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

2013
dbSNP: rs1553192432
rs1553192432
ABCA4
GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
dbSNP: rs61748538
rs61748538
ABCA4
A 0.700 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001
dbSNP: rs764759172
rs764759172
ABCA4
A 0.700 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011
dbSNP: rs1553192726
rs1553192726
ABCA4
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
dbSNP: rs61749451
rs61749451
ABCA4
T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
dbSNP: rs1064793014
rs1064793014
ABCA4
C 0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811

2014
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: 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: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs76157638
rs76157638
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997