ABCA4 rs121912660: what the research says
A well-documented pathogenic missense change in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
What each genotype means
Typical ABCA4 genotype
This genotype represents the common, non-variant form of the ABCA4 gene at this position. It is not associated with the pathogenic changes linked to Stargardt disease or cone-rod dystrophy in this specific location.
This is the most common genotype found in the general population across all ancestries.
Carrier of ABCA4 variant
This genotype indicates you carry one copy of the pathogenic variant associated with autosomal recessive Stargardt disease and cone-rod dystrophy. Because this condition is autosomal recessive, carrying a single copy typically does not cause the disease, but you should discuss your results with a genetic counselor to understand implications for family planning.
Carried by approximately 1 in 500 individuals of non-Finnish European ancestry, though frequencies vary significantly by global population.
Increased risk of retinal dystrophy
This genotype indicates you carry two copies of the pathogenic variant, which is linked to autosomal recessive Stargardt disease and cone-rod dystrophy. This condition involves progressive vision loss due to the accumulation of toxic compounds in the retina; please consult with an ophthalmologist or retinal specialist for clinical evaluation and monitoring.
This genotype is extremely rare in the general population.
gnomAD MAF ~0.001 in non-Finnish Europeans
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This variant is associated with Stargardt disease and other retinal dystrophies.
This SNP is involved in the retinal phototransduction cycle and linked to Stargardt disease and age-related macular degeneration predisposition.
Well-characterized pathogenic missense variant in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Genomic variant within the ATP-binding cassette retinal transporter ABCA4 locus implicated in retinal degenerations and macular disease.
Known as the Gly1961Glu (G1961E) variant in ABCA4, a prevalent hypomorphic mutation contributing to late-onset Stargardt disease and cone-rod dystrophy.
This variant is associated with carrier status for Stargardt disease, an inherited retinal disorder.