Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488

2011
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 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: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. 11284711

2001
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 8434585

1993
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Molecular analyses of a tyrosinase-negative albino family. 8430701

1993
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711

1992
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278

1992
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. 1905879

1991
dbSNP: rs61754388
rs61754388
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539

1990