TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs538081629
rs538081629
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		0.010 GeneticVariation BEFREE The proband mutation A241T carries three possible mutations in complex OCA. 24721949 2015