Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR [The molecular genetic and clinical findings in two probands with Stargardt disease]. 25640233

2014
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		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: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation. 21786275

2012
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473

2012
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 CausalMutation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		T 0.830 GeneticVariation CLINVAR

dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473

2012
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 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: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579

2011
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR Loss of peripapillary sparing in non-group I Stargardt disease. 20696155

2010
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000