rs11125830: Understanding Genetic Associations with Miscarriage
The genetic variant rs11125830 is a single nucleotide polymorphism (SNP) located in an intergenic region on chromosome 2. It has been identified through genome-wide association studies as having a statistical link to the occurrence of recurrent miscarriage.
What each genotype means
Associated with miscarriage risk
This genotype has been identified in research as being associated with an increased statistical likelihood of recurrent miscarriage. Because this variant is located in an intergenic region, the specific biological mechanism influencing pregnancy outcomes remains under investigation. This association is based on broad population studies and does not predict individual outcomes; please consult with a reproductive specialist or genetic counselor to discuss your personal health history.
The frequency of this genotype varies significantly across different ancestral groups and is not uniform globally.
Variable risk profile
Carrying one copy of each allele places you in a heterozygous group for this variant. Research indicates that this locus is associated with recurrent miscarriage, though the specific impact of carrying a single copy versus two copies is complex and influenced by other genetic and environmental factors. This finding should be interpreted in the context of your overall reproductive health and discussed with a qualified healthcare provider.
This genotype is found at varying frequencies depending on ancestral background, reflecting the diversity of the human population.
Baseline risk profile
This genotype represents the alternative state for this variant. While the A allele has been associated with recurrent miscarriage in trans-ancestral studies, the GG genotype is generally considered the baseline in the context of this specific genetic association. As with all genetic findings, this result is only one piece of a larger health picture and should be discussed with a clinician if you have concerns about reproductive health.
The prevalence of this genotype is highly variable across different global populations.
What is rs11125830?
A single nucleotide polymorphism, or SNP, is a variation at a single position in a DNA sequence among individuals. The variant rs11125830 is located on chromosome 2 in a region that does not code for a specific protein, often referred to as an intergenic region. Because it is not located within a gene, it does not directly alter the structure of a protein. Instead, researchers study such variants to understand how they might influence the regulation of nearby genes or serve as markers for other biological processes. In the context of genomic research, rs11125830 is tracked in public databases like dbSNP, which catalog these variations to help scientists map the human genome and identify regions that may contribute to complex human traits or health conditions.
Research and Associations
The primary interest in rs11125830 stems from its inclusion in large-scale genome-wide association studies (GWAS) investigating pregnancy outcomes. Research, including trans-ancestral studies, has identified this specific locus as being significantly associated with recurrent miscarriage. It is important to note that while this association is statistically significant in the context of these large datasets, the evidence is considered moderate. Recurrent miscarriage is a complex, multifactorial condition influenced by a wide array of genetic, environmental, and physiological factors. A genetic association does not imply a direct cause-and-effect relationship; rather, it suggests that this variant is found more frequently in individuals who have experienced recurrent pregnancy loss compared to those who have not. Further functional research is typically required to determine if and how such intergenic variants might biologically influence reproductive health.
Understanding Your Results
If you encounter information about rs11125830 in a personal genetic report, it is essential to view it within the context of current scientific understanding. This variant is a tool for researchers to study population-level trends rather than a diagnostic marker for individual health. Because recurrent miscarriage is influenced by many variables—including maternal age, underlying health conditions, and chromosomal factors—a single SNP cannot predict an individual's reproductive outcome. You cannot use this information to diagnose a condition or determine your personal risk. If you have concerns about reproductive health or pregnancy history, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can provide personalized guidance based on your medical history and clinical evidence, rather than relying on isolated genetic markers.
How common is this variant?
The frequency of the alleles for rs11125830 is known to be variable across different ancestral populations, as is common with many intergenic SNPs identified in large-scale genomic studies.
Frequently asked questions
Is rs11125830 a cause of miscarriage?
No. rs11125830 is a genetic marker associated with recurrent miscarriage in statistical studies. It is not considered a direct cause, as miscarriage is a complex condition influenced by many biological and environmental factors.
Should I be worried if I have this variant?
No. Having a specific genotype at this location is a normal variation found in many people. It does not serve as a diagnostic test for reproductive health or pregnancy outcomes.
Can I use this information to predict my risk of miscarriage?
No. Genetic associations found in GWAS are intended for population-level research. They do not have the clinical sensitivity or specificity required to predict individual health outcomes.
Where can I find more information about this SNP?
You can look up the variant on the NCBI dbSNP database or the GWAS Catalog. These resources provide technical details and links to the original research studies that identified the association.
Sources & further reading
Educational information only, last refreshed 10/30/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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