Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Identification of a novel mutation (p.Ile198Thr) in gene TYR in a Pakistani family with nonsyndromic oculocutaneous albinism. 24934919

2014
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663

2013
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A population-based study of autosomal-recessive disease-causing mutations in a founder population. 22981120

2012
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Detection of 53 novel DNA variations within the tyrosinase gene and accumulation of mutations in 17 patients with albinism. 15146472

2004
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). 11858948

2002
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutation analysis of the tyrosinase gene in oculocutaneous albinism. 11295837

2001
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. 10571953

1999
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population. 10987646

1999
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. 10671066

1998
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). 9259202

1997
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Diagnosis of oculocutaneous albinism with molecular analysis. 8644824

1996
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. 8128955

1994
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Initiation codon mutation of the tyrosinase gene as a cause of human albinism. 7955413

1994
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). 7902671

1993
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. 1642278

1992
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. 1487241

1992
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism. 1899321

1991
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. 1943686

1991
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. 2342539

1990
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		0.800 GeneticVariation UNIPROT A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. 1970634

1990
dbSNP: rs104894317
rs104894317
TYR ; LOC107984363
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		A 0.800 CausalMutation CLINVAR