Variant: rs397517481 

    present in Gene: TTN;TTN-AS1
    present in Chromosome: 2
    Position on Chromosome: 178734327
    Alleles of this Variant: C/A;T

rs397517481 in TTN;TTN-AS1 gene and Neuromuscular Diseases PMID 23975875 2013 Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.