Gene: ABCA4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
dbSNP: rs1762111
rs1762111
ABCA4
G 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1800553
rs1800553
ABCA4
T 0.700 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs61750645
rs61750645
ABCA4
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
ABCA4
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
ABCA4
G 0.700 GeneticVariation CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934

1997
dbSNP: rs1356104318
rs1356104318
ABCA4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs149071415
rs149071415
ABCA4
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553193813
rs1553193813
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs776757706
rs776757706
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs878853396
rs878853396
ABCA4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs878853397
rs878853397
ABCA4
C 0.700 GeneticVariation CLINVAR