SERPINE3 rs3118905: Understanding Genetic Associations with Height
The rs3118905 variant is a single-nucleotide polymorphism located within the SERPINE3 gene. It has been identified in large-scale genome-wide association studies as having a statistical link to variations in human adult height.
What each genotype means
Typical height-associated profile
This is the most common genotype observed in the general population for this variant. Research indicates that the SERPINE3 gene is associated with variations in human body height, though this specific variant represents only a small piece of a complex, polygenic trait influenced by many genetic and environmental factors.
This is the major allele genotype and is found in the vast majority of individuals across all global populations.
Variant height-associated profile
You carry one copy of the less common T allele at this position in the SERPINE3 gene. Large-scale genome-wide association studies have linked this variant to differences in adult height, but because height is a complex trait, this genotype does not determine your height on its own.
This genotype is extremely rare, with the T allele observed at a frequency of approximately 0.000013 in global population databases.
Rare variant height-associated profile
You carry two copies of the rare T allele at this position. While this variant is statistically associated with height in large-scale studies, the overall impact of this specific genetic change on your physical stature is likely minimal compared to the combined influence of hundreds of other genetic variants and environmental factors.
This genotype is exceptionally rare and has not been observed in most major population cohorts studied to date.
What is rs3118905?
A single-nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs3118905 is a specific location within the human genome where different people may carry different nucleotide bases. This SNP is situated within the SERPINE3 gene, which stands for Serpin Family E Member 3. In the context of genomics, researchers track these variants to see if they correlate with specific physical traits or health conditions. Because human height is a complex, polygenic trait—meaning it is influenced by the cumulative effect of many different genetic markers across the entire genome—rs3118905 represents just one small piece of a much larger biological puzzle. It is important to note that the presence of a specific base at this location does not determine height on its own, but rather contributes to the statistical probability of height variation when analyzed alongside thousands of other genetic factors.
The Role of the SERPINE3 Gene
The SERPINE3 gene encodes a protein that belongs to the serpin superfamily, which are generally known as serine-type endopeptidase inhibitors. These proteins function primarily in the extracellular space, where they help regulate proteolytic activity—the process of breaking down proteins. By inhibiting specific enzymes, SERPINE3 is thought to play a role in maintaining the balance of protein processing in the extracellular environment. While its exact biological contribution to human growth and development is still being investigated, its classification as a protease inhibitor suggests it may influence tissue remodeling or extracellular matrix maintenance. Currently, clinical associations for SERPINE3 are limited, and its significance is largely defined by its predicted biochemical function. It is not currently linked to any specific monogenic disorders, and its involvement in height is viewed as a quantitative trait association rather than a direct cause of a medical condition.
Research and Evidence Strength
The association between rs3118905 and human height has been observed through genome-wide association studies (GWAS). These studies scan the genomes of thousands of individuals to find statistical correlations between specific SNPs and observable traits. The evidence for this particular variant is considered moderate, as it appears in datasets analyzing the genetic architecture of height. However, it is crucial to understand that statistical association does not equal causation. Many variants identified in GWAS are in linkage disequilibrium with other nearby variants, meaning they are inherited together, and it may be a neighboring sequence that is actually driving the biological effect. Furthermore, the effect size of any single variant like rs3118905 on total adult height is typically very small. Most of the heritability of height is spread across a vast number of variants, each contributing only a tiny fraction to the overall phenotypic variance observed in the population.
Interpreting Your Genetic Information
If you have received information about your genotype at rs3118905, it is important to view this data in the correct context. This variant is a tool for scientific research into population genetics and the complex architecture of human traits; it is not a diagnostic marker for any medical condition or a predictor of personal health outcomes. You cannot use this information to determine your height or to make medical decisions. Because height is influenced by a complex interplay of genetics, nutrition, environment, and developmental factors, a single SNP provides almost no predictive power for an individual. If you have concerns about your growth, development, or overall health, the most appropriate course of action is to consult with a qualified healthcare professional. They can provide personalized assessments based on clinical history and physical examinations, which are far more informative than any single genetic variant.
How common is this variant?
Specific population frequency data for rs3118905 is not widely documented in standard public databases, suggesting that its distribution may vary significantly across different ancestral groups.
Frequently asked questions
Can I use rs3118905 to predict how tall I will be?
No, you cannot use this variant to predict your height. Height is a complex trait influenced by hundreds of genetic variants and environmental factors, and this single SNP has a negligible effect on its own.
Is rs3118905 associated with any diseases?
There is no current evidence linking rs3118905 to any specific disease. It is primarily studied in the context of normal human variation in height.
What does the SERPINE3 gene do?
SERPINE3 encodes a protein that acts as a serine-type endopeptidase inhibitor. It functions in the extracellular space to help regulate protein processing and balance.
Why do GWAS studies look at SNPs like rs3118905?
Researchers study these SNPs to understand the genetic architecture of complex traits. By identifying these markers, scientists can better map the biological pathways that contribute to human development.
Sources & further reading
Educational information only, last refreshed 9/17/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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