rs28938473
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61750138
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61751407
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61753033
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs61753034
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751408
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR.
|
9466990 |
1998 |
rs61751392
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
|
9781034 |
1998 |
rs61750200
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
|
9503029 |
1998 |
rs121909205
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease.
|
9503029 |
1998 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
rs76157638
|
|
|
0.720 |
GeneticVariation |
BEFREE |
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 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
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 |
rs61751374
|
|
A |
0.710 |
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 |
rs150774447
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.
|
10612508 |
1999 |
rs150774447
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
|
9973280 |
1999 |
rs61750200
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Argl107Cys, Gly1977Ser, Arg2107His, and le2113Met).
|
10458172 |
1999 |
rs1800553
|
|
T |
0.730 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs76157638
|
|
G |
0.720 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
|
10958763 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
|
10711710 |
2000 |
rs61751374
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |