Gene: ABCA4 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 25698705

2015
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976

2015
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. 22968130

2013
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 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
dbSNP: rs201471607
rs201471607
ABCA4
C 0.810 CausalMutation CLINVAR Association between genotype and phenotype in families with mutations in the ABCA4 gene. 24453473

2014
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108

2014
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 28181551

2017
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 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
dbSNP: rs61749409
rs61749409
ABCA4
A 0.810 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 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
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 CausalMutation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61751402
rs61751402
ABCA4
T 0.810 CausalMutation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014