Variant: rs398123001 

    present in Gene: PUF60
    present in Chromosome: 8
    Position on Chromosome: 143818378
    Alleles of this Variant: G/A

rs398123001 in PUF60 gene and VERHEIJ SYNDROME PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.