TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267607156
rs267607156
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 GeneticVariation UNIPROT Tibial muscular dystrophy in a Belgian family. 12891679 2003
dbSNP: rs281864928
rs281864928
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 GeneticVariation UNIPROT Tibial muscular dystrophy in a Belgian family. 12891679 2003
dbSNP: rs267607156
rs267607156
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 GeneticVariation UNIPROT Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
dbSNP: rs281864928
rs281864928
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.800 GeneticVariation UNIPROT Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. 12145747 2002
dbSNP: rs267607156
rs267607156
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.800 CausalMutation CLINVAR
dbSNP: rs281864928
rs281864928
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs281864928
rs281864928
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs869320740
rs869320740
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1863599
Disease:
Hereditary Myopathy with Early Respiratory Failure 		0.730 GeneticVariation BEFREE Coexisting cardiac and skeletal muscle involvement is not uncommon in patients with HMERF arising due to the c.951434T>C; (p.Cys31712Arg) TTN mutation. 27511179 2016
dbSNP: rs869320740
rs869320740
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1863599
Disease:
Hereditary Myopathy with Early Respiratory Failure 		0.730 GeneticVariation BEFREE Sanger sequencing for the two previously described TTN mutations in HMERF (p.C30071R in the 119th fibronectin-3 (FN3) domain, and p.R32450W in the kinase domain) was performed in all patients. 23486992 2014
dbSNP: rs869320740
rs869320740
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1863599
Disease:
Hereditary Myopathy with Early Respiratory Failure 		0.730 GeneticVariation BEFREE This proves that the p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. 24444549 2014
dbSNP: rs869320740
rs869320740
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1863599
Disease:
Hereditary Myopathy with Early Respiratory Failure 		G 0.730 CausalMutation CLINVAR
dbSNP: rs281864931
rs281864931
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		0.710 GeneticVariation BEFREE The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. 19911250 2010
dbSNP: rs281864931
rs281864931
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1838244
Disease:
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		G 0.710 CausalMutation CLINVAR
dbSNP: rs35770984
rs35770984
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72646846
rs72646846
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0007193
Disease:
Cardiomyopathy, Dilated 		A 0.700 GeneticVariation CLINVAR Neuromuscular transmission defects in myopathies: Rare but worth searching for. 30536954 2019
dbSNP: rs12614435
rs12614435
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. 29290336 2018
dbSNP: rs2288327
rs2288327
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs2288327
rs2288327
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs2288327
rs2288327
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0004238
Disease:
Atrial Fibrillation 		G 0.700 GeneticVariation GWASCAT Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development. 29290336 2018
dbSNP: rs35504893
rs35504893
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0004238
Disease:
Atrial Fibrillation 		T 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs553526525
rs553526525
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1837342
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		T 0.700 CausalMutation CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560 2018
dbSNP: rs553526525
rs553526525
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		T 0.700 CausalMutation CLINVAR The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy. 29057560 2018
dbSNP: rs922984
rs922984
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0429087
Disease:
Electrocardiogram: P-R interval 		T 0.700 GeneticVariation GWASCAT PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. 30046033 2018
dbSNP: rs10171049
rs10171049
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs1060500435
rs1060500435
Entrez Id: 7273;100506866
Gene Symbol: TTN;TTN-AS1
TTN;TTN-AS1
CUI: C1858763
Disease:
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. 27813223 2017