Variant: rs1131692146 

    present in Gene: HPS5
    present in Chromosome: 11
    Position on Chromosome: 18291982
    Alleles of this Variant: C/-

rs1131692146 in HPS5 gene and HERMANSKY-PUDLAK SYNDROME 5 PMID 28640947 2017 Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.