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: rs1213930919
rs1213930919
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1553543413
rs1553543413
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		AT 0.700 GeneticVariation CLINVAR

dbSNP: rs574660186
rs574660186
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		A 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs794729340
rs794729340
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869178171
rs869178171
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869312099
rs869312099
TTN ; TTN-AS1
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		T 0.700 CausalMutation CLINVAR