TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
Disease: Oculocutaneous albinism type 1A ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754363
rs61754363
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation BEFREE Analysis of three individuals with OCA from the Canary Islands showed that one was a compound heterozygote for the G47D mutation and for a novel missense mutation (L216M), one was homozygous for a missense mutation (P81L), and one was heterozygous for the missense mutation P81L. 8434585 1993
dbSNP: rs61754363
rs61754363
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		A 0.810 CausalMutation CLINVAR
dbSNP: rs61754363
rs61754363
Entrez Id: 7299;107984363
Gene Symbol: TYR;LOC107984363
TYR;LOC107984363
CUI: C4551504
Disease:
Oculocutaneous albinism type 1A 		0.810 GeneticVariation UNIPROT