G6PD rs76723693: Understanding This Rare Genetic Variant
The rs76723693 variant is a rare genetic change located within the G6PD gene. It has been identified in research as a missense variant associated with reduced G6PD enzyme activity and potential impacts on red blood cell health.
What each genotype means
Typical enzyme activity
This genotype represents the most common form of the G6PD gene, which is typically associated with normal enzyme function. Individuals with this profile are generally not at an increased risk for G6PD-deficiency-related hemolytic anemia based on this specific variant.
This is the most common genotype found across all global populations.
Potential reduced enzyme activity
This genotype indicates the presence of the rare rs76723693 variant. Research suggests this variant may influence G6PD enzyme function and has been associated with altered HbA1c levels in individuals of African ancestry, potentially impacting clinical monitoring. You should discuss this finding with your healthcare provider to understand if it affects your risk for hemolytic anemia or the interpretation of your blood test results.
This genotype is rare and primarily observed in individuals of African ancestry.
Likely reduced enzyme activity
This genotype indicates the presence of two copies of the rare rs76723693 variant. Because G6PD is located on the X chromosome, this profile is most relevant for biological males or females who have inherited the variant on both X chromosomes. This may be associated with reduced G6PD enzyme activity and a potential risk for hemolytic anemia when exposed to certain medications or stressors; please consult your clinician regarding your specific health profile.
This genotype is extremely rare and has been identified in specific cohorts of African ancestry.
What is the rs76723693 Variant?
The rs76723693 variant is a specific change in the DNA sequence of the G6PD gene, often referred to in scientific literature as p.Leu353Pro. A single nucleotide polymorphism (SNP) like this represents a variation at a single position in the genome. This particular variant is classified as a missense mutation, meaning the change in the DNA code results in a different amino acid being incorporated into the G6PD protein structure. Because the G6PD gene is located on the X chromosome, the way this variant affects an individual depends on their sex and the number of X chromosomes they carry. Research, such as data from the Trans-Omics for Precision Medicine (TOPMed) program, has highlighted this variant as a rare coding change that may influence physiological markers like hemoglobin A1c levels, suggesting it plays a role in how the body processes certain metabolic functions.
The Role of the G6PD Gene
The G6PD gene provides instructions for making an enzyme called glucose-6-phosphate dehydrogenase. This enzyme is essential for the proper function of red blood cells, as it helps protect them from oxidative stress—a type of damage caused by unstable molecules. When the G6PD enzyme is deficient or not functioning correctly, red blood cells can become fragile and break down prematurely, a process known as hemolysis. This condition is known as G6PD deficiency. While many people with G6PD variants remain asymptomatic throughout their lives, they may experience hemolytic anemia when exposed to specific triggers. These triggers can include certain medications, such as primaquine or rasburicase, infections, or the ingestion of fava beans. Understanding the function of this gene is critical for identifying individuals who might be at risk for these adverse reactions.
Research and Clinical Significance
Scientific research into rs76723693 is ongoing, and its clinical significance is currently being evaluated. Studies have observed that this variant is associated with lower hemoglobin A1c levels in certain populations, which is a marker often used to monitor long-term blood sugar control. Because G6PD deficiency is a complex condition with over 800 known variants, many of which are classified as variants of uncertain significance (VUS), researchers are working to categorize them based on their impact on enzyme activity and protein abundance. The evidence for rs76723693 is considered moderate, as it is a rare variant that requires further functional validation to fully understand its clinical implications. It is important to note that genetic testing results should always be interpreted by a qualified healthcare professional who can correlate the findings with an individual's clinical history and current health status.
Population Frequency and Distribution
The rs76723693 variant is considered rare in the general population. Large-scale genomic studies, such as those conducted by the TOPMed program, have identified this variant at low frequencies, particularly in specific ancestral groups. Because G6PD deficiency is one of the most common enzyme deficiencies worldwide, affecting hundreds of millions of people, the distribution of specific variants like rs76723693 can vary significantly based on geography and ancestry. While some G6PD variants are highly polymorphic and common in certain regions, others are found only in small subsets of the population. The rarity of rs76723693 means that it is not typically included in standard, limited-scope pharmacogenomic testing panels, which often focus only on the most common deficiency-causing alleles. As genomic sequencing becomes more accessible, our understanding of the prevalence and distribution of such rare variants continues to improve.
Managing Your Genetic Information
If you have received information about the rs76723693 variant, it is important to understand what you can and cannot do with this data. Genetic information is a tool for insight, not a medical diagnosis. You cannot use this information to self-diagnose or make decisions about your health or medication regimen. If you are concerned about G6PD deficiency or potential reactions to medications, the most important step is to discuss these findings with your clinician or a pharmacist. They can provide context based on your personal health history, current medications, and clinical symptoms. Avoid making any changes to prescribed treatments without professional guidance. Furthermore, remember that genetic research is constantly evolving; a variant that is currently classified as having uncertain significance may be better understood in the future as more data becomes available.
How common is this variant?
The rs76723693 variant is rare, with a minor allele frequency reported at approximately 0.5% in specific multi-ancestry cohorts.
Frequently asked questions
What is G6PD deficiency?
G6PD deficiency is a genetic condition where the body lacks enough of the G6PD enzyme to protect red blood cells from damage. This can lead to hemolytic anemia when the person is exposed to certain triggers like specific drugs or foods.
Can I be tested for rs76723693?
Yes, this variant can be identified through genetic sequencing. However, it is not typically included in standard, basic pharmacogenomic screening panels used in many clinical settings.
Does having this variant mean I have G6PD deficiency?
Not necessarily. Genetic variants are just one piece of the puzzle, and clinical symptoms depend on the actual enzyme activity levels in your blood. A doctor would need to perform a blood test to measure G6PD enzyme activity to confirm a deficiency.
What should I do if I have this variant?
You should share your genetic report with your doctor or pharmacist. They can help you understand if this variant is relevant to your health and if you need to avoid specific medications that might trigger hemolysis.
Sources & further reading
Educational information only, last refreshed 10/1/2026. 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.
Causes G6PD deficiency and favism risk in Mediterranean 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.