Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
0.730 GeneticVariation BEFREE Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of TYR and the p.Asp486Tyr and c.1045-15 T > G alleles of OCA2 are the most common causes of OCA in Pakistani families. 22734612

2012
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
0.730 GeneticVariation BEFREE Compound heterozygous mutations (c.832C>T and c.929_930insC) in the TYR gene may be responsible for partial clinical manifestations of OCA, while the homozygous missense mutation c.814G>A (p.Glu272Lys) in the SLC45A2 gene may not be associated with OCA. 27829221

2016
dbSNP: rs62645904
rs62645904
TYR ; LOC107984363
0.730 GeneticVariation BEFREE Two novel deletions (c.937del8, c.1379del2) and a previously known nonsense mutation (R278X) in the TYR gene were identified from a total of 8 oculocutaneous albinism patients in India. 15635296

2004
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: 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 GeneticVariation CLINVAR Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects. 21906913

2011
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 18821858

2008
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. 27775880

2017
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Mutational mapping of the catalytic activities of human tyrosinase. 1429711

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 GeneticVariation CLINVAR Mutational analysis of copper binding by human tyrosinase. 9242509

1997
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. 19320745

2009
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488

2011
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population. 22734612

2012
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations. 26167114

2015
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1). 25216246

2014
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277

2009
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar. 24123366

2014
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683

2008
dbSNP: rs104894313
rs104894313
TYR ; LOC107984363
T 0.700 GeneticVariation CLINVAR A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097

2010
dbSNP: rs61754365
rs61754365
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683

2008
dbSNP: rs61754365
rs61754365
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277

2009
dbSNP: rs61754365
rs61754365
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene. 16170149

2005
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014

2015
dbSNP: rs61754381
rs61754381
TYR ; LOC107984363
A 0.700 GeneticVariation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704

2008