Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064793814
rs1064793814
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs112240298
rs112240298
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 24503780

2014
dbSNP: rs140743001
rs140743001
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs1408345511
rs1408345511
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553577362
rs1553577362
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553603152
rs1553603152
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553603456
rs1553603456
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553607425
rs1553607425
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553691320
rs1553691320
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553707780
rs1553707780
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553741321
rs1553741321
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1553742630
rs1553742630
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		AC 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs1559415567
rs1559415567
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1559877046
rs1559877046
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs200797552
rs200797552
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs202234172
rs202234172
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs267607155
rs267607155
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Severe DCM phenotype of patient harboring RBM20 mutation S635A can be modeled by patient-specific induced pluripotent stem cell-derived cardiomyocytes. 28941705

2017
dbSNP: rs267607155
rs267607155
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR HEART DISEASE. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. 26315439

2015
dbSNP: rs267607155
rs267607155
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs267607155
rs267607155
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. 11788824

2002
dbSNP: rs267607155
rs267607155
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		G 0.700 GeneticVariation CLINVAR Familial dilated cardiomyopathy locus maps to chromosome 2q31. 10051295

1999
dbSNP: rs368200299
rs368200299
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR