rs61749409
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
|
0.710 |
GeneticVariation |
BEFREE |
Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.
|
24444108 |
2014 |
rs61749409
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs1762111
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs76157638
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs1800728
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs61748552
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs61750135
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
G |
0.700 |
CausalMutation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs61751402
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs61751404
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs869312184
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
|
26872967 |
2016 |
rs1553192726
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular characteristics of childhood-onset Stargardt disease.
|
25312043 |
2015 |
rs1064793014
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
|
25066811 |
2014 |
rs1553190559
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |
rs1553192432
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
GC |
0.700 |
GeneticVariation |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |
rs778234759
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
|
23918662 |
2013 |
rs1553186896
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
|
22229821 |
2012 |
rs764759172
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of the ABCA4 gene by next-generation sequencing.
|
21911583 |
2011 |
rs1800728
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
rs61748538
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
rs61749451
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
rs61752419
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
CausalMutation |
CLINVAR |
Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).
|
11379881 |
2001 |
rs61750138
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751389
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61750654
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61751383
|
Entrez Id: |
24 |
Gene Symbol: |
ABCA4 |
ABCA4
|
Retinal Dystrophies
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |