| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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0.710 | GeneticVariation | BEFREE | Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation. | 23504663 | 2013 | |||||||
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A | 0.710 | GeneticVariation | CLINVAR | |||||||||
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T | 0.700 | GeneticVariation | CLINVAR | Tyrosinase gene mutations in oculocutaneous albinism 1 (OCA1): definition of the phenotype. | 13680365 | 2003 | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. | 1970634 | 1990 | ||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | CausalMutation | CLINVAR | |||||||||
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G | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | GeneticVariation | CLINVAR | |||||||||
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A | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | Functional validation of the albinism-associated tyrosinase T373K SNP by CRISPR/Cas9-mediated homology-directed repair (HDR) in rabbits. | 30274819 | 2018 | |||||||
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0.010 | GeneticVariation | BEFREE | We demonstrate an association of R45Q and T444I with the albino phenotype by targeted genotyping. | 28982372 | 2017 | |||||||
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0.010 | GeneticVariation | BEFREE | The very rare TYR p.V275F variant, which is a pathogenic allele for recessive albinism, was more common in PD cases than controls in 3 independent cohorts. | 27640074 | 2016 |