Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752697861
rs752697861
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		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
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 CausalMutation CLINVAR Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. 28611029

2017
dbSNP: rs878854324
rs878854324
TTN ; TTN-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs869312112
rs869312112
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs794729338
rs794729338
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		TA 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs794729338
rs794729338
TTN ; TTN-AS1
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		TA 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs758279518
rs758279518
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs758279518
rs758279518
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs753798236
rs753798236
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		G 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs753798236
rs753798236
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		G 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs749705939
rs749705939
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs749705939
rs749705939
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504843
rs727504843
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504660
rs727504660
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503586
rs727503586
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012