Variant: rs763862849 

    present in Gene: RFT1
    present in Chromosome: 3
    Position on Chromosome: 53122376
    Alleles of this Variant: T/C;G

rs763862849 in RFT1 gene and Congenital Disorder Of Glycosylation, Type In PMID 19701946 2009 RFT1 deficiency in three novel CDG patients.

PMID 18313027 2008 Human RFT1 deficiency leads to a disorder of N-linked glycosylation.