Variant: rs367543072 

    present in Gene: B3GALNT2
    present in Chromosome: 1
    Position on Chromosome: 235470872
    Alleles of this Variant: C/T

rs367543072 in B3GALNT2 gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 PMID 23453667 2013 Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.