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: rs1553190559
rs1553190559
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839 2013
dbSNP: rs1553192432
rs1553192432
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839 2013
dbSNP: rs61749409
rs61749409
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		0.710 GeneticVariation BEFREE Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108 2014
dbSNP: rs201471607
rs201471607
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		0.010 GeneticVariation BEFREE Most patients harbored at least one mutation classified as "severe," the most common of which was the p.N965S variant that had been found previously at a high frequency among patients with ABCA4-associated retinal dystrophies in Denmark. 24713488 2014
dbSNP: rs1064793014
rs1064793014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		C 0.700 GeneticVariation CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811 2014
dbSNP: rs1553192726
rs1553192726
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043 2015
dbSNP: rs1800728
rs1800728
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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
dbSNP: rs61748552
rs61748552
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61750135
rs61750135
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751402
rs61751402
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs61751404
rs61751404
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs869312184
rs869312184
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
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: rs1762111
rs1762111
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
dbSNP: rs76157638
rs76157638
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0854723
Disease:
Retinal Dystrophies 		G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019