| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.700 | CausalMutation | CLINVAR | Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. | 26497376 | 2015 |
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|
C | 0.700 | CausalMutation | CLINVAR | Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. | 24265693 | 2013 |
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|
T | 0.700 | CausalMutation | CLINVAR | Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. | 16597330 | 2006 |
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|
GA | 0.700 | CausalMutation | CLINVAR | RP1 protein truncating mutations predominate at the RP1 adRP locus. | 11095597 | 2000 |
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|
G | 0.700 | CausalMutation | CLINVAR | Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. | 10484783 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. | 10391211 | 1999 |
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|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
TA | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 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 | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR |