Variant: rs121908316 

    present in Gene: HPS3
    present in Chromosome: 3
    Position on Chromosome: 149150624
    Alleles of this Variant: C/T

rs121908316 in HPS3 gene and HERMANSKY-PUDLAK SYNDROME 3 PMID 11455388 2001 Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.

PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.