Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs920201335
rs920201335
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		T 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886044536
rs886044536
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs886044009
rs886044009
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886044009
rs886044009
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886044009
rs886044009
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886044009
rs886044009
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886042246
rs886042246
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		GGACT 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0234182
Disease: Gowers sign
Gowers sign 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886041287
rs886041287
TTN ; TTN-AS1
CUI: C0018808
Disease: Heart murmur
Heart murmur 		CTG 0.700 GeneticVariation CLINVAR

dbSNP: rs886039145
rs886039145
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		TC 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039145
rs886039145
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		TC 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039145
rs886039145
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		TC 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886039145
rs886039145
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		TC 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886039125
rs886039125
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039125
rs886039125
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		A 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039027
rs886039027
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039027
rs886039027
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 GeneticVariation CLINVAR Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. 25589632

2015
dbSNP: rs886039027
rs886039027
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013
dbSNP: rs886039027
rs886039027
TTN ; TTN-AS1
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		C 0.700 GeneticVariation CLINVAR Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. 23975875

2013