Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 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: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs61751374
rs61751374
ABCA4
0.820 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: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Stargardt disease caused by a rare combination of double homozygous mutations. 24509150

2013
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation BEFREE To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. 22312191

2012
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR To report genetic and phenotypic discordance across two generations of a family with autosomal recessive Stargardt disease (STGD1) and to compare pathogenicities of the G1961E and A1038V alleles of the ATP-binding cassette transporter, subfamily A, member 4 (ABCA4) gene. 22312191

2012
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. 18977788

2009
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation BEFREE In order to further understand the contribution of this gene to the susceptibility to STGD and RP, we analyzed three unrelated STGD families and one autosomal recessive RP family specifically for the more common variants (A1038V, G1961E, 2588G-->C, R943Q or 2828G-->A) in the ABCA4 gene. 18506364

2008
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61751374
rs61751374
ABCA4
A 0.820 CausalMutation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881

2001
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies. 11385708

2001
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT An analysis of allelic variation in the ABCA4 gene. 11328725

2001
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710

2000
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 10746567

2000
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT An analysis of ABCR mutations in British patients with recessive retinal dystrophies. 10634594

2000
dbSNP: rs61751374
rs61751374
ABCA4
0.820 GeneticVariation UNIPROT Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999