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NBEAL1 rs6728861: What Your Genotype Means

rs6728861
Trait
Moderate evidenceGene: NBEAL1

The rs6728861 variant is a single nucleotide polymorphism located near the NBEAL1 gene. It is recognized in genomic research for its high linkage disequilibrium with structural variants associated with various clinical traits.

What each genotype means

A/ALower attention

Typical genetic profile

This genotype represents the most common form of this variant in many populations. Research indicates this SNP is located near the NBEAL1 gene and is in linkage disequilibrium with structural variants, though its direct functional impact on specific traits remains a subject of ongoing study.

This is the most common genotype observed in most global populations.

A/GLower attention

Typical genetic profile

Carriers of this genotype possess one copy of the minor allele. While this SNP is associated with structural variants near the NBEAL1 gene, current evidence does not suggest a significant clinical impact for this specific genotype.

This genotype is found at moderate frequencies across various ancestral groups.

G/GLower attention

Typical genetic profile

This genotype represents the minor allele homozygote. While this variant is linked to structural variations in the NBEAL1 region, there is no established clinical diagnosis or specific trait outcome associated with this genotype alone.

This genotype is less common than the major allele homozygote in most studied populations.

Understanding the Variant

The rs6728861 variant is a specific change in the DNA sequence, categorized as a single nucleotide polymorphism (SNP). In genomics, SNPs represent the most common type of genetic variation among people, where a single building block of DNA—a nucleotide—is replaced by another. This particular variant is situated in the genomic region near the NBEAL1 gene. Researchers often study such variants because they can serve as markers for other, more complex genetic changes nearby. Because rs6728861 is in high linkage disequilibrium with structural variants, it is frequently used in genome-wide association studies to help identify regions of the genome that may influence specific biological processes or clinical outcomes. It is important to note that being in linkage disequilibrium means this SNP is often inherited alongside other nearby genetic changes, making it a useful tool for researchers mapping the genetic architecture of human traits.

The Role of NBEAL1

The NBEAL1 gene, or Neurobeachin-like 1, provides instructions for making a protein that is part of a family of proteins involved in intracellular trafficking and membrane dynamics. While the exact function of the NBEAL1 protein is still being characterized by the scientific community, its location in the genome is of significant interest. Genetic variants near this gene have been identified in various studies as being associated with complex traits. Understanding the function of genes like NBEAL1 is a major focus of modern molecular biology, as it helps scientists bridge the gap between a simple DNA sequence change and the observable physical or clinical characteristics of an individual. Research into this gene continues to evolve, and as more data becomes available, the specific biological pathways influenced by NBEAL1 will become clearer, providing deeper insight into how this region of the genome contributes to human health and disease susceptibility.

Research and Evidence

The evidence linking rs6728861 to clinical traits is currently classified as moderate. In the context of the GWAS Catalog and other genomic databases, this variant is noted for its statistical associations rather than a direct, causative role in a specific disease. Because this SNP is often a proxy for other structural variants, researchers must be careful to distinguish between the marker itself and the actual functional change occurring in the DNA. The strength of these associations can vary depending on the population being studied, and findings are often subject to replication in larger, more diverse cohorts. As with many variants identified through association studies, the clinical significance is not yet fully established. It is essential for readers to understand that these statistical associations are population-level observations and do not provide a diagnostic tool for individuals. Ongoing research is required to fully elucidate the mechanisms by which this genomic region influences human health.

Interpreting Your Information

Information regarding genetic variants like rs6728861 is intended for educational purposes and should not be used to make medical decisions. If you have received results from a genetic test, it is important to discuss them with a qualified healthcare provider or a genetic counselor who can help interpret the findings in the context of your personal and family health history. Genetic data is complex, and a single variant rarely determines health outcomes on its own. You cannot use this information to diagnose yourself or predict future health conditions. Instead, view this as a piece of the broader puzzle of human genetics. Always consult with a clinician before making any changes to your lifestyle or medical care based on genetic information. Remember that science is constantly evolving, and our understanding of how specific variants like rs6728861 interact with the environment and other genes will continue to grow over time.

How common is this variant?

The rs6728861 variant is considered a common SNP, with its alleles appearing at varying frequencies across different global ancestral populations.

Frequently asked questions

What does it mean if a variant is in linkage disequilibrium?

Linkage disequilibrium means that specific alleles at different locations on a chromosome are inherited together more often than would be expected by chance. This allows researchers to use one variant as a marker to track other nearby genetic changes.

Can I use this information to diagnose a disease?

No. Genetic associations are statistical findings observed in large groups of people and cannot be used to diagnose an individual. Always consult a medical professional for health concerns.

Is rs6728861 a rare mutation?

No, rs6728861 is classified as a common variant. This means it is found frequently in the general population rather than being a rare, disease-causing mutation.

Where can I learn more about my specific genetic results?

You should speak with a genetic counselor or your primary care physician. They can help you understand your results in the context of your overall health and family history.

Sources & further reading

Educational information only, last refreshed 11/7/2026. Not medical advice — these associations describe population statistics, not individual predictions.

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