rs116858574: Understanding This Rare Genetic Variant and Height
The genetic variant rs116858574 is a rare single nucleotide polymorphism (SNP) that has been identified in research studies as being associated with variations in human adult height. It is considered a coding variant, meaning it may influence the structure or function of a protein involved in growth-related biological processes.
What each genotype means
Common height-associated genotype
This is the most common genotype observed for this variant in most populations. Research indicates this variant is associated with variations in adult height, though the specific impact of this genotype is considered limited and part of a complex, polygenic trait architecture.
This is the major allele genotype and is found in the vast majority of individuals across most global populations.
Rare height-associated variant
Carrying one copy of the T allele is a rare occurrence associated with studies on human adult height. Because this is a rare coding variant, its individual contribution to height is statistically small and should be viewed as one of many factors influencing this complex trait.
This genotype is rare, occurring at a low frequency in the general population.
Rare height-associated variant
Carrying two copies of the T allele is extremely rare. While this variant has been identified in research regarding the genetic architecture of human height, the evidence for its specific effect size remains limited.
This genotype is extremely rare and is observed in a very small fraction of the population.
What is rs116858574?
A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs116858574 is located on chromosome 15. In the human genome, this specific position is associated with the EMC4 gene, which encodes a protein involved in the endoplasmic reticulum membrane protein complex. While many SNPs are found in non-coding regions of the genome, rs116858574 is categorized as a coding variant. This suggests that the change in the DNA sequence could potentially alter the amino acid sequence of the protein produced by the gene, which may have downstream effects on cellular functions. Because it is a rare variant, it is not found in the majority of the population, making it a subject of interest for researchers studying the genetic architecture of complex human traits.
The Science of Height and Genetics
Human height is a classic example of a complex, polygenic trait, meaning it is influenced by the cumulative effects of thousands of genetic variants rather than a single gene. Genome-wide association studies (GWAS) have been instrumental in identifying these variants by comparing the DNA of individuals with different heights. While common variants with high frequency in the population account for a significant portion of height heritability, recent research has increasingly focused on rare and low-frequency coding variants. These rarer variants, such as rs116858574, are often harder to detect because they appear in very few individuals. However, studies have shown that these variants can have a disproportionately large impact on height compared to common variants, providing deeper insights into the biological pathways—such as those involving the extracellular matrix—that regulate human growth and development.
Evidence and Research Context
The association between rs116858574 and adult height is supported by research into rare and low-frequency coding variants. Specifically, large-scale meta-analyses have identified this variant as part of a broader effort to map the genetic landscape of height. It is important to note that the evidence strength for this specific variant is currently considered limited. In the context of genetic research, 'limited' does not mean the association is incorrect, but rather that more data across diverse populations is required to fully understand the effect size and the biological mechanism by which it influences height. Because height is influenced by a vast network of genes and environmental factors, the contribution of any single rare variant like rs116858574 is just one piece of a much larger, complex puzzle.
Interpreting Your Genetic Information
If you have encountered rs116858574 in a personal genetic report, it is helpful to view this information through the lens of scientific research rather than clinical diagnosis. This variant is a tool for researchers to understand human biology, not a diagnostic marker for health conditions. Because the association with height is based on statistical correlations in large groups of people, it cannot be used to predict an individual's height with certainty. Furthermore, genetic information is only one factor in human development; nutrition, environment, and overall health play significant roles. If you have questions about your growth, development, or any health concerns, the most appropriate step is to consult with a qualified healthcare professional or a genetic counselor. They can provide context based on your personal and family medical history, which is far more informative than any single genetic variant.
How common is this variant?
The variant rs116858574 is classified as rare, meaning it appears at a very low frequency across global populations.
Frequently asked questions
Can I use rs116858574 to predict how tall I will be?
No, this variant cannot be used to predict your height. Height is a complex trait influenced by thousands of genetic variants and environmental factors, and the effect of this single rare variant is not sufficient for individual prediction.
Is rs116858574 a disease-causing mutation?
No, rs116858574 is not classified as a disease-causing mutation. It is a genetic variant associated with natural variation in human height, which is a normal human trait.
Why is the evidence for this variant called 'limited'?
Evidence is labeled as limited when the statistical association has been observed in research studies but requires further replication and validation across larger, more diverse groups of people to be fully understood.
Should I be concerned if I have the T allele?
There is no reason for concern. Genetic variants like rs116858574 are part of the natural genetic diversity found in humans and are not indicators of health problems or medical conditions.
Sources & further reading
Educational information only, last refreshed 9/21/2026. 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.