TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Disease: Cardiomyopathy, Dilated, 1g ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72648250
rs72648250
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 28045975 2017
dbSNP: rs72648250
rs72648250
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: rs72648250
rs72648250
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
dbSNP: rs72648250
rs72648250
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012