G6PD rs16844766: What Your Genotype Means
The rs16844766 variant is a genetic marker located within the G6PD gene, which provides instructions for an enzyme that protects red blood cells. Research associates certain variants in this gene with G6PD deficiency, a condition that may increase the risk of hemolytic anemia when exposed to specific triggers.
What each genotype means
Typical enzyme activity
This genotype represents the common, functional version of the G6PD gene. Individuals with this profile are not expected to have the specific enzyme deficiency associated with this variant.
This is the most common genotype found globally.
Reduced enzyme activity
This genotype is associated with G6PD deficiency, which can lead to increased sensitivity to certain oxidative triggers like fava beans or specific medications. Because the G6PD gene is located on the X chromosome, females with this heterozygous genotype may have a mosaic of red blood cells with varying levels of enzyme activity. Please discuss any concerns regarding medication safety or dietary triggers with your clinician or pharmacist.
This genotype is more frequently observed in populations of Mediterranean, Middle Eastern, and Indian subcontinent ancestry.
Significant enzyme deficiency
This genotype is associated with a marked reduction in G6PD enzyme activity, which increases the risk of hemolytic anemia when exposed to certain oxidative stressors, including specific drugs, infections, or fava beans. Individuals with this profile should be aware of potential triggers and consult their healthcare provider for guidance on managing this genetic trait. Always inform your medical team about this status before starting new medications.
This genotype is rare but is most commonly identified in specific Mediterranean and Middle Eastern populations where the variant is endemic.
Understanding the SNP and the G6PD Gene
The G6PD gene is located on the X chromosome and encodes the glucose-6-phosphate dehydrogenase enzyme. This enzyme is essential for red blood cells, as it produces NADPH, a molecule that protects these cells from oxidative damage. The variant rs16844766 is a single-nucleotide polymorphism (SNP) within this gene. Because the G6PD gene is highly polymorphic, researchers have identified numerous variants that can alter the enzyme's structure or reduce its activity levels. When enzyme activity is significantly reduced, red blood cells become vulnerable to destruction—a process known as hemolysis—when the body is subjected to oxidative stress. This SNP is one of many markers studied to better understand how genetic diversity in the G6PD gene influences biological responses to environmental triggers.
Research and Evidence Strength
The evidence linking specific G6PD variants to G6PD deficiency is well-established in scientific literature, particularly regarding the gene's role in hemolytic anemia. While some G6PD variants are confirmed as pathogenic and classified by the World Health Organization (WHO) based on their severity, not every SNP in the gene carries the same clinical weight. Research continues to classify variants based on their functional impact on enzyme activity and abundance. For many variants, including those less frequently discussed in clinical guidelines, the evidence remains moderate or involves variants of uncertain significance. Geneticists and pharmacologists use functional assays—often in yeast or cell-based models—to determine whether a specific variant reduces enzyme activity enough to pose a clinical risk. Because G6PD deficiency is heterogeneous, clinical interpretation often requires integrating genetic data with an individual's history and potential exposure to oxidative stressors.
Using This Information
If you have received results regarding your G6PD status, it is important to understand that having a variant does not mean you have a disease. Most people with G6PD variants are healthy and asymptomatic throughout their lives. The primary clinical relevance involves avoiding known triggers—such as certain antimalarial drugs, sulfonamides, or fava beans—that could induce acute hemolysis. If you are concerned about your genotype or are planning to start a new medication, please discuss this information with your clinician or pharmacist. They can determine if clinical G6PD activity testing is appropriate for your specific situation. Never use genetic information to self-diagnose or make decisions about your medications without professional medical guidance.
How common is this variant?
The rs16844766 variant is commonly studied within Mediterranean populations, reflecting the broader trend of G6PD polymorphism across that region.
Frequently asked questions
What is G6PD deficiency?
G6PD deficiency is a genetic condition where the body does not produce enough of the G6PD enzyme. This enzyme helps protect red blood cells from damage, so when it is lacking, the cells can break down prematurely when exposed to certain triggers.
What are the common triggers for G6PD deficiency?
Common triggers include certain medications, such as some antimalarials or antibiotics, as well as fava beans and severe infections. Exposure to these substances can lead to hemolytic anemia in susceptible individuals.
Do I need a special diet if I have a G6PD variant?
Most people with a G6PD variant do not require a special diet, but they are often advised to avoid fava beans. Always consult with a doctor or registered dietitian if you are unsure about dietary safety regarding your genetic results.
How is G6PD deficiency diagnosed?
Diagnosis is typically made through a blood test that measures the actual activity level of the G6PD enzyme in your red blood cells. Genetic testing can identify the presence of variants, but a functional activity test is often used to assess clinical risk.
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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Known as the G6PD A+ variant (p.Asn126Asp), this polymorphism is common in African populations. While it does not cause G6PD deficiency on its own, it is a component of the G6PD A- haplotype, which is associated with reduced enzyme stability and clinical deficiency.
Coding variant associated with G6PD deficiency and susceptibility to acute hemolytic anemia upon oxidative stress or exposure to hemolytic drugs.
Causes the A- variant of G6PD deficiency, common in African populations.
This variant is associated with G6PD deficiency, which can lead to hemolytic anemia upon exposure to certain medications or fava beans.
This variant is a known genetic contributor to G6PD deficiency, impacting drug metabolism and sensitivity to oxidative stress.
This variant is associated with G6PD deficiency, which can lead to hemolytic anemia when exposed to certain medications or stressors.