Gene: TTN-AS1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397517735
rs397517735
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs397517750
rs397517750
TTN ; TTN-AS1
TA 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs397517776
rs397517776
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs574660186
rs574660186
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs72646846
rs72646846
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503552
rs727503552
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503586
rs727503586
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503602
rs727503602
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727503607
rs727503607
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504531
rs727504531
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504660
rs727504660
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504843
rs727504843
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504851
rs727504851
TTN ; TTN-AS1
T 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs794729338
rs794729338
TTN ; TTN-AS1
TA 0.700 CausalMutation CLINVAR Truncations of titin causing dilated cardiomyopathy. 22335739

2012
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. 17444505

2007
dbSNP: rs397517749
rs397517749
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy. 16733766

2006
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR The kinase domain of titin controls muscle gene expression and protein turnover. 15802564

2005
dbSNP: rs727504452
rs727504452
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747

2002
dbSNP: rs112188483
rs112188483
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs112240298
rs112240298
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1408345511
rs1408345511
TTN ; TTN-AS1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1553479603
rs1553479603
TTN ; TTN-AS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553577362
rs1553577362
TTN ; TTN-AS1
A 0.700 GeneticVariation CLINVAR