Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. | 23022137 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. | 23022137 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities. | 23022137 | 2012 |
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|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. | 1386496 | 1992 |
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|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. | 1531728 | 1992 |
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|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. | 1386496 | 1992 |
||||
|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. | 1531728 | 1992 |
||||
|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment. | 1386496 | 1992 |
||||
|
0.800 | GeneticVariation | UNIPROT | Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin. | 1531728 | 1992 |
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|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
G | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
0.700 | GeneticVariation | UNIPROT |