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
dbSNP: rs796051880
rs796051880
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0268494
Disease:
Oculocutaneous albinism type 1 		T 0.700 GeneticVariation CLINVAR Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. 26167114 2015