Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 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: rs76157638
rs76157638
ABCA4
G 0.830 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: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. 25921964

2015
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 25283059

2015
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. 25097241

2014
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR [The molecular genetic and clinical findings in two probands with Stargardt disease]. 25640233

2014
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 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: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488

2014
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885

2014
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Disease variants in genomes of 44 centenarians. 25333069

2014
dbSNP: rs76157638
rs76157638
ABCA4
0.830 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: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Personalized genomic disease risk of volunteers. 24082139

2013
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Stargardt disease: towards developing a model to predict phenotype. 23695285

2013
dbSNP: rs76157638
rs76157638
ABCA4
0.830 GeneticVariation UNIPROT Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981

2013
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473

2012
dbSNP: rs1800553
rs1800553
ABCA4
0.830 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: rs1800553
rs1800553
ABCA4
0.830 GeneticVariation BEFREE The G1961E mutation was more frequent in the patients without extensive loss of IS/OS junction (P = 0.01) confirming its association with a milder STGD phenotype. 22661472

2012
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation. 21786275

2012
dbSNP: rs1800553
rs1800553
ABCA4
T 0.830 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012
dbSNP: rs76157638
rs76157638
ABCA4
G 0.830 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012