Variant: rs1060500503 

    present in Gene: TTN-AS1;TTN
    present in Chromosome: 2
    Position on Chromosome: 178609774
    Alleles of this Variant: C/A;T

rs1060500503 in TTN-AS1;TTN gene and Cardiomyopathy, Dilated, 1g PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.

PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

rs1060500503 in TTN-AS1;TTN gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.

PMID 25589632 2015 Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease.