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 GeneticVariation CLINVAR

dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1970573
Disease: MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO
MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO 		T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1800553
rs1800553
ABCA4
CUI: C3495438
Disease: Macular Degeneration, Age-Related, 2
Macular Degeneration, Age-Related, 2 		T 0.700 CausalMutation CLINVAR

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: C0271093
Disease: Stargardt's disease
Stargardt's disease 		T 0.730 CausalMutation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		T 0.720 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation 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 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
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
dbSNP: rs1800553
rs1800553
ABCA4
CUI: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		T 0.700 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 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 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 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 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: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		T 0.700 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 Loss of peripapillary sparing in non-group I Stargardt disease. 20696155

2010
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: 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: 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: 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: C1858806
Disease: CONE-ROD DYSTROPHY 3 (disorder)
CONE-ROD DYSTROPHY 3 (disorder) 		T 0.700 CausalMutation CLINVAR Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. 22264887

2012