Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28938473
rs28938473
ABCA4
A 0.700 CausalMutation CLINVAR

dbSNP: rs61750138
rs61750138
ABCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs61751407
rs61751407
ABCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs61753033
rs61753033
ABCA4
G 0.700 CausalMutation CLINVAR

dbSNP: rs61753034
rs61753034
ABCA4
C 0.700 CausalMutation CLINVAR

dbSNP: rs76157638
rs76157638
ABCA4
G 0.720 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
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: rs61751408
rs61751408
ABCA4
A 0.700 CausalMutation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs1800553
rs1800553
ABCA4
T 0.730 CausalMutation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
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: rs61750200
rs61750200
ABCA4
0.020 GeneticVariation BEFREE The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029

1998
dbSNP: rs121909205
rs121909205
ABCA4
0.010 GeneticVariation BEFREE The discovery of a splicing mutation (571: 2A-->G) and missense mutations in the newly identified exons (R18W, R212C) gives additional support to the broad allelic heterogeneity of Stargardt disease. 9503029

1998
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 CausalMutation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease. 9973280

1999
dbSNP: rs76157638
rs76157638
ABCA4
0.720 GeneticVariation BEFREE 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: rs76157638
rs76157638
ABCA4
G 0.720 CausalMutation 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 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: rs61750200
rs61750200
ABCA4
0.020 GeneticVariation BEFREE Compound heterozygous missense mutations were observed in patients with Stargardt disease (Arg212Cys, Argl107Cys, Gly1977Ser, Arg2107His, and le2113Met). 10458172

1999
dbSNP: rs76157638
rs76157638
ABCA4
G 0.720 CausalMutation CLINVAR A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508

1999
dbSNP: rs150774447
rs150774447
ABCA4
T 0.700 GeneticVariation CLINVAR A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508

1999
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 A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751392
rs61751392
ABCA4
G 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: rs1800553
rs1800553
ABCA4
T 0.730 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000
dbSNP: rs76157638
rs76157638
ABCA4
G 0.720 CausalMutation CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087

2000