Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1207709557
rs1207709557
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711

1992
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: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. 1903591

1991
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 CausalMutation CLINVAR In an inbred Amish kindred, type IB OCA results from homozygosity for a Pro----Leu substitution at codon 406. 1903591

1991
dbSNP: rs104894314
rs104894314
TYR ; LOC107984363
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
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: rs28940876
rs28940876
TYR ; LOC107984363
T 0.710 CausalMutation CLINVAR This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. 1970634

1990
dbSNP: rs28940876
rs28940876
TYR ; LOC107984363
0.710 GeneticVariation BEFREE This mutation, which results in a proline----leucine substitution at codon 81 of the tyrosinase polypeptide (EC 1.14.18.1), was observed in 20% (6 of 30) of oculocutaneous albinism alleles from independent probands, but it was not observed in any normal individuals. 1970634

1990
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
dbSNP: rs28940879
rs28940879
TYR ; LOC107984363
A 0.700 CausalMutation CLINVAR Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. 7704033

1995
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
T 0.730 CausalMutation CLINVAR Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671

1993
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
T 0.730 CausalMutation CLINVAR Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955

1994
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 A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. 8434585

1993
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. 9163730

1997
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Mutational analysis of copper binding by human tyrosinase. 9242509

1997
dbSNP: rs121918167
rs121918167
OCA2
0.010 GeneticVariation BEFREE Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients. 10649493

2000
dbSNP: rs34731820
rs34731820
OCA2
0.010 GeneticVariation BEFREE Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients. 10649493

2000
dbSNP: rs533478642
rs533478642
OCA2
0.010 GeneticVariation BEFREE Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients. 10649493

2000
dbSNP: rs577826548
rs577826548
OCA2
0.010 GeneticVariation BEFREE Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients. 10649493

2000
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation 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: rs104894313
rs104894313
TYR ; LOC107984363
T 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 The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. 11284711

2001