Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517776
rs397517776
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 CausalMutation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs397517776
rs397517776
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 CausalMutation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs397517776
rs397517776
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: rs397517776
rs397517776
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: rs397517776
rs397517776
TTN ; TTN-AS1
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012