rs74156208: Understanding This Genetic Variant and Female Infertility
The genetic variant rs74156208 is a single nucleotide polymorphism located in an intergenic region of the human genome. It has been identified in large-scale genome-wide association studies as having a statistical association with female infertility phenotypes.
What each genotype means
Typical reproductive risk profile
This genotype represents the most common version of this genetic location in the general population. Research indicates that individuals with this genotype do not carry the specific genetic signal associated with increased infertility risk at this site.
Carried by the majority of the population, as the G allele is the minor allele with a frequency of approximately 18%.
Slightly increased infertility association
Large-scale genome-wide association studies have identified this variant as being statistically associated with female infertility phenotypes. Carrying one copy of the G allele suggests a modest increase in statistical risk compared to those without it, though this does not imply a diagnosis or certainty of reproductive outcomes.
This heterozygous genotype is found in a significant portion of the population, consistent with a minor allele frequency of approximately 18%.
Increased infertility association
This genotype contains two copies of the variant identified in large-scale studies as being associated with female infertility. While this statistical association is documented, it is important to remember that reproductive health is complex and influenced by many genetic and environmental factors; this result is not a medical diagnosis.
This homozygous genotype is the least common of the three, occurring at a frequency consistent with the minor allele frequency of approximately 18%.
What is rs74156208?
The variant rs74156208 is a specific change in the DNA sequence, identified by its reference SNP ID (rsID) in public databases. It is located on chromosome 10 at position 61,509,370 (based on the hg38 assembly). Because this variant is situated in an intergenic region—the space between protein-coding genes—it does not directly alter the sequence of a protein. Instead, researchers often study such variants to see if they influence the regulation of nearby genes, such as TMEM26, which is the nearest coding gene by transcription start site. In genetic research, identifying these markers helps scientists map the complex architecture of reproductive health, though the specific biological mechanism by which this variant might influence fertility remains a subject of ongoing investigation.
Research and Evidence Strength
The association between rs74156208 and female infertility was identified through large-scale genome-wide association studies (GWAS). These studies compare the genomes of thousands of individuals to find statistical correlations between specific DNA variants and health traits. Current research, including meta-analyses of multiple cohorts, has reported this variant as a lead SNP associated with female infertility, with a p-value reaching genome-wide significance. The evidence strength for this association is considered moderate, as it reflects a statistical signal observed across large populations rather than a direct, causative mutation. It is important to note that infertility is a multifactorial condition influenced by a combination of genetic, environmental, and lifestyle factors. A statistical association in a GWAS does not imply that the variant is the sole cause of infertility in any individual.
Population Frequency
The frequency of the rs74156208 variant varies across different ancestral groups, but it is generally categorized as having a low to moderate minor allele frequency. In large-scale meta-analyses, the average minor allele frequency has been reported at approximately 18.4% across all ancestries studied. Because genetic variants are distributed differently across global populations due to historical migration and evolutionary pressures, the prevalence of this specific allele may be higher or lower depending on an individual's ancestral background. Researchers use these frequency data to better understand the genetic landscape of reproductive traits and to ensure that genetic studies are representative of diverse human populations.
What This Information Means for You
If you have encountered this variant in a genetic report, it is essential to understand that it represents a statistical association rather than a medical diagnosis. Genetic variants identified in GWAS are tools for researchers to understand biological pathways; they are not currently used as clinical diagnostic tests for infertility. Because infertility is complex and involves many variables, a single genetic marker cannot predict reproductive outcomes. You cannot use this information to make medical decisions or change your health management. If you have concerns about fertility or reproductive health, the most appropriate step is to consult with a reproductive endocrinologist or a qualified healthcare provider. They can offer personalized evaluations based on your medical history, physical examinations, and clinical testing, which are far more informative than any single genetic variant.
How common is this variant?
The minor allele frequency for rs74156208 is approximately 18.4% across diverse ancestral cohorts, indicating it is a relatively common variant in the general population.
Frequently asked questions
Does having the rs74156208 variant mean I am infertile?
No. This variant is associated with a statistical increase in risk across large populations, but it is not a diagnostic test for infertility. Many factors, including age, health, and environment, play a much larger role in reproductive health.
Can I use this genetic information to predict my fertility?
No. Genetic variants identified in research studies are not predictive of individual fertility. You should not use this information to make assumptions about your reproductive health.
What should I do if I am concerned about my fertility?
If you have concerns about fertility, you should schedule an appointment with a reproductive specialist or your primary healthcare provider. They can provide a comprehensive clinical assessment that is far more accurate than genetic data alone.
Is this variant linked to any specific medical condition?
Research has linked this variant to female infertility phenotypes in large-scale association studies. It is not currently linked to other specific medical conditions in a clinical diagnostic capacity.
Sources & further reading
Educational information only, last refreshed 11/2/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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