| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. | 23504663 | 2013 |
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|
0.800 | GeneticVariation | UNIPROT | Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. | 16704458 | 2006 |
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|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.710 | GeneticVariation | BEFREE | Mutation analysis of 19 unrelated ROCA individuals revealed a nonsense mutation at codon 166 (S166X) in 17 (45%) of 38 ROCA chromosomes, and a second mutation (368delA) was found in an additional 19 (50%) of 38 chromosomes; mutations were not identified in the remaining 2 ROCA chromosomes. | 9345097 | 1997 |
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|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT | DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. | 23504663 | 2013 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. | 18821858 | 2008 |
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|
0.700 | GeneticVariation | UNIPROT | Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. | 16704458 | 2006 |
||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | CausalMutation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR |