Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749409
rs61749409
A 0.710 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

dbSNP: rs1762111
rs1762111
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs76157638
rs76157638
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019

dbSNP: rs1800728
rs1800728
G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs61748552
rs61748552
C 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs61750135
rs61750135
G 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs61751402
rs61751402
T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs61751404
rs61751404
A 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs869312184
rs869312184
T 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016

dbSNP: rs1553192726
rs1553192726
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015

dbSNP: rs1064793014
rs1064793014
C 0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2014

dbSNP: rs1553190559
rs1553190559
T 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013

dbSNP: rs1553192432
rs1553192432
GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013

dbSNP: rs778234759
rs778234759
T 0.700 GeneticVariation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662

2013

dbSNP: rs1553186896
rs1553186896
C 0.700 GeneticVariation CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821

2012

dbSNP: rs764759172
rs764759172
A 0.700 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011

dbSNP: rs1800728
rs1800728
G 0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537

2005

dbSNP: rs61748538
rs61748538
A 0.700 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001

dbSNP: rs61749451
rs61749451
T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001

dbSNP: rs61752419
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

dbSNP: rs61750138
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

dbSNP: rs61751389
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

dbSNP: rs61750654
rs61750654
A 0.700 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

dbSNP: rs61751383
rs61751383
A 0.700 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

dbSNP: rs61751406
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