MTHFR rs17364694: Understanding Your Genetic Variant
The rs17364694 variant is a single nucleotide polymorphism located within the MTHFR gene, which plays a critical role in folate metabolism. Research has examined this variant in various association studies to determine its potential influence on metabolic processes and health-related traits.
What each genotype means
Typical baseline enzyme activity
You carry two copies of the common C allele for this MTHFR locus variant. In genetic studies, this genotype represents the standard baseline profile and is not linked to altered folate processing or higher homocysteine levels. Because evidence exploring this specific single nucleotide polymorphism is limited, standard dietary folate intake is considered typical for your genetic profile.
Carried by approximately 65% to 80% of individuals across most global populations.
Carrier of one minor allele
You carry one copy of the minor T allele alongside one standard C allele. Research examining rs17364694 within folate and homocysteine pathways shows limited evidence of measurable clinical consequence on its own. Any potential functional impact is generally considered negligible compared to established primary MTHFR variants, and general nutrition guidelines remain standard.
Carried by roughly 18% to 30% of individuals globally.
Homozygous for minor allele
You carry two copies of the minor T allele for this MTHFR variant. While some candidate association studies have evaluated this marker for subtle shifts in homocysteine or folate levels, findings remain limited and inconsistent across broader populations. These statistical findings do not indicate a medical diagnosis, and routine dietary folate intake is typically adequate.
Observed in roughly 1% to 4% of individuals in global populations.
What is rs17364694?
The rs17364694 variant is a specific genetic change, or single nucleotide polymorphism (SNP), found within the MTHFR gene. In genetics, a SNP represents a variation at a single position in the DNA sequence. This particular variant is cataloged in public databases as part of the ongoing effort to map human genetic diversity. Because it sits within the MTHFR locus, researchers often investigate it to see if it correlates with differences in how individuals process nutrients or respond to environmental factors. It is important to note that the presence of a variant does not inherently imply a health condition; rather, it is a point of interest for scientists studying the complex relationship between our genetic code and biological function.
The Role of the MTHFR Gene
The MTHFR gene provides the instructions for the body to create the methylenetetrahydrofolate reductase enzyme. This enzyme is essential for the folate cycle, a biological process that converts folate (vitamin B9) into a form the body can use for critical tasks, such as DNA synthesis and protein modification. When the MTHFR enzyme functions optimally, it helps maintain healthy levels of homocysteine, an amino acid in the blood. Because folate is vital for cell division and growth, the MTHFR gene is a frequent subject of study in nutritional genomics. Variations in this gene are often explored to understand how they might influence the efficiency of these metabolic pathways, though the clinical significance of many such variants remains a subject of active scientific inquiry.
Research and Evidence Strength
The evidence linking rs17364694 to specific health outcomes is currently classified as limited. While many variants in the MTHFR gene have been studied in the context of folate metabolism, homocysteine levels, and various complex traits, the findings for this specific SNP are not definitive. Association studies often identify statistical correlations between a genetic variant and a trait, but these correlations do not always prove causation. Furthermore, results can vary significantly between different ethnic and ancestral populations. Because the evidence is limited, it is not currently used as a reliable diagnostic tool in clinical settings. Researchers continue to conduct large-scale meta-analyses to better understand whether this variant has a meaningful impact on human health or if it is simply a neutral marker of genetic variation.
Interpreting Your Information
If you have received information about your genotype for rs17364694, it is important to view it within the context of current scientific understanding. Genetic variants are common, and most do not have a significant impact on your daily health. You cannot use this information to diagnose yourself with a medical condition or to make independent decisions about your diet or supplementation. If you are concerned about your folate levels or metabolic health, the most effective approach is to consult with a healthcare professional or a registered dietitian. They can evaluate your overall health, including blood tests for folate and homocysteine, which provide a much clearer picture of your physiological status than a single genetic variant ever could. Always discuss any changes to your health regimen with your clinician.
How common is this variant?
The rs17364694 variant has a minor allele frequency (MAF) typically ranging between 0.10 and 0.20 across diverse global populations.
Frequently asked questions
Is rs17364694 the same as the MTHFR 677T mutation?
No, rs17364694 is a different variant than the well-known C677T (rs1801133) mutation. While both are located in the MTHFR gene, they are distinct genetic markers with different research histories.
Should I take extra folate if I have this variant?
You should not change your supplement routine based on a single genetic variant. Please consult with your doctor or a registered dietitian to determine if your folate levels are appropriate for your specific health needs.
Does this variant cause health problems?
The evidence for rs17364694 is limited, and it is not considered a direct cause of disease. Most genetic variants are normal variations that do not result in health issues.
Where can I find more information on MTHFR variants?
You can visit reputable sources like MedlinePlus Genetics or the NCBI database for general information on the MTHFR gene. Always rely on peer-reviewed scientific literature rather than anecdotal reports.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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MTHFR missense variant (c.1793G>A, p.Arg594Gln) commonly evaluated alongside canonical variants for folate metabolism and hyperhomocysteinemia predisposition.
Functional polymorphism influencing homocysteine dynamics and vascular endothelial recovery during high-intensity training.
Common variant (C677T) influencing folate metabolism and plasma homocysteine levels.
The C677T variant in the MTHFR gene is associated with reduced enzyme activity and mild hyperhomocysteinemia, particularly in individuals with low folate intake.
The MTHFR 677C>T (Ala222Val) variant encodes a thermolabile enzyme with reduced activity. While associated with elevated homocysteine levels in the presence of low folate, major professional guidelines (e.g., ACMG) advise against routine clinical testing for cardiovascular or thrombophilia risk due to lack of clinical utility.
Rare functional missense variant in MTHFR (p.Arg157Gln) associated with reduced folate pathway enzyme activity.