TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0268494
Disease:
Oculocutaneous albinism type 1 		0.010 GeneticVariation BEFREE One patient is homozygous for the previously known V275F mutation but has an extremely mild OCA phenotype and has no eye features typical of OCA. 11295837 2001