Variant: rs387906959 

    present in Gene: COG6
    present in Chromosome: 13
    Position on Chromosome: 39723394
    Alleles of this Variant: G/C;T

rs387906959 in COG6 gene and CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl PMID 20605848 2010 Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.