Variant: rs752074481 

    present in Gene: DTNBP1
    present in Chromosome: 6
    Position on Chromosome: 15523011
    Alleles of this Variant: CTCT/-;CT

rs752074481 in DTNBP1 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.