| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
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 | CausalMutation | CLINVAR | Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. | 26872967 | 2016 |
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|
G | 0.700 | CausalMutation | CLINVAR | Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. | 26103963 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. | 25356976 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. | 24154662 | 2014 |
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|
T | 0.700 | CausalMutation | CLINVAR | High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. | 22025579 | 2011 |
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|
TA | 0.700 | CausalMutation | CLINVAR | Cone-rod dystrophy and a frameshift mutation in the PROM1 gene. | 19718270 | 2009 |
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|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |