Variant: rs1057516051

present in Gene: DYSF present in Chromosome: 2 Position on Chromosome: 71660587 Alleles of this Variant: G/-

rs1057516051 in DYSF gene and MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B PMID 27602406 2016 The Clinical Outcome Study for dysferlinopathy: An international multicenter study.