Gene: ABCA4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1356104318
rs1356104318
ABCA4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs149071415
rs149071415
ABCA4
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553193813
rs1553193813
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs776757706
rs776757706
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853396
rs878853396
ABCA4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853397
rs878853397
ABCA4
C 0.700 GeneticVariation CLINVAR

dbSNP: rs61750645
rs61750645
ABCA4
A 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751374
rs61751374
ABCA4
A 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs76157638
rs76157638
ABCA4
G 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1800553
rs1800553
ABCA4
T 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
dbSNP: rs61749409
rs61749409
ABCA4
A 0.710 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61750654
rs61750654
ABCA4
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
ABCA4
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
ABCA4
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
dbSNP: rs61750138
rs61750138
ABCA4
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
ABCA4
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: rs61748538
rs61748538
ABCA4
A 0.700 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001
dbSNP: rs61752419
rs61752419
ABCA4
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: rs61749451
rs61749451
ABCA4
T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
dbSNP: rs1800728
rs1800728
ABCA4
G 0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537

2005
dbSNP: rs764759172
rs764759172
ABCA4
A 0.700 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011
dbSNP: rs1553186896
rs1553186896
ABCA4
C 0.700 GeneticVariation CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821

2012
dbSNP: rs778234759
rs778234759
ABCA4
T 0.700 GeneticVariation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662

2013