Variant: rs281864928 

    present in Gene: TTN;TTN-AS1
    present in Chromosome: 2
    Position on Chromosome: 178527148
    Alleles of this Variant: A/C;G;T

rs281864928 in TTN;TTN-AS1 gene and TIBIAL MUSCULAR DYSTROPHY, TARDIVE PMID 12891679 2003 Tibial muscular dystrophy in a Belgian family.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.