Gene: ABCA4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553192432
rs1553192432
ABCA4
GC 0.700 GeneticVariation CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839

2013
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: rs61750138
rs61750138
ABCA4
T 0.700 GeneticVariation CLINVAR A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000
dbSNP: rs61751389
rs61751389
ABCA4
A 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: 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