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: 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