Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs760549861
rs760549861
ABCA4
A 0.710 CausalMutation CLINVAR Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 25283059

2015
dbSNP: rs760549861
rs760549861
ABCA4
0.710 GeneticVariation BEFREE ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. 23419329

2013
dbSNP: rs760549861
rs760549861
ABCA4
A 0.710 CausalMutation CLINVAR ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation. 23419329

2013
dbSNP: rs61751374
rs61751374
ABCA4
0.710 GeneticVariation BEFREE 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: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation 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: rs760549861
rs760549861
ABCA4
A 0.710 CausalMutation CLINVAR Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications. 23143460

2012
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903

2009
dbSNP: rs760549861
rs760549861
ABCA4
A 0.710 CausalMutation CLINVAR Are microarrays useful in the screening of ABCA4 mutations in Italian patients affected by macular degenerations? 18652558

2008
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129

2005
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991

2004
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710

2000
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 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: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 9466990

1998
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy. 29186038

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Novel Complex ABCA4 Alleles in Brazilian Patients With Stargardt Disease: Genotype-Phenotype Correlation. 29114839

2017
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients. 27820952

2016
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Simultaneous Expression of ABCA4 and GPR143 Mutations: A Complex Phenotypic Manifestation. 27367509

2016
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. 25910913

2015
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526

2015
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa. 26229699

2015
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015