Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa. | 28056120 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies. | 25943428 | 2015 |
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|
T | 0.700 | GeneticVariation | CLINVAR | The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. | 25999674 | 2015 |
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|
T | 0.700 | CausalMutation | CLINVAR | Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. | 21987686 | 2011 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. | 21987686 | 2011 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. | 21147909 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa. | 21147909 | 2011 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GT | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
GCCAC | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR |