Variant: rs1762111 

    present in Gene: ABCA4
    present in Chromosome: 1
    Position on Chromosome: 94021934
    Alleles of this Variant: A/G

rs1762111 in ABCA4 gene and Cone-Rod Dystrophies PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1762111 in ABCA4 gene and Retinal Dystrophies PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1762111 in ABCA4 gene and STARGARDT DISEASE 1 (disorder) PMID 23143460 2012 Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 9295268 1997 Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.

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 23953153 2013 Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.