Understanding rs1024331665: A Rare Genetic Variant
The variant rs1024331665 is a rare, multiallelic genetic change located within the 3' UTR of the EGLN3 gene. It is currently documented in large-scale population databases like gnomAD, where it serves as a point of interest for fine-scale population genetic studies.
What each genotype means
Common genetic baseline
This genotype represents the most frequently observed sequence at this location in the general population. Because this variant is located in the 3' UTR of the EGLN3 gene, it is considered a non-coding sequence variation. There is currently no established clinical significance or disease association linked to this specific genetic state.
This is the most common genotype found across all global populations.
Rare variant carrier
You carry one copy of the rare T allele at this position. As this variant is located in the 3' UTR of the EGLN3 gene, its functional impact remains unknown and is currently considered a variant of uncertain significance. No specific health implications have been linked to this genotype in scientific literature.
This genotype is extremely rare, observed in approximately 1 in 346,000 individuals in the gnomAD database.
Rare variant carrier
You carry one copy of the rare A allele at this position. This variant is located in the 3' UTR of the EGLN3 gene, and there is currently no evidence to suggest it affects gene function or health outcomes. It is classified as a rare, multiallelic variant with limited research available regarding its biological role.
This genotype is extremely rare and is documented as a multiallelic alternative to the G/T genotype in population studies.
What is rs1024331665?
The identifier rs1024331665 refers to a specific single nucleotide variant (SNV) cataloged in the dbSNP database. In genomics, an rsID (reference SNP cluster ID) acts as a unique label for a specific location in the human genome where a variation has been observed. This particular variant is classified as multiallelic, meaning that at this specific genomic position, more than one type of change from the reference sequence has been identified. Specifically, researchers have observed both a G-to-T and a G-to-A substitution at this site. Because it is a rare variant, it is primarily used by researchers to understand human genetic diversity rather than as a marker for a specific health condition. It is located on chromosome 14, and its presence is tracked through high-throughput sequencing projects that aggregate data from hundreds of thousands of individuals worldwide.
Genomic Context and the EGLN3 Gene
While rs1024331665 is often described as intergenic, detailed annotation shows it falls within the 3' untranslated region (3' UTR) of the EGLN3 gene. The 3' UTR is a segment of messenger RNA that follows the coding region of a gene; it does not provide instructions for building a protein, but it plays a critical role in regulating how much protein is produced and how stable the mRNA molecule remains within the cell. The EGLN3 gene itself is involved in the cellular response to oxygen levels, helping the body adapt to varying environmental conditions. Because this variant is located in a regulatory region, scientists study such sites to determine if they might influence gene expression. However, as of now, there is no established evidence linking this specific variant to any functional change in EGLN3 activity or any clinical phenotype.
Research Status and Evidence Strength
The evidence supporting any functional or clinical significance for rs1024331665 is currently limited. In the field of genomics, 'limited evidence' means that while the variant has been reliably detected by sequencing technology, there are no peer-reviewed studies demonstrating that it causes a disease or influences a specific trait. Most of the information available for this variant comes from large-scale population aggregation projects like gnomAD (the Genome Aggregation Database). These databases are essential for researchers to distinguish between common variations and rare ones. Because this variant is extremely rare, it has not been the subject of large-scale genome-wide association studies (GWAS) that typically link variants to health outcomes. Consequently, it is best viewed as a neutral piece of data in the vast landscape of human genetic variation, awaiting further investigation by the scientific community.
Population Frequency
The variant rs1024331665 is exceptionally rare in the general population. According to data from gnomAD v4.1.1, the overall allele frequency is approximately 0.000002888. This frequency is calculated based on a very small number of observed instances across hundreds of thousands of sequenced individuals. Because the variant is so infrequent, it is not considered a common feature of any specific ancestral group. It is important to note that for such rare variants, frequency estimates can be sensitive to the specific composition of the database and the coverage depth of the sequencing data. Users should be aware that the absence of this variant in a personal genetic report is the expected outcome for the vast majority of the global population.
What This Information Means for You
If you have encountered this variant in a genetic report, it is important to understand that it is not a diagnostic tool. Because there is no established clinical association with rs1024331665, it does not provide information about your health, disease risk, or ancestry. Genetic science is a rapidly evolving field, and many variants identified in large databases are simply 'variants of unknown significance' that represent the natural, harmless diversity of the human genome. You cannot use this information to make medical decisions or lifestyle changes. If you have concerns about your genetic health or family history, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret genetic information in the context of your overall health and provide guidance based on validated clinical evidence rather than raw genomic data.
How common is this variant?
The variant is extremely rare, with an overall allele frequency of approximately 0.000002888 in the gnomAD v4.1.1 dataset.
Frequently asked questions
Is rs1024331665 associated with any disease?
No, there is currently no scientific evidence linking rs1024331665 to any disease or health condition. It is considered a variant of unknown significance.
Should I be worried if I have this variant?
No. This variant is a rare, naturally occurring change in the human genome and is not known to have any impact on health or physical traits.
Where can I find more information about this SNP?
You can look up the variant in public databases such as the NCBI dbSNP or the gnomAD browser. These resources provide technical data on the variant's location and frequency.
Does this variant affect my medication response?
There is no evidence that this variant affects how you respond to any medication. Always consult your doctor or pharmacist regarding any questions about your medications.
Sources & further reading
Educational information only, last refreshed 9/15/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is an uncharacterized single nucleotide variation with no established clinical significance.
This variant is an uncharacterized single nucleotide variation with no established clinical significance.
This variant is an uncharacterized single nucleotide variation with no established clinical significance.
This variant is an uncharacterized single nucleotide variation with no established clinical significance.
This variant is an uncharacterized single nucleotide variation with no established clinical significance.
This variant is an uncharacterized single nucleotide variation with no established clinical significance.