rs148066812, OCA2

N. diseases: 1
Disease: Albinism, Oculocutaneous ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.010 GeneticVariation BEFREE Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. 22734612 2012