Gene: TTN ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs139517732
rs139517732
TTN
T 0.800 CausalMutation CLINVAR

dbSNP: rs267607155
rs267607155
TTN
G 0.800 CausalMutation CLINVAR

dbSNP: rs267607157
rs267607157
TTN
A 0.800 CausalMutation CLINVAR

dbSNP: rs747286444
rs747286444
TTN
A 0.700 GeneticVariation 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 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
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 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs1060500399
rs1060500399
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500402
rs1060500402
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500419
rs1060500419
TTN ; TTN-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500420
rs1060500420
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR

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: 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: rs1060500442
rs1060500442
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500457
rs1060500457
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500479
rs1060500479
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500483
rs1060500483
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1060500489
rs1060500489
TTN ; TTN-AS1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500495
rs1060500495
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 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
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: rs1060500513
rs1060500513
TTN ; TTN-AS1
G 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015