Variant: rs104894589 

    present in Gene: LOC100996842;MPDU1
    present in Chromosome: 17
    Position on Chromosome: 7585997
    Alleles of this Variant: T/C

rs104894589 in LOC100996842;MPDU1 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If PMID 11733564 2001 MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.

PMID 11733556 2001 A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).