Variant: rs180177374 

    present in Gene: VPS13B;COX6C
    present in Chromosome: 8
    Position on Chromosome: 99875499
    Alleles of this Variant: -/C

rs180177374 in VPS13B;COX6C gene and Cohen syndrome PMID 15141358 2004 Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.