Gene: TTN-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794266
rs1064794266
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1064794472
rs1064794472
TTN ; TTN-AS1
TA 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1064794472
rs1064794472
TTN ; TTN-AS1
TA 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1064796112
rs1064796112
TTN ; TTN-AS1
G 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1064796112
rs1064796112
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
dbSNP: rs1064796230
rs1064796230
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1064796230
rs1064796230
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223

2017
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs112188483
rs112188483
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: rs112188483
rs112188483
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
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: rs1179247052
rs1179247052
TTN ; TTN-AS1
T 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: rs1260821931
rs1260821931
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
dbSNP: rs1260821931
rs1260821931
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs1260821931
rs1260821931
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
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