNP: rs397517689
rs397517689
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g
A 0.700 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901 2016
dbSNP: rs397517689
rs397517689
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g
A 0.700 CausalMutation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632 2015
dbSNP: rs397517689
rs397517689
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g
A 0.700 CausalMutation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875 2013