EDAR rs1064793107: What Your Genotype Means
The rs1064793107 variant is a genetic change located within the EDAR gene, which encodes the ectodysplasin A receptor. This gene is essential for the development of ectodermal structures, and variants in this region are studied for their potential links to reproductive health and physical traits.
What each genotype means
Typical hair morphology
This genotype represents the common ancestral state for this position in the EDAR gene. Research into this specific variant is limited, and it is not currently linked to the well-studied hair thickness traits associated with other EDAR variants. As with all genetic information, this does not provide a medical diagnosis or health prediction.
The frequency of this genotype varies significantly by ancestry, though specific global population data for this exact rsID is not currently established in major databases.
Typical hair morphology
Carrying one copy of the G allele at this position does not have a clearly defined clinical or physical impact in current scientific literature. This variant is distinct from the well-characterized EDAR variants known to influence hair thickness and sweat gland development. Please consult with a healthcare professional if you have specific concerns about your physical traits.
This genotype is considered rare, with limited documentation of its prevalence across global populations.
Typical hair morphology
There is currently no robust evidence linking this specific genotype to significant changes in hair, teeth, or sweat gland development. While the EDAR gene is critical for ectodermal development, this particular variant is not among those widely recognized as having a functional impact on human phenotypes. This information is for educational purposes and should not be used for medical decision-making.
This genotype is rarely reported in genomic studies, and its frequency across different ancestral groups remains largely uncharacterized.
Understanding the rs1064793107 Variant
The rs1064793107 variant is a specific single nucleotide polymorphism (SNP) located on chromosome 2 within the EDAR gene. In genomics, a SNP represents a variation at a single position in the DNA sequence among individuals. This particular variant is cataloged in major public databases, including dbSNP and ClinVar, which serve as repositories for genetic variation data. While many SNPs are neutral and have no observable effect on health, researchers track them to understand how they might influence biological processes or contribute to specific physical characteristics. The location of this variant within the EDAR gene is significant because the gene is highly active during embryonic development, influencing the formation of various tissues. Scientists use these identifiers to map genetic data across diverse populations, helping to build a clearer picture of human genetic diversity and the functional impact of specific DNA changes.
The Role of the EDAR Gene
The EDAR gene provides the instructions for creating the ectodysplasin A receptor protein. This protein is a critical component of a signaling pathway that facilitates communication between embryonic cell layers, specifically the ectoderm and the mesoderm. This signaling process is fundamental to the development of ectodermal structures, which include hair follicles, sweat glands, and teeth. Because this pathway is so vital for early development, mutations in the EDAR gene can lead to conditions known as hypohidrotic ectodermal dysplasia, which affects the normal growth of these structures. Beyond clinical disorders, common variations in EDAR have been extensively studied for their influence on normal human traits, such as the thickness and straightness of scalp hair. Research indicates that the EDAR pathway is a key regulator in human morphology, making it a frequent subject of study in evolutionary biology and developmental genetics.
Research Associations and Evidence
Current research into the EDAR gene focuses on both its role in rare developmental disorders and its influence on common physical traits. While some variants in EDAR are clearly linked to ectodermal dysplasia, the evidence for many other SNPs, including rs1064793107, remains a subject of ongoing investigation. Scientific literature often highlights that the EDAR gene has been subject to strong natural selection pressure, particularly in East Asian populations, which has shaped the distribution of certain variants over time. However, it is important to distinguish between well-established pathogenic mutations and variants like rs1064793107, for which the clinical significance is not yet fully characterized. The evidence strength for this specific variant is currently considered moderate, meaning that while it is documented in genetic catalogs, its direct impact on health or specific phenotypes requires further peer-reviewed study to be fully understood.
Population Frequency and Interpretation
Information regarding the population frequency of rs1064793107 is currently limited, and specific percentages across different ancestral groups are not widely established in public databases. Genetic variants often show significant differences in frequency depending on the geographic and ancestral background of a population, a phenomenon driven by historical migration and natural selection. Because this variant is not as frequently cited in large-scale population studies as other canonical EDAR SNPs, its prevalence remains an area of uncertainty. For individuals who encounter this variant in a personal genetic report, it is essential to understand that the presence of a variant does not equate to a medical diagnosis. Genetic data is complex, and most traits are influenced by a combination of many genes and environmental factors. If you have concerns about your genetic results, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor who can provide context based on your personal and family history.
How common is this variant?
Specific population frequency data for rs1064793107 is not currently specified in major public genomic databases.
Frequently asked questions
What is the EDAR gene?
The EDAR gene encodes the ectodysplasin A receptor, which is crucial for the development of hair, teeth, and sweat glands. It plays a major role in the signaling pathways that form these structures during embryonic development.
Is rs1064793107 associated with a disease?
While some variants in the EDAR gene are linked to ectodermal dysplasia, rs1064793107 is not currently classified as a known cause of these conditions. Its clinical significance remains under investigation.
Should I be worried if I have this variant?
No, the presence of a single variant like rs1064793107 is generally not a cause for concern. Most genetic variations are normal parts of human diversity and do not result in health issues.
How can I learn more about my genetic results?
If you have questions about your genetic data, you should discuss them with a healthcare professional or a certified genetic counselor. They can help interpret your results in the context of your overall health.
Sources & further reading
Educational information only, last refreshed 10/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Functional variant in the ectodysplasin A receptor pathway influencing hair shaft thickness and incisor shoveling.
Non-coding regulatory variant in EDAR associated with variations in hair fiber thickness, crown morphology, and dental traits.
Intronic regulatory variant tightly linked to hair follicle density, incisor shoveling morphology, and sweat gland branching in continental Asian populations.
Functional 370A missense variant (Val370Ala) driving shovel-shaped incisors, thicker hair shaft diameter, and increased eccrine sweat gland density.
Associated with variations in incisor winging and subtle dental crown morphology independent of the canonical hair thickness variant.
Common regulatory variant in the EDAR region associated with variation in human hair thickness, beard density, and facial shape.