OR52I1 rs4910511: Understanding This Genetic Variant
The rs4910511 variant is a single nucleotide polymorphism located within the OR52I1 gene. It has been identified in large-scale genome-wide association studies as having a statistical link to variations in monocyte counts.
What each genotype means
Typical monocyte count
This genotype is associated with baseline levels of monocytes, a type of white blood cell involved in immune response. Research indicates this variant is linked to monocyte count variations, though the functional impact on overall health remains unclear.
This genotype frequency varies by ancestry, with specific distribution data available through large-scale genomic databases like gnomAD.
Typical monocyte count
Carrying one copy of each allele is associated with baseline levels of monocytes, which are essential components of the immune system. Current scientific literature identifies this variant as a marker for monocyte count, but it is not considered a diagnostic indicator for any specific condition.
This heterozygous genotype is common in many global populations, though exact percentages depend on specific ancestral backgrounds.
Typical monocyte count
This genotype is associated with baseline levels of monocytes, which play a key role in the body's immune defense. While this variant has been identified in GWAS studies regarding monocyte counts, it does not imply a clinical abnormality or disease risk.
This genotype frequency is observed across diverse populations, with prevalence rates documented in standard population genetics resources.
What is rs4910511?
A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs4910511 is a specific location in the human genome where different people may carry different nucleotides. This SNP is situated within the OR52I1 gene, which stands for olfactory receptor family 52 subfamily I member 1. In the context of genomics, researchers track these variants to see if they correlate with specific physical traits or health outcomes. Because the human genome is vast, identifying these specific markers helps scientists map out the genetic architecture of complex traits. It is important to note that the presence of a specific SNP does not determine a trait on its own; rather, it is one of many factors, including other genetic variants and environmental influences, that contribute to the biological diversity observed in human populations.
The Role of the OR52I1 Gene
The OR52I1 gene encodes a protein that belongs to the olfactory receptor family. Olfactory receptors are G protein-coupled receptors that play a critical role in the sensory nervous system by interacting with odorant molecules in the nasal epithelium. This interaction initiates a neuronal response that allows the brain to perceive and distinguish different smells. While the primary function of OR52I1 is related to olfaction, genes in this family are sometimes expressed in other tissues throughout the body. Research has indicated that OR52I1 expression can be found in the male germ line stem cells in the testis. The study of olfactory receptors outside of the nose is an active area of research, as these proteins may perform diverse physiological roles beyond the detection of scents. Understanding the function of the gene where a SNP is located provides context for why that variant might be associated with specific biological traits.
Research Associations and Evidence
The association between rs4910511 and human traits is primarily derived from genome-wide association studies (GWAS). The GWAS Catalog, a comprehensive resource for such findings, has linked this specific variant to variations in monocyte counts. Monocytes are a type of white blood cell that plays a key role in the immune system's response to infection and inflammation. The evidence for this association is considered moderate, meaning that while statistical analysis has identified a correlation, it does not imply a direct causal mechanism. GWAS findings are based on large populations and identify statistical signals rather than definitive biological pathways. It is common for such studies to find associations that require further functional validation to understand the underlying biology. As with many genetic associations, the effect size of this variant on monocyte levels is likely small, and it is just one of many genetic and environmental factors that influence immune cell counts.
Population Frequency and Interpretation
Genetic variants like rs4910511 are distributed differently across various global populations. Frequency data for this SNP is available through databases like dbSNP, which aggregate information from large-scale sequencing projects. Because human populations have different ancestral histories, the frequency of a specific allele can vary significantly between groups. When interpreting genetic data, it is essential to recognize that these frequencies are statistical averages and do not predict individual health outcomes. A variant that is common in one population may be rare in another, and these differences are a normal part of human genetic variation. Consumers looking at their own genetic data should view these findings as educational information rather than medical advice. Genetic associations are complex, and the presence of a variant does not mean an individual will experience a specific trait or health condition.
What You Can Do With This Information
Information about genetic variants like rs4910511 is primarily intended for educational purposes to help individuals understand their genetic makeup. It is important to emphasize that this information is not a medical diagnosis and should not be used to make decisions about your health or medical care. If you have concerns about your immune health, such as your white blood cell or monocyte counts, you should consult with a qualified healthcare professional. A doctor can order appropriate clinical tests and interpret the results in the context of your overall health history, symptoms, and physical examination. Never use genetic data to self-diagnose or to alter any prescribed treatments or medications. Genetic research is constantly evolving, and while associations like those found in the GWAS Catalog are valuable for scientific discovery, they are not substitutes for professional medical evaluation and personalized clinical guidance.
How common is this variant?
The frequency of the rs4910511 alleles varies across different ancestral populations, with specific data available through the dbSNP database.
Frequently asked questions
What does a GWAS association mean?
A GWAS association means that researchers have found a statistical correlation between a specific genetic variant and a trait in a large group of people. It does not necessarily mean the variant causes the trait, but rather that it is a marker that appears more frequently in individuals with that trait.
Can I use this information to diagnose an immune condition?
No, you cannot use this information to diagnose any condition. Genetic associations are statistical findings and are not clinical diagnostic tools. Always consult a healthcare provider for any medical concerns.
Is OR52I1 only found in the nose?
While OR52I1 is an olfactory receptor gene primarily associated with the sense of smell, research has shown it is also expressed in other tissues, such as the male germ line stem cells in the testis.
Where can I find more information about my own genetic data?
You can consult with a genetic counselor or your primary care physician to discuss your genetic data. They can help you understand the limitations of genetic testing and how it relates to your personal health.
Sources & further reading
Educational information only, last refreshed 10/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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This variant is associated with brain-related traits in genome-wide association studies.
A synonymous variant in the OR52I1 gene identified as having clinical significance in ClinVar.
A missense variant in the OR52I1 gene annotated as likely benign in ClinVar.
A missense variant in the OR52I1 gene annotated as likely benign in ClinVar.