OCA2 and oculocutaneous albinism type 2: Rs1448484 is located within the OCA2 gene, which when mutated can lead to oculocutaneous albinism type II (MIM# 203200); in addition, it has been previously associated with differences in pigmentation using pooled U.S. African / African-Caribbean population and U.S. European individuals (Shriver, et al., 2003).