Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.750 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
T | 0.740 | GeneticVariation | CLINVAR | Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. | 2215617 | 1990 |
|||
|
G | 0.740 | GeneticVariation | CLINVAR | ||||||
|
T | 0.730 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
A | 0.730 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
A | 0.730 | GeneticVariation | CLINVAR | Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. | 1833777 | 1991 |
|||
|
A | 0.720 | CausalMutation | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 |
|||
|
T | 0.720 | GeneticVariation | CLINVAR | Rhodopsin mutations in autosomal dominant retinitis pigmentosa. | 8401533 | 1993 |
|||
|
A | 0.710 | GeneticVariation | CLINVAR | ||||||
|
T | 0.710 | GeneticVariation | CLINVAR | ||||||
|
G | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
G | 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 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies. | 11139241 | 2001 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. | 1301135 | 1992 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR |