TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs749979474
rs749979474
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0001916
Disease:
Albinism
T 0.700 GeneticVariation CLINVAR Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 13680365 2003