present in Gene: ABCA4
present in Chromosome: 1
Position on Chromosome: 94041354
Alleles of this Variant: A/G;T
rs1047376 in
ABCA4 gene and
STARGARDT DISEASE 1 (disorder)
PMID 28118664 2017 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.
PMID 25066811 2014 Genetic and clinical analysis of ABCA4-associated disease in African American patients.