Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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|
A | 0.710 | GeneticVariation | CLINVAR | Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. | 9973280 | 1999 |
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|
|
A | 0.710 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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|
|
A | 0.710 | GeneticVariation | CLINVAR | Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. | 18654668 | 2008 |
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|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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GC | 0.700 | GeneticVariation | CLINVAR | ||||||||||
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||||||
|
|
A | 0.700 | GeneticVariation | CLINVAR |