Variant: rs144811578 

    present in Gene: TMEM43
    present in Chromosome: 3
    Position on Chromosome: 14130930
    Alleles of this Variant: A/G

rs144811578 in TMEM43 gene and EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT PMID 21391237 2011 TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.