Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553491220
rs1553491220
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 GeneticVariation CLINVAR Atypical phenotypes in titinopathies explained by second titin mutations. 24395473

2014
dbSNP: rs1553491220
rs1553491220
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: rs1553491220
rs1553491220
TTN ; TTN-AS1
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		C 0.700 GeneticVariation CLINVAR Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). 18948003

2008