Variant: rs376663459 

    present in Gene: COG4
    present in Chromosome: 16
    Position on Chromosome: 70514350
    Alleles of this Variant: G/A

rs376663459 in COG4 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj PMID 19494034 2009 Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

PMID 21185756 2011 Identification of the first COG-CDG patient of Indian origin.