Variant: rs745590426 

    present in Gene: ATP6V0A2
    present in Chromosome: 12
    Position on Chromosome: 123712642
    Alleles of this Variant: -/C

rs745590426 in ATP6V0A2 gene and Congenital disorder of glycosylation type 1L PMID 19321599 2009 Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.