Variant: rs1554464495 

    present in Gene: COG5
    present in Chromosome: 7
    Position on Chromosome: 107558114
    Alleles of this Variant: C/-

rs1554464495 in COG5 gene and COG5 congenital disorder of glycosylation PMID 23228021 2012 COG5-CDG: expanding the clinical spectrum.