ABCA4, ATP binding cassette subfamily A member 4, 24

N. diseases: 227; N. variants: 372
Disease: Retinal Dystrophies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1356104318
rs1356104318
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs149071415
rs149071415
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1553193813
rs1553193813
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs776757706
rs776757706
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs878853396
rs878853396
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs878853397
rs878853397
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs61750645
rs61750645
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751374
rs61751374
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs76157638
rs76157638
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs1762111
rs1762111
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997
dbSNP: rs1800553
rs1800553
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268 1997
dbSNP: rs61751392
rs61751392
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034 1998
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61750654
rs61750654
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751383
rs61751383
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751406
rs61751406
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61750138
rs61750138
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751389
rs61751389
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61748538
rs61748538
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725 2001
dbSNP: rs61752419
rs61752419
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61749451
rs61749451
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993 2001
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005
dbSNP: rs764759172
rs764759172
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 CausalMutation CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583 2011
dbSNP: rs1553186896
rs1553186896
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821 2012
dbSNP: rs778234759
rs778234759
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662 2013