Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139517732
rs139517732
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475

2005
dbSNP: rs139517732
rs139517732
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
dbSNP: rs139517732
rs139517732
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417

2002
dbSNP: rs139517732
rs139517732
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.800 CausalMutation CLINVAR

dbSNP: rs267607155
rs267607155
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475

2005
dbSNP: rs267607155
rs267607155
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417

2002
dbSNP: rs267607155
rs267607155
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
dbSNP: rs267607155
rs267607155
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		G 0.800 CausalMutation CLINVAR

dbSNP: rs267607157
rs267607157
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy. 16465475

2005
dbSNP: rs267607157
rs267607157
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Titin mutations as the molecular basis for dilated cardiomyopathy. 11846417

2002
dbSNP: rs267607157
rs267607157
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		0.800 GeneticVariation UNIPROT Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
dbSNP: rs267607157
rs267607157
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs1060500399
rs1060500399
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500402
rs1060500402
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500419
rs1060500419
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500420
rs1060500420
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223

2017
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1060500442
rs1060500442
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500457
rs1060500457
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 GeneticVariation CLINVAR