TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 78; N. variants: 567
Disease: Cardiomyopathy, Dilated ×
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72646846
rs72646846
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954 2019
dbSNP: rs72646846
rs72646846
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780 2014
dbSNP: rs72646846
rs72646846
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
dbSNP: rs72646846
rs72646846
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739 2012