Variant: rs550944082 

    present in Gene: POGLUT1
    present in Chromosome: 3
    Position on Chromosome: 119486893
    Alleles of this Variant: T/C;G

rs550944082 in POGLUT1 gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 PMID 27807076 2016 A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.