Variant: rs281865108 

    present in Gene: HPS6
    present in Chromosome: 10
    Position on Chromosome: 102065710
    Alleles of this Variant: -/G

rs281865108 in HPS6 gene and HERMANSKY-PUDLAK SYNDROME 6 PMID 19843503 2009 Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

PMID 12548288 2003 Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6.

PMID 17041891 2006 A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.

rs281865108 in HPS6 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.