Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61749409
rs61749409
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.710 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs878853397
rs878853397
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs878853396
rs878853396
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs869312184
rs869312184
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs778234759
rs778234759
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662

2013
dbSNP: rs776757706
rs776757706
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs764759172
rs764759172
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583

2011
dbSNP: rs76157638
rs76157638
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs76157638
rs76157638
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61752419
rs61752419
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881

2001
dbSNP: rs61751406
rs61751406
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR 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: rs61751404
rs61751404
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61751402
rs61751402
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61751392
rs61751392
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
dbSNP: rs61751389
rs61751389
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751383
rs61751383
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61751374
rs61751374
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61750654
rs61750654
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs61750645
rs61750645
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61750138
rs61750138
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61750135
rs61750135
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61749451
rs61749451
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
dbSNP: rs61748552
rs61748552
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016
dbSNP: rs61748538
rs61748538
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725

2001
dbSNP: rs1800728
rs1800728
ABCA4
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967

2016