rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.
|
22264887 |
2012 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Biochemical defects in ABCR protein variants associated with human retinopathies.
|
11017087 |
2000 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy.
|
19217903 |
2009 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
|
9295268 |
1997 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
[The molecular genetic and clinical findings in two probands with Stargardt disease].
|
25640233 |
2014 |
rs1800553
|
|
T |
0.830 |
GeneticVariation |
CLINVAR |
|
|
|
rs1800553
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs1800553
|
|
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
|
|
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
|
|
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
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
|
16103129 |
2005 |
rs1800553
|
|
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
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.
|
22025579 |
2011 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.
|
22661473 |
2012 |
rs1800553
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation.
|
21786275 |
2012 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Given an STGD incidence of 1/10,000, homozygosity for the 2588G-->C mutation or compound heterozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.
|
10090887 |
1999 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy.
|
25283059 |
2015 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies.
|
24713488 |
2014 |
rs76157638
|
|
G |
0.830 |
GeneticVariation |
CLINVAR |
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
|
9054934 |
1997 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
rs76157638
|
|
G |
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 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
|
25082885 |
2014 |
rs76157638
|
|
G |
0.830 |
CausalMutation |
CLINVAR |
Personalized genomic disease risk of volunteers.
|
24082139 |
2013 |