Finally, rare single-nucleotide variants (SNVs) in genes encompassed by the region have been linked to various disorders, such as Bernard-Soulier syndrome (MIM: 231200), caused by SNVs in GP1BB (MIM: 138720),9 or CEDNIK (MIM: 609528) syndrome, caused by SNVs in SNAP29 (MIM: 604202).10 The gene discussed is GP1BB; the disease is Bernard-Soulier syndrome.