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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|
T | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
A | 0.700 | CausalMutation | CLINVAR | Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. | 26497376 | 2015 |
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|
CT | 0.700 | CausalMutation | CLINVAR | Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. | 26497376 | 2015 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. | 21602930 | 2011 |
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|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |