Gene: ABCA4 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs61751374
rs61751374
ABCA4
A 0.710 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs62645944
rs62645944
ABCA4
A 0.710 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800552
rs1800552
ABCA4
T 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1800728
rs1800728
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs201471607
rs201471607
ABCA4
C 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs41292677
rs41292677
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs61751392
rs61751392
ABCA4
G 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs76157638
rs76157638
ABCA4
G 0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs779466403
rs779466403
ABCA4
A 0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
dbSNP: rs1553192726
rs1553192726
ABCA4
T 0.700 CausalMutation CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043

2015
dbSNP: rs863223338
rs863223338
ABCA4
C 0.700 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
dbSNP: rs749526785
rs749526785
ABCA4
G 0.700 GeneticVariation CLINVAR Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. 20554613

2010
dbSNP: rs281865377
rs281865377
ABCA4
TG 0.700 CausalMutation CLINVAR Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001
dbSNP: rs61749451
rs61749451
ABCA4
T 0.700 GeneticVariation CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001
dbSNP: rs61751399
rs61751399
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: rs61751392
rs61751392
ABCA4
G 0.700 GeneticVariation CLINVAR Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. 9781034

1998
dbSNP: rs1064793013
rs1064793013
ABCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553188588
rs1553188588
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs61750639
rs61750639
ABCA4
T 0.700 GeneticVariation CLINVAR

dbSNP: rs61753030
rs61753030
ABCA4
T 0.700 CausalMutation CLINVAR

dbSNP: rs76157638
rs76157638
ABCA4
G 0.700 GeneticVariation CLINVAR