Variant: rs281865084 

    present in Gene: HPS1
    present in Chromosome: 10
    Position on Chromosome: 98425687
    Alleles of this Variant: G/-

rs281865084 in HPS1 gene and Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells PMID 26806224 2016 Super-resolution microscopy as a potential approach to diagnosis of platelet granule disorders.

PMID 20514622 2010 Compound heterozygous mutations in 2 siblings with Hermansky-Pudlak syndrome type 1 (HPS1).

PMID 17365864 2007 Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

PMID 9705234 1998 Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.

PMID 15952982 2005 Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.

PMID 9497254 1998 Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.

rs281865084 in HPS1 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.