Gene: TTN-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs553526525
rs553526525
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560

2018
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: 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: rs1559175090
rs1559175090
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. 28416588

2017
dbSNP: rs72648250
rs72648250
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations. 28045975

2017
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029

2017
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Clinical and Pathological Findings of a Korean Family with Pathogenic Variants of the TTN Gene. 27868403

2017
dbSNP: rs794729265
rs794729265
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. 28877744

2017
dbSNP: rs794729279
rs794729279
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
dbSNP: rs397517689
rs397517689
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. 26735901

2016
dbSNP: rs727505284
rs727505284
TTN ; TTN-AS1
A 0.700 CausalMutation CLINVAR Genetic basis of familial dilated cardiomyopathy patients undergoing heart transplantation. 26899768

2016
dbSNP: rs794729343
rs794729343
TTN ; TTN-AS1
GT 0.700 GeneticVariation CLINVAR Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders. 27353043

2016
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: 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: 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: 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: 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
dbSNP: rs1060500526
rs1060500526
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: 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: rs1060503941
rs1060503941
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: rs1064792916
rs1064792916
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