rs1800553
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe.
|
26593885 |
2016 |
rs1800553
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
rs1800553
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene.
|
22427542 |
2012 |
rs1800553
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs1800553
|
|
CONE-ROD DYSTROPHY 3 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs1800553
|
|
Macular Degeneration, Age-Related, 2
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1800553
|
|
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
|
T |
0.700 |
SusceptibilityMutation
|
CLINVAR |
|
|
|
rs1800553
|
|
Macular dystrophy
|
T |
0.720 |
GeneticVariation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs1800553
|
|
Macular dystrophy
|
T |
0.720 |
GeneticVariation
|
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs1800553
|
|
Retinal Dystrophies
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration.
|
25921964 |
2015 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
[The molecular genetic and clinical findings in two probands with Stargardt disease].
|
25640233 |
2014 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.
|
25097241 |
2014 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
|
28118664 |
2017 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
|
24265693 |
2013 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
|
25087612 |
2014 |
rs1800553
|
|
STARGARDT DISEASE 1 (disorder)
|
T |
0.830 |
CausalMutation
|
CLINVAR |
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.
|
21786275 |
2012 |