| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.710 | CausalMutation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | CausalMutation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
T | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
C | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
A | 0.700 | CausalMutation | CLINVAR | ||||||
|
T | 0.700 | CausalMutation | CLINVAR | ||||||
|
0.020 | GeneticVariation | BEFREE | The Arg172Trp mutation was confirmed to produce autosomal dominant macular dystrophy. | 8747448 | 1995 |
||||
|
T | 0.700 | GeneticVariation | CLINVAR | RDS/peripherin gene mutations are frequent causes of central retinal dystrophies. | 9279751 | 1997 |
|||
|
T | 0.720 | GeneticVariation | CLINVAR | Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. | 9295268 | 1997 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. | 9425234 | 1998 |
|||
|
T | 0.700 | GeneticVariation | CLINVAR | Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. | 9781034 | 1998 |
|||
|
T | 0.700 | CausalMutation | CLINVAR | Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus. | 10874631 | 1999 |
|||
|
TG | 0.700 | GeneticVariation | CLINVAR | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 11527935 | 2001 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. | 11527935 | 2001 |
|||
|
A | 0.700 | GeneticVariation | CLINVAR | Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. | 14517951 | 2003 |
|||
|
G | 0.700 | GeneticVariation | CLINVAR | Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. | 14517951 | 2003 |