TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Albinism, Oculocutaneous ×
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: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.700 CausalMutation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683 2008
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.700 CausalMutation CLINVAR Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. 13680365 2003
dbSNP: rs104894314
rs104894314
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C0078918
Disease:
Albinism, Oculocutaneous 		T 0.700 CausalMutation CLINVAR In the third patient, type IB OCA results from compound heterozygosity for the same type IB allele (codon 275 Val----Phe) and a novel type IB OCA allele. 1903591 1991