TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940876
rs28940876
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0001916
Disease:
Albinism 		T 0.700 GeneticVariation CLINVAR A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634 1990