rs1356104318
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs149071415
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553193813
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs776757706
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878853396
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs878853397
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1762111
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs1800553
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs61750645
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs76157638
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751392
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
rs61749409
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61750654
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61751383
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61751406
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
|
10090887 |
1999 |
rs61750138
|
|
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
|
|
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 |
rs61748538
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
An analysis of allelic variation in the ABCA4 gene.
|
11328725 |
2001 |
rs61749451
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1).
|
11594993 |
2001 |
rs61752419
|
|
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 |
rs1800728
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
|
15614537 |
2005 |
rs764759172
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of the ABCA4 gene by next-generation sequencing.
|
21911583 |
2011 |
rs1553186896
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy.
|
22229821 |
2012 |
rs1553190559
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
ABCA4 gene screening by next-generation sequencing in a British cohort.
|
23982839 |
2013 |