Variant: rs121908385 

    present in Gene: HPS1
    present in Chromosome: 10
    Position on Chromosome: 98417671
    Alleles of this Variant: C/A;T

rs121908385 in HPS1 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.