| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | GeneticVariation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. | 25775262 | 2015 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. | 23134348 | 2013 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. | 21151602 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families. | 17110911 | 2006 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. | 10393062 | 1999 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. | 10393062 | 1999 |
|||
|
C | 0.700 | CausalMutation | CLINVAR |