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NEK7 rs1938376: Understanding Genetic Associations with Height

rs1938376
Trait
Limited evidenceGene: NEK7

The rs1938376 variant is a single nucleotide polymorphism located within the NEK7 gene. Scientific research has identified this specific variant as being statistically associated with variations in human body height.

What each genotype means

A/ALower attention

Typical height association

This genotype is one of the common variations observed in the NEK7 gene. Research indicates that this variant is associated with human body height, though the individual impact of this specific genotype on height is considered limited and part of a complex, polygenic trait influenced by many other genetic and environmental factors.

This is a common genotype found in many human populations, though exact frequencies vary by ancestry.

A/GLower attention

Typical height association

This genotype is one of the common variations observed in the NEK7 gene. Research indicates that this variant is associated with human body height, though the individual impact of this specific genotype on height is considered limited and part of a complex, polygenic trait influenced by many other genetic and environmental factors.

This is a common genotype found in many human populations, though exact frequencies vary by ancestry.

G/GLower attention

Typical height association

This genotype is one of the common variations observed in the NEK7 gene. Research indicates that this variant is associated with human body height, though the individual impact of this specific genotype on height is considered limited and part of a complex, polygenic trait influenced by many other genetic and environmental factors.

This is a common genotype found in many human populations, though exact frequencies vary by ancestry.

What is rs1938376?

A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs1938376 is a specific location within the human genome where researchers have observed differences between people. This SNP is situated on chromosome 1 within the NEK7 gene region. In the context of genomics, SNPs are often used as markers to help scientists understand the genetic architecture of complex traits. Because human height is a polygenic trait—meaning it is influenced by the cumulative effect of many different genetic variants across the entire genome—rs1938376 represents just one small piece of a much larger puzzle. Researchers identify these variants by comparing the DNA of large groups of people to see if certain genetic patterns correlate with physical characteristics like height.

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 kinases, which are enzymes that play critical roles in cell signaling by adding phosphate groups to other proteins. NEK7 is particularly well-known for its involvement in the regulation of the cell cycle and the formation of the mitotic spindle, which is essential for proper cell division. Beyond its role in mitosis, NEK7 has also been implicated in inflammatory pathways, specifically as a key component of the NLRP3 inflammasome. While its primary biological functions are well-documented in cellular biology, the specific mechanisms by which variations in this gene might influence physical stature are still a subject of ongoing investigation. Scientists continue to study how these cellular processes might scale up to influence developmental growth patterns in humans.

Evidence and Associations

The association between rs1938376 and human height has been documented in large-scale genome-wide association studies (GWAS). These studies scan the genomes of thousands of individuals to find statistical links between specific variants and traits. According to the GWAS Catalog, rs1938376 has reached genome-wide significance in studies investigating body height. However, it is important to interpret this evidence with caution. While the statistical association is robust in the context of these studies, the actual effect size of any single common variant on total height is typically very small. Most height-related variants identified to date explain only a tiny fraction of the total variation in height observed across human populations. Therefore, while rs1938376 is a recognized marker, it should not be viewed as a primary determinant of an individual's height.

Population Frequency

The rs1938376 variant is classified as a common variant. In genomics, this means that the minor allele—the less frequent version of the DNA letter at this position—is found at a significant frequency across various human populations. Because it is common, it is present in a large proportion of the general population, rather than being restricted to specific ancestral groups or rare genetic conditions. Large-scale databases like gnomAD provide data on how frequently different alleles appear across global populations, confirming that this variant is widely distributed. The prevalence of such common variants is a hallmark of polygenic traits, where thousands of widespread, low-impact genetic differences collectively shape a physical characteristic. Understanding the frequency of these variants helps researchers refine their models of human genetic diversity and the evolutionary history of complex traits.

Interpreting Genetic Information

It is essential to understand that genetic information regarding height is for educational purposes only. Because height is a complex trait influenced by hundreds of genes, as well as environmental factors like nutrition, health, and lifestyle during development, a single SNP like rs1938376 cannot be used to predict an individual's height. You cannot use this information to make medical decisions or health assessments. If you have questions about your growth, development, or overall health, the most appropriate course of action is to consult with a qualified healthcare professional. They can provide context based on your personal medical history and clinical examinations. Genetic testing for common traits is a tool for scientific research and population-level understanding, not a diagnostic tool for individual health management.

How common is this variant?

The rs1938376 variant is considered a common genetic marker, with its alleles appearing frequently across diverse human ancestral populations.

Frequently asked questions

Can I use this SNP to predict how tall my child will be?

No. Height is a complex trait influenced by hundreds of genetic variants and environmental factors. A single SNP like rs1938376 has a negligible impact on individual height and cannot be used for prediction.

Is rs1938376 a disease-causing mutation?

No. This variant is a common polymorphism associated with normal variation in human height. It is not classified as a disease-causing mutation.

Where can I find more information about my own genetic data?

If you have undergone genetic testing, you should consult the report provided by your testing service or discuss your results with a genetic counselor. They can help you interpret your data in the context of your personal health.

Why do studies show different results for height variants?

Different studies may use different populations, sample sizes, or statistical methods. Because height is polygenic, results can vary based on the specific genetic background of the study participants.

Sources & further reading

Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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Related variants in NEK7