ABCA4 rs61749414: Understanding Carrier Status for Stargardt Disease
The rs61749414 variant is a specific genetic change located within the ABCA4 gene. It is recognized in clinical databases as a marker associated with carrier status for Stargardt disease, an inherited condition that affects the retina.
What each genotype means
Typical genetic profile
This genotype represents the most common sequence found at this position in the ABCA4 gene. It is not associated with the carrier status for Stargardt disease linked to this specific variant.
This is the most common genotype observed in the general population.
Stargardt disease carrier
Individuals with this genotype carry one copy of the variant associated with Stargardt disease. Because Stargardt disease is typically inherited in an autosomal recessive pattern, carrying a single copy generally does not cause the condition, though you should consult with a genetic counselor to understand your specific risk profile.
This genotype is rare in the general population.
Potential disease-associated genotype
This genotype indicates the presence of two copies of the variant. You should discuss these results with a medical professional or genetic counselor, as this variant is associated with the ABCA4 gene, which is linked to inherited retinal disorders like Stargardt disease.
This genotype is extremely rare in the general population.
What is the rs61749414 Variant?
The rs61749414 variant is a single nucleotide polymorphism (SNP) located on chromosome 1 within the ABCA4 gene. In genetic terms, a SNP represents a variation at a single position in the DNA sequence. This specific variant is cataloged in public databases like dbSNP and ClinVar, which track genetic variations across the human genome. Because the ABCA4 gene is large and complex, researchers monitor many different variants within it to understand how they might influence health. The rs61749414 variant is specifically noted for its potential role in carrier status for certain retinal conditions. Understanding where this variant sits in the genome helps scientists and clinicians study its inheritance patterns and its potential impact on the function of the protein produced by the ABCA4 gene.
The Role of the ABCA4 Gene
The ABCA4 gene provides the instructions for creating a protein that is essential for the health of the retina, the light-sensitive tissue at the back of the eye. This protein acts as a transporter, helping to clear out toxic byproducts that naturally accumulate in retinal cells during the process of vision. When the ABCA4 gene does not function correctly, these byproducts can build up, potentially damaging the macula, which is the part of the retina responsible for sharp, central vision. Because the gene is so critical to retinal maintenance, mutations or variants that significantly disrupt its function are linked to a spectrum of inherited retinal disorders, including Stargardt disease. These conditions are typically inherited in an autosomal recessive pattern, meaning an individual usually needs to inherit two copies of a disease-causing variant to manifest the condition.
Research and Clinical Associations
Research into the ABCA4 gene is extensive because it is associated with the most common form of inherited juvenile macular dystrophy. The rs61749414 variant is identified in clinical literature as a variant associated with carrier status for Stargardt disease. Being a carrier means an individual has one copy of a variant that could contribute to a condition if paired with another specific variant on the other chromosome. The evidence strength for many ABCA4 variants is considered moderate to high, though the clinical interpretation can be complex due to the high number of variants in the gene and the variable ways the disease can present. Because of this complexity, researchers often emphasize that the presence of a single variant does not necessarily predict a specific clinical outcome, as the overall genetic context and the specific combination of variants in trans are crucial.
Population Frequency
The rs61749414 variant is generally considered rare in the global population. Genetic studies, such as those using data from gnomAD, help researchers estimate how often specific variants appear across different ancestral groups. While some ABCA4 variants have reached higher frequencies in certain populations due to founder effects, many individual variants remain quite uncommon. It is important to note that carrier frequency for pathogenic ABCA4 mutations as a whole is estimated to be approximately 1 in 20 people in many populations. However, this figure refers to the collective group of all pathogenic variants, not the frequency of this specific SNP alone. Because population frequencies can vary significantly based on ancestry, researchers continue to collect data to better understand the distribution of this variant worldwide.
What This Information Means for You
If you have received information about your status for the rs61749414 variant, it is important to understand that this is a scientific observation, not a medical diagnosis. Genetic testing results should always be interpreted by a qualified healthcare professional, such as a genetic counselor or an ophthalmologist specializing in retinal diseases. They can help place this information into the context of your personal and family health history. You cannot use this information to self-diagnose or predict future vision health on your own. If you are concerned about your risk for retinal conditions, discuss these results with your clinician. They can provide guidance on whether further clinical testing or specialized eye examinations are appropriate for your specific situation.
How common is this variant?
The rs61749414 variant is considered rare in the general population. While the collective carrier frequency for all pathogenic ABCA4 variants is approximately 1 in 20, the frequency of this specific SNP varies by ancestry.
Frequently asked questions
What is Stargardt disease?
Stargardt disease is an inherited retinal disorder that causes a progressive loss of central vision. It occurs when fatty material builds up on the macula, the part of the retina responsible for sharp, detailed vision.
Does having this variant mean I will develop Stargardt disease?
Not necessarily. Stargardt disease is typically inherited in an autosomal recessive pattern, meaning it usually requires two disease-causing variants to manifest. Being a carrier of one variant does not typically result in the disease.
Should I get my eyes checked if I am a carrier?
If you are concerned about your vision or your genetic status, it is always a good idea to consult with an eye care professional. They can provide a comprehensive eye exam and discuss your specific risk factors.
Is there a cure for Stargardt disease?
Currently, there is no cure for Stargardt disease, but research into gene therapies and other management strategies is ongoing. Clinical trials are exploring ways to address the underlying genetic causes of the condition.
Can I pass this variant to my children?
Yes, genetic variants are passed from parents to children. If you are a carrier, there is a chance you could pass the variant to your children, but they would generally need to inherit a second variant from the other parent to be at risk for the condition.
Sources & further reading
Educational information only, last refreshed 9/26/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs61749414?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in ABCA4
Pathogenic missense variant in ABCA4 (p.Leu541Pro) causing Stargardt disease and juvenile macular dystrophy.
This variant is a pathogenic marker associated with ABCA4-related disorders, including Stargardt disease, cone-rod dystrophy, and retinitis pigmentosa.
Pathogenic missense variant (p.Gly1961Glu) in ABCA4 causing Stargardt disease and macular degeneration phenotypes.
A well-characterized hypomorphic missense variant (p.Gly1961Glu) in ABCA4 responsible for late-onset Stargardt disease with predominantly foveal-sparing macular atrophy.
A pathogenic missense variant (p.Leu541Pro) in ABCA4 frequently linked in cis with p.Ala1038Val to create a severe complex allele causing childhood-onset Stargardt disease.
Hypomorphic ABCA4 missense variant (Gly1961Glu) associated with late-onset Stargardt disease and complex macular degeneration phenotypes.