Understanding rs2713604: A Common Genetic Variant
The genetic variant rs2713604 is a common single nucleotide polymorphism located in an intergenic region of the human genome. It has been identified in various genome-wide association studies (GWAS) as being linked to susceptibility for certain complex health traits.
What each genotype means
Common genetic variant
This genotype represents one of the common forms of this variant located near the GATA2 gene. Research into this specific site has explored potential links to coronary artery disease and other complex traits, though findings have been inconsistent across different study populations. This variant is not a diagnostic tool, and any concerns regarding cardiovascular health should be discussed with a healthcare professional.
This genotype is common, with the A allele appearing at a frequency of approximately 30% in many global populations.
Common genetic variant
This genotype represents a heterozygous state for this variant located near the GATA2 gene. While some early association studies investigated this region in the context of coronary artery disease and Parkinson's disease, results have been mixed and do not provide a clear clinical prediction. You should focus on established lifestyle and clinical factors for health management rather than this specific genetic marker.
This genotype is frequently observed in the general population, reflecting the common nature of both the A and G alleles.
Common genetic variant
This genotype represents the alternative common form of this variant near the GATA2 gene. Scientific literature has examined this variant for potential associations with complex conditions like coronary artery disease, but evidence remains inconclusive and limited in its clinical application. Please consult with your doctor regarding any personal health risks or screening needs.
This genotype is common, occurring frequently across diverse ancestral groups.
What is rs2713604?
The identifier rs2713604 refers to a specific single nucleotide polymorphism (SNP) in the human genome. A SNP is a variation at a single position in a DNA sequence among individuals. Because this variant is described as intergenic, it is located in the DNA sequences between genes rather than within the coding regions that provide instructions for making proteins. While intergenic regions were once referred to as 'junk DNA,' modern research has shown that these areas often contain regulatory elements that control how genes are turned on or off. Scientists track these variants using 'rs' numbers, which stand for 'reference SNP,' to ensure that researchers worldwide are studying the exact same location on the chromosome. By cataloging these variations, the scientific community can better understand the subtle genetic differences that contribute to the diversity of human traits and disease risks.
Research and Associations
The variant rs2713604 is primarily recognized through its inclusion in genome-wide association studies (GWAS). These studies scan the genomes of large groups of people to find statistical correlations between specific genetic markers and particular traits or diseases. The evidence strength for rs2713604 is currently categorized as moderate. This means that while statistical signals have been detected, the biological mechanism—how this specific change in DNA might influence a physical trait or disease risk—is not yet fully understood. It is important to note that a statistical association in a GWAS does not prove causation. Many factors, including environment, lifestyle, and other genetic variants, play significant roles in the development of complex diseases. Because the evidence is moderate, researchers continue to investigate this region to determine if the variant is directly involved in a biological pathway or if it is simply a marker that happens to be inherited alongside other, more influential genetic factors.
Interpreting Your Results
If you have encountered rs2713604 in a personal genetic report, it is helpful to understand what this information means in a practical sense. Because this variant is associated with complex disease susceptibility, it is not a diagnostic tool. It cannot predict with certainty whether an individual will develop a specific condition. Complex traits are polygenic, meaning they are influenced by the combined effects of many different variants across the entire genome, as well as environmental influences. You cannot use this information to make medical decisions or to diagnose yourself with a health condition. If you are concerned about your health or your risk for specific diseases, the most appropriate step is to consult with a qualified healthcare provider or a genetic counselor. They can help you interpret your overall health profile, consider your family history, and discuss whether any further clinical testing or lifestyle adjustments are appropriate for your specific situation.
How common is this variant?
The rs2713604 variant is considered common, meaning it is found at significant frequencies across various global ancestral populations.
Frequently asked questions
Is rs2713604 a diagnostic test for disease?
No, rs2713604 is not a diagnostic test. It is a genetic marker associated with complex traits in research studies, but it does not determine whether you will develop a disease.
What does 'intergenic' mean?
Intergenic refers to the DNA sequences located between genes. These regions do not code for proteins but often contain regulatory sequences that help control gene expression.
Should I be worried if I have a specific genotype for this SNP?
There is no reason for concern based on this variant alone. Genetic variants are a normal part of human diversity, and most common SNPs have a neutral impact on health.
Where can I find more information about this variant?
You can search for the rsID on the NCBI dbSNP database or the GWAS Catalog. These resources provide the most up-to-date scientific data regarding known associations.
Sources & further reading
Educational information only, last refreshed 10/4/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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