Variant: rs121913653 

    present in Gene: MYH7
    present in Chromosome: 14
    Position on Chromosome: 23429040
    Alleles of this Variant: G/A

rs121913653 in MYH7 gene and Distal Myopathy 1 PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 17548557 2007 New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.