Variant: rs1008745697 

    present in Gene: MAN2B1
    present in Chromosome: 19
    Position on Chromosome: 12649341
    Alleles of this Variant: C/T

rs1008745697 in MAN2B1 gene and alpha-Mannosidosis PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.