Variant: rs201227603

present in Gene: HPS3 present in Chromosome: 3 Position on Chromosome: 149145547 Alleles of this Variant: G/A

rs201227603 in HPS3 gene and Hermanski-Pudlak Syndrome PMID 11590544 2001 Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.