C9orf72 rs2814707: What Your Genotype Means
The rs2814707 variant is a single nucleotide polymorphism located within the C9orf72 gene. It is primarily studied as a tagging SNP for intermediate-length repeat alleles, which researchers investigate for their potential, though debated, associations with neurodegenerative conditions and healthy aging.
What each genotype means
Typical C9orf72 variant profile
This genotype is the most common form and is not associated with the specific risk haplotypes linked to intermediate-length repeat expansions in the C9orf72 gene. Research indicates that individuals with this genotype do not carry the tagging T-allele associated with increased susceptibility to certain neurodegenerative conditions in some populations. This result does not provide information about your personal risk for any disease.
This is the most common genotype observed across most global populations.
Intermediate-length repeat tagging variant
This genotype includes one copy of the T-allele, which acts as a tagging SNP for intermediate-length repeat alleles in the C9orf72 gene. While some studies have investigated whether these intermediate repeats or their associated haplotypes influence risk for neurodegenerative conditions like ALS or FTD, the evidence remains limited and sometimes conflicting across different populations. This genotype is not a diagnosis and does not indicate that you will develop any condition.
Carried by a significant portion of the population, with frequencies varying by ancestry, being notably common in Finnish populations.
Increased tagging variant frequency
This genotype is homozygous for the T-allele, which is a known tagging SNP for intermediate-length repeat alleles in the C9orf72 gene. Some research has suggested that individuals with this specific genotype may have a slightly higher statistical association with certain neurodegenerative conditions in specific cohorts, though these findings are not consistent across all studies and populations. This result is for informational purposes only and does not constitute a medical diagnosis or a prediction of future health.
Less common than the heterozygous state, but observed at higher frequencies in specific populations such as those of Finnish ancestry.
What is rs2814707 and where is it located?
The rs2814707 variant is a specific change in the DNA sequence located within the C9orf72 gene. In genetics, a 'tagging SNP' like rs2814707 is a marker that researchers use because it is frequently inherited alongside other nearby genetic features, such as the hexanucleotide repeat expansions found in this gene. By identifying the presence of the T allele at this position, scientists can more easily track the presence of intermediate-length repeat alleles—sequences of DNA that are longer than typical but shorter than those known to cause disease. Because this variant is common, it serves as a useful tool in large-scale genomic studies to help researchers understand the architecture of the C9orf72 locus across different populations.
The role of the C9orf72 gene
The C9orf72 gene provides instructions for producing a protein that is found in various tissues, with high levels of expression in the brain. While the exact function of the C9orf72 protein is still being actively researched, it is known to play a role in intracellular trafficking and the regulation of the immune system. The gene is most famous for a specific type of mutation: a massive expansion of a hexanucleotide (six-letter) repeat sequence. When this repeat sequence becomes excessively long, it is a well-established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Because rs2814707 is located in the same region, researchers study it to determine if the 'intermediate' lengths of these repeats—which are not long enough to be considered fully pathogenic—might still influence gene expression or contribute to subtle differences in neurological health or aging.
Research associations and evidence strength
The evidence linking rs2814707 and intermediate-length repeats to health outcomes is considered limited and often conflicting. Some studies have suggested that individuals carrying specific combinations of these intermediate alleles might have a higher risk for certain neurodegenerative conditions, or that the variant might correlate with longevity in specific populations. However, other large-scale studies have failed to replicate these findings, finding no significant association between intermediate repeat lengths and disease risk or survival. The scientific community continues to debate whether these intermediate alleles have any clinical impact at all, or if they are simply benign variations. Because the results vary significantly between different studies and ethnic groups, it is important to view these associations as preliminary rather than definitive indicators of health.
Population frequency
The rs2814707 variant is considered common across many human populations. However, the frequency of the specific alleles and the associated intermediate-length repeats can vary significantly depending on ancestry, with some studies noting higher prevalence in specific European populations, such as those of Finnish descent, compared to other groups.
What this information means for you
It is important to understand that having a particular genotype for rs2814707 does not provide a diagnosis or a clear prediction of your future health. Because the scientific evidence regarding intermediate-length repeats is inconsistent and often contradictory, this information cannot be used to determine your risk for neurodegenerative diseases. Genetic variants like this are primarily tools for population-level research rather than individual clinical assessment. If you have concerns about your family history of neurological conditions or your own health, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your health history in the context of established clinical guidelines, rather than relying on individual genetic markers that lack clear, actionable clinical significance.
How common is this variant?
The rs2814707 variant is common across many global populations, though the specific frequency of the T allele varies by ancestry, with notable prevalence in Finnish populations.
Frequently asked questions
Does rs2814707 cause ALS or dementia?
No, rs2814707 is a tagging SNP, not a cause of disease. While it is used to track intermediate-length repeats in the C9orf72 gene, these intermediate lengths are not the same as the large, pathogenic expansions that are known to cause ALS and FTD.
Can I use this SNP to predict my risk of neurodegenerative disease?
No, this variant is not a diagnostic tool. Current research on the impact of intermediate-length repeats is conflicting, and there is no consensus that this SNP provides meaningful information about an individual's risk for developing neurological conditions.
Why do some studies say it is a risk factor and others say it is not?
Genetic research often yields different results due to differences in study design, sample sizes, and the genetic backgrounds of the populations being studied. The conflicting findings regarding rs2814707 reflect the complexity of the C9orf72 gene and the ongoing scientific debate about the role of intermediate-length repeats.
Should I be worried if I have the T/T genotype?
No, you should not be worried. The T/T genotype is a common genetic variation and is not a clinical indicator of disease. If you have concerns about your health or family history, please speak with a doctor or a genetic counselor.
Sources & further reading
Educational information only, last refreshed 11/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant tags the C9orf72 hexanucleotide repeat expansion and shows a significant decrease in frequency with age, suggesting an association with survival.
This SNP acts as an intermediate allele tag for the C9orf72 repeat expansion, which is linked to both ALS risk and longevity outcomes.