NEK7 rs189724396: What Your Genotype Means
The genetic variant rs189724396 is a specific change located within the NEK7 gene. Research has identified a statistical association between this variant and variations in mean corpuscular hemoglobin levels.
What each genotype means
Typical hemoglobin association
This genotype represents the common homozygous state for this variant in the NEK7 gene. Research has identified an association between this genetic location and mean corpuscular hemoglobin levels, though the clinical significance of this specific genotype remains limited. This finding is based on population-level statistical associations and does not indicate a medical condition.
This is the most common genotype for this variant across most global populations.
Variant hemoglobin association
Carrying one copy of the G allele at this position in the NEK7 gene has been statistically associated with variations in mean corpuscular hemoglobin levels in large-scale studies. Because the evidence for this association is limited, this result should be viewed as a research-based observation rather than a diagnostic indicator. Please consult with a healthcare provider if you have concerns regarding your blood test results.
This genotype is rare, occurring in a small fraction of the population.
Rare variant hemoglobin association
This homozygous genotype for the G allele is associated with mean corpuscular hemoglobin levels in published genome-wide association studies. The functional impact of this variant on NEK7 protein activity is not fully understood, and the association is considered to have limited evidence. This information is for educational purposes and does not constitute a medical diagnosis.
This genotype is very rare and is observed infrequently in global population databases.
Understanding the Variant
The variant rs189724396 is a single nucleotide polymorphism (SNP) located on chromosome 1 at position 1q31.3, within the NEK7 gene. In genetics, a SNP represents a variation at a single position in a DNA sequence among individuals. While the human genome is remarkably similar across all people, these small variations can contribute to differences in biological traits. The rs189724396 variant is cataloged in public databases as a rare genetic marker. Because it is rare, it is not found in the majority of the population, and its specific functional impact on the body remains a subject of ongoing scientific investigation. Geneticists study such variants to understand how they might influence physiological processes, though the presence of a variant does not automatically imply a health condition or a functional change in the protein produced by the gene.
The Role of the NEK7 Gene
The NEK7 gene encodes a protein known as NIMA-related kinase 7. This protein belongs to a family of serine/threonine kinases that are essential for regulating the cell cycle. Specifically, NEK7 is critical for the formation of the mitotic spindle, a structure that ensures chromosomes are correctly separated during cell division. Beyond its role in mitosis, NEK7 has been identified as a key component of the NLRP3 inflammasome, a complex involved in the body's inflammatory response. By bridging components of the inflammasome, NEK7 helps facilitate the maturation of important signaling molecules like IL-1β and IL-18. Because of these fundamental roles in both cell division and immune regulation, the NEK7 gene is highly conserved across many species, meaning its sequence is very similar in organisms ranging from humans to zebrafish.
Research and Evidence
The association between rs189724396 and mean corpuscular hemoglobin (MCH) was identified through genome-wide association studies (GWAS). MCH is a measurement of the average amount of hemoglobin found in a single red blood cell. While the GWAS Catalog lists this variant as having a significant statistical association with MCH levels, the evidence strength is currently considered limited. This means that while the statistical correlation is observable in large datasets, the biological mechanism explaining how this specific variant influences hemoglobin levels is not yet fully understood. It is important to note that GWAS findings identify correlations across populations rather than establishing direct causation for an individual. Because the evidence is limited, researchers continue to investigate whether this variant acts directly or if it is simply a marker located near other functional elements that influence blood cell characteristics.
Population Frequency
The rs189724396 variant is classified as rare. In population genetics, a variant is typically considered rare if its frequency is very low across the general population. Because this variant is not common, most individuals do not carry it. Frequency can vary significantly depending on ancestral background, and large-scale genomic databases like gnomAD are often used to estimate these frequencies. However, for rare variants, data may be sparse, making it difficult to determine precise prevalence across all global populations. The rarity of this SNP is a primary reason why the evidence regarding its functional impact remains limited; there are simply fewer individuals available for researchers to study to confirm the consistency of the association with MCH levels.
Interpreting Your Genetic Information
If you have received information about your status for the rs189724396 variant, it is important to view this in the context of your overall health. Genetic associations identified in research studies are statistical in nature and are intended for educational purposes. They do not constitute a medical diagnosis or a prediction of health outcomes. Many factors, including environment, lifestyle, and other genetic markers, contribute to traits like mean corpuscular hemoglobin levels. You cannot use this information to diagnose yourself or to make changes to your medical care. If you have concerns about your blood work or hemoglobin levels, you should consult with a healthcare professional. They can interpret your clinical laboratory results in the context of your full medical history and provide appropriate guidance. Never make changes to medications or health routines based on genetic reports without first speaking to your clinician or pharmacist.
How common is this variant?
The rs189724396 variant is documented as rare across global populations, meaning the vast majority of individuals carry the common allele.
Frequently asked questions
What is mean corpuscular hemoglobin?
Mean corpuscular hemoglobin (MCH) is a measurement of the average amount of hemoglobin in a single red blood cell. It is a standard value reported in a complete blood count (CBC) test.
Does having this variant mean I have a blood disorder?
No. A statistical association with a trait like MCH does not mean you have a medical condition or disorder. Genetic variants are only one of many factors that influence blood cell characteristics.
Can I use this information to change my diet or supplements?
No. You should not use genetic information to make decisions about your diet or supplements. Always consult with a healthcare provider before making changes to your health regimen.
Where can I find more information about NEK7?
You can find reliable information about the NEK7 gene through resources like the NCBI Gene database, GeneCards, or the GWAS Catalog. These sites provide scientific summaries of gene function and research associations.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs189724396?
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