PHEX rs1064793461: Understanding This Genetic Variant
The rs1064793461 variant is located within the PHEX gene, which plays a critical role in regulating phosphate levels and bone mineralization. This specific variant is cataloged in clinical databases, though its functional impact and clinical significance are subjects of ongoing research.
What each genotype means
Common genetic profile
This genotype represents the most frequently observed sequence at this specific location in the PHEX gene. Current scientific literature does not associate this specific configuration with the development of X-linked hypophosphatemia or other known clinical conditions.
This is the most common genotype found across global populations.
Rare variant carrier
Carrying this genotype means you have one copy of the common sequence and one copy of the variant allele. Because this variant is rare and its clinical significance is not fully established in current research, it is unclear if this specific change impacts PHEX protein function or phosphate metabolism.
This genotype is rare and observed at very low frequencies in global population databases.
Rare variant homozygous
This genotype indicates that both copies of the gene contain the variant sequence. While variants in the PHEX gene are known to cause X-linked hypophosphatemia, the specific clinical impact of this rare variant remains under investigation and is not definitively linked to disease in current public databases.
This genotype is extremely rare and is not commonly reported in large-scale population studies.
What is the rs1064793461 Variant?
The rs1064793461 variant is a specific change in the DNA sequence located within the PHEX gene. In genetics, an 'rsID' like rs1064793461 acts as a unique identifier assigned by the dbSNP database to help researchers track specific locations in the human genome. This variant sits on the X chromosome, which is significant because the PHEX gene is known for its role in X-linked conditions. While many variants in the human genome are common and have no observable effect on health, others are rare and may be studied for their potential to influence biological processes. Because this variant is cataloged in clinical databases, it is often included in genetic panels designed to investigate metabolic or skeletal health, though its presence alone does not necessarily indicate a specific health outcome.
The Role of the PHEX Gene
The PHEX gene provides the instructions for creating an enzyme that is essential for healthy bone and tooth development. This enzyme helps regulate the levels of phosphate in the blood by interacting with a protein called fibroblast growth factor 23 (FGF23). Under normal conditions, the PHEX enzyme helps ensure that the kidneys reabsorb enough phosphate and that bones mineralize properly. When the PHEX gene is altered by certain pathogenic variants, it can lead to an increase in FGF23 levels, which causes the body to lose too much phosphate through the urine. This process is the underlying cause of X-linked hypophosphatemia (XLH), a condition characterized by low blood phosphate levels, rickets, and skeletal abnormalities. Understanding the normal function of PHEX is key to why researchers prioritize studying variants within this gene.
Research and Evidence Strength
The evidence linking specific variants in the PHEX gene to health conditions is generally strong for known pathogenic mutations, but the significance of any single variant like rs1064793461 must be evaluated carefully. While the PHEX gene is well-documented in the context of hereditary hypophosphatemia, not every variant found in this gene is disease-causing. Many variants are classified as 'variants of uncertain significance' (VUS) until further functional studies or clinical data can confirm their impact. Current research into PHEX involves identifying how different genetic changes affect the enzyme's ability to regulate phosphate. Because the scientific literature contains hundreds of reported variants, researchers often use computational tools and clinical observation to determine if a specific variant disrupts normal biological function. As of now, the evidence for rs1064793461 is considered moderate, meaning it is a subject of interest in clinical databases but requires professional interpretation.
Population Frequency
The rs1064793461 variant is classified as rare across global populations. In genetic studies, 'rare' typically indicates that the variant is found in a very small percentage of the population, often making it difficult to establish broad statistical associations compared to common variants. Because it is rare, it is not typically found in the general population at high frequencies, and its presence is often identified through targeted clinical sequencing rather than population-wide screening. Genetic databases like gnomAD provide data on how often specific alleles appear across different ancestral groups, helping scientists understand if a variant is unique to certain populations or distributed more broadly. For rare variants, the lack of widespread data is common, and researchers rely on case reports and clinical registries to gather more information about their potential effects.
What You Can Do With This Information
If you have received information about the rs1064793461 variant, it is important to approach it with a clear understanding of its limitations. Genetic testing results can be complex, and the presence of a variant does not automatically mean you have or will develop a health condition. You cannot use this information to diagnose yourself or make medical decisions, such as starting or stopping medications. If you are concerned about your bone health, phosphate levels, or family history, the best course of action is to consult with a healthcare professional, such as a genetic counselor or an endocrinologist. They can help interpret your results in the context of your overall health, physical symptoms, and medical history. Always discuss any findings from genetic reports with a qualified clinician who can provide personalized guidance and, if necessary, recommend appropriate follow-up testing.
How common is this variant?
The rs1064793461 variant is considered rare in the general population, with limited frequency data available across diverse ancestral groups.
Frequently asked questions
What is the PHEX gene?
The PHEX gene provides instructions for an enzyme that regulates phosphate levels in the blood and supports healthy bone mineralization. It is primarily known for its association with X-linked hypophosphatemia when the gene is not functioning correctly.
Does having a PHEX variant mean I have XLH?
No, having a variant in the PHEX gene does not automatically mean you have X-linked hypophosphatemia (XLH). Many genetic variants are benign, and a clinical diagnosis of XLH requires a combination of genetic testing, biochemical blood tests, and physical evaluation by a doctor.
How can I find out if this variant affects my health?
You should discuss your genetic report with a healthcare provider or a genetic counselor. They can review your specific results alongside your medical history and symptoms to determine if any further clinical investigation is needed.
Is rs1064793461 a common genetic mutation?
No, rs1064793461 is considered a rare variant. It is not commonly found in the general population, which is why it is often studied in the context of specific clinical cases rather than general population health.
Sources & further reading
Educational information only, last refreshed 10/11/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1064793461?
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 — $29