Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs. 28118664

2017
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 25698705

2015
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families. 23755871

2013
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR ABCA4 disease progression and a proposed strategy for gene therapy. 19074458

2009
dbSNP: rs1801269
rs1801269
ABCA4
0.810 GeneticVariation BEFREE A patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. 17277736

2007
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR A patient with STGD caused by the homozygous p.Arg1129Leu mutation in the ABCA4 gene was found to be the daughter of a noncarrier mother and a father who was heterozygous for this change. 17277736

2007
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 GeneticVariation CLINVAR Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. 9295268

1997
dbSNP: rs1801269
rs1801269
ABCA4
A 0.810 CausalMutation CLINVAR

dbSNP: rs1801269
rs1801269
ABCA4
0.810 GeneticVariation UNIPROT