Gene: TTN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1009131948
rs1009131948
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
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
A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
dbSNP: rs1057518195
rs1057518195
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
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
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1060500435
rs1060500435
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223

2017
dbSNP: rs1060500471
rs1060500471
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500500
rs1060500500
TTN ; TTN-AS1
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: rs1060500503
rs1060500503
TTN ; TTN-AS1
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: rs1060500503
rs1060500503
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1060500556
rs1060500556
TTN ; TTN-AS1
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: rs1060500586
rs1060500586
TTN ; TTN-AS1
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: rs1131691381
rs1131691381
TTN ; TTN-AS1
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: rs1131691381
rs1131691381
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1131691542
rs1131691542
TTN ; TTN-AS1
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: rs1131691944
rs1131691944
TTN ; TTN-AS1
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: rs1243301263
rs1243301263
TTN ; TTN-AS1
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: rs1243301263
rs1243301263
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1343120755
rs1343120755
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1343120755
rs1343120755
TTN ; TTN-AS1
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: rs1389777522
rs1389777522
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Atlas of the clinical genetics of human dilated cardiomyopathy. 25163546

2015
dbSNP: rs1389777522
rs1389777522
TTN ; TTN-AS1
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: rs1432889079
rs1432889079
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015