Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Next-generation sequencing of ABCA4: High frequency of complex alleles and novel mutations in patients with retinal dystrophies from Central Europe. 26593885

2016
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 GeneticVariation CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131

2015
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: 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: 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