Variant: rs766602179

present in Gene: HPS5 present in Chromosome: 11 Position on Chromosome: 18296885 Alleles of this Variant: G/-

rs766602179 in HPS5 gene and Hermanski-Pudlak Syndrome PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.