Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749420
rs61749420
A 0.800 GeneticVariation 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: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108

2014

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013

dbSNP: rs61749420
rs61749420
A 0.800 GeneticVariation CLINVAR Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 23776498

2013

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. 18977788

2009

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708

2001

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT An analysis of allelic variation in the ABCA4 gene. 11328725

2001

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000

dbSNP: rs61749420
rs61749420
A 0.800 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT An analysis of ABCR mutations in British patients with recessive retinal dystrophies. 10634594

2000

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 10746567

2000

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710

2000

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508

1999

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT 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: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. 10206579

1999

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. 9503029

1998

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 9490294

1998

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998

dbSNP: rs61749420
rs61749420
0.800 GeneticVariation UNIPROT A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997