Variant: rs80356756 

    present in Gene: ATP6V0A2
    present in Chromosome: 12
    Position on Chromosome: 123748779
    Alleles of this Variant: A/-

rs80356756 in ATP6V0A2 gene and Cutis Laxa, Autosomal Recessive, Type IIA PMID 18157129 2008 Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.