Variant: rs80356751 

    present in Gene: ATP6V0A2;LOC105370042
    present in Chromosome: 12
    Position on Chromosome: 123722449
    Alleles of this Variant: G/A;T

rs80356751 in ATP6V0A2;LOC105370042 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.