Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933405
rs28933405
TTN
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267607157
rs267607157
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.800 CausalMutation CLINVAR

dbSNP: rs267607155
rs267607155
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		G 0.800 CausalMutation CLINVAR

dbSNP: rs139517732
rs139517732
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.800 CausalMutation CLINVAR

dbSNP: rs138060032
rs138060032
TTN
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		A 0.710 CausalMutation CLINVAR

dbSNP: rs747286444
rs747286444
TTN
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517547
rs397517547
TTN
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517547
rs397517547
TTN
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs397517497
rs397517497
TTN
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs397517497
rs397517497
TTN
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 Truncations of titin causing dilated cardiomyopathy. 22335739

2012
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 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: 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: rs1561445221
rs1561445221
TTN
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554015228
rs1554015228
TTN
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Early-Onset, with Fatal Cardiomyopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs281864928
rs281864928
TTN ; TTN-AS1
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.800 GeneticVariation CLINVAR

dbSNP: rs281864928
rs281864928
TTN ; TTN-AS1
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		T 0.800 CausalMutation CLINVAR

dbSNP: rs267607156
rs267607156
TTN ; TTN-AS1
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.800 CausalMutation CLINVAR

dbSNP: rs869320740
rs869320740
TTN ; TTN-AS1
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		G 0.730 CausalMutation CLINVAR

dbSNP: rs281864931
rs281864931
TTN ; TTN-AS1
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.710 CausalMutation CLINVAR

dbSNP: rs995029896
rs995029896
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs995029896
rs995029896
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
dbSNP: rs995029896
rs995029896
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013