AR Gene Variant rs137852591: What Your Genotype Means
The rs137852591 variant is a rare genetic change located within the androgen receptor (AR) gene. It has been studied for its potential associations with androgen insensitivity and variations in human adult height.
What each genotype means
Common reference genotype
This is the most frequently observed genotype for this variant in clinical databases. It is considered the reference sequence and is not associated with the specific clinical traits linked to the G allele.
This is the most common genotype found in general population databases.
Associated with height variation
Carriers of this genotype have been reported in some studies to be approximately 2cm shorter than non-carriers. This association is based on statistical observations in specific populations and should be interpreted as a minor trait-related finding.
This genotype is rare in the general population.
Potential androgen insensitivity
This genotype has been linked in research to androgen insensitivity, which may present as a partial form. Because this is a rare variant, you should discuss any relevant clinical symptoms or family history with a healthcare professional or genetic counselor.
This genotype is rare and is not commonly found in the general population.
Understanding the AR Gene
The AR gene provides the essential instructions for building the androgen receptor protein. This protein acts as a sensor for androgens, which are hormones like testosterone that play a critical role in male sexual development and various physiological processes in both males and females. By binding to these hormones, the androgen receptor helps regulate the activity of specific genes throughout the body. Because the AR gene is located on the X chromosome, its function is particularly significant in the context of sex-linked biological development. When the gene functions normally, it ensures that the body responds appropriately to hormonal signals. However, variations within this gene can alter the structure or efficiency of the receptor, potentially impacting how the body processes these vital hormonal messages.
What is the rs137852591 Variant?
The rs137852591 variant is a specific single nucleotide polymorphism (SNP) found within the sequence of the AR gene. In genetics, a SNP represents a variation at a single position in the DNA building blocks. Researchers track these variants to understand how they might influence human traits or health conditions. While many variants in the human genome are common and have little impact, others are rare and may have more pronounced effects. The rs137852591 variant is categorized as rare, meaning it is not frequently observed in the general population. Its location on the X chromosome means that its impact can differ significantly between individuals based on their sex chromosomes, as males typically have one X chromosome while females have two.
Research and Associations
Scientific literature has explored the potential links between rs137852591 and specific human traits. Some research has suggested an association between this variant and androgen insensitivity, a condition where the body's cells do not respond fully to androgen hormones. Additionally, there have been reports linking this variant to variations in adult human height, with some studies suggesting that carriers of certain alleles might show slight differences in stature compared to non-carriers. It is important to note that the evidence strength for these associations is currently considered limited. Human height is a complex, polygenic trait influenced by thousands of genetic variants and environmental factors, making it difficult to isolate the effect of a single rare SNP. Further large-scale studies are required to confirm these findings and determine the biological significance of this specific variant.
Interpreting Your Genetic Information
If you have received information about your status for rs137852591, it is essential to approach these results with perspective. Because the evidence linking this variant to specific health outcomes or traits is limited, these findings should not be used to make medical decisions or self-diagnose. Genetic variants often interact with many other genes and environmental factors, meaning a single SNP rarely determines a complex outcome on its own. If you have concerns about your health, hormonal function, or physical development, the most appropriate step is to consult with a qualified healthcare professional or a genetic counselor. They can provide context based on your full medical history and help you understand what, if any, clinical relevance your genetic results may have for your personal health journey.
How common is this variant?
The rs137852591 variant is classified as rare, meaning it occurs at a very low frequency across most human populations.
Frequently asked questions
What does it mean if I have the G allele for rs137852591?
The G allele is a rare variant in the AR gene. While some research has linked it to potential differences in height or androgen sensitivity, the evidence is limited and not definitive for any individual.
Can this variant cause androgen insensitivity?
Some studies have explored a link between this variant and partial androgen insensitivity. However, this is a complex condition, and having a specific variant does not guarantee a clinical diagnosis.
Should I be worried about my height if I carry this variant?
No. Human height is influenced by thousands of genetic and environmental factors. A single rare variant like rs137852591 is unlikely to have a significant impact on your overall stature.
Where can I find more information about my specific genetic results?
You should discuss your genetic reports with a healthcare provider or a certified genetic counselor. They are trained to interpret these results within the context of your overall health.
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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Pathogenic missense variant in the androgen receptor gene causing partial or complete androgen insensitivity syndrome.
Causative mutation in AR leading to impaired ligand binding and androgen insensitivity syndrome in XY individuals.
Pathogenic single-nucleotide variant in the DNA-binding domain of AR resulting in defective male sexual differentiation.
Point mutation in AR causing mild androgen insensitivity syndrome, presenting with impaired spermatogenesis and male infertility.
Pathogenic substitution in the hormone-binding domain of the androgen receptor leading to complete androgen insensitivity syndrome.
A variant associated with prostate-specific antigen (PSA) levels identified through a large-scale multiancestry genome-wide association study.