Variant: rs121908904 

    present in Gene: AP3B1
    present in Chromosome: 5
    Position on Chromosome: 78129219
    Alleles of this Variant: A/C

rs121908904 in AP3B1 gene and HERMANSKY-PUDLAK SYNDROME 2 PMID 10024875 1999 Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.