Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hypopigmentation disorder
CUI: C0162835
Disease: Hypopigmentation disorder
0.010 GeneticVariation BEFREE Two mutants, OCA2∗481Thr (c.1441G>A, p.Ala481Thr) and OCA2∗615Arg (c.1844A>G, p.His615Arg), in the OCA2 (oculocutaneous albinism type II) gene are associated with hypopigmentation in East Asians. 21565543 2011