G6PD rs1050993: What Your Genotype Means
The rs1050993 variant is a genetic change located within the G6PD gene, which provides instructions for making an enzyme that protects red blood cells. This variant is associated with G6PD deficiency, a condition that can lead to hemolytic anemia when an individual is exposed to certain oxidative stressors, such as specific medications or fava beans.
What each genotype means
Typical enzyme activity
This genotype is considered the reference or wild-type sequence for this specific location in the MTR gene. It is not associated with G6PD deficiency, which is a condition linked to specific variants in the G6PD gene rather than this location. Please note that rs1050993 is located in the MTR gene, not the G6PD gene.
This is a common genotype found globally across diverse populations.
Typical enzyme activity
This genotype represents a heterozygous state at this location in the MTR gene. Current research does not associate this specific variant with G6PD deficiency or altered G6PD enzyme function. As this variant is located in the MTR gene, it is distinct from the genetic markers used to diagnose G6PD deficiency.
This genotype is frequently observed in many populations worldwide.
Typical enzyme activity
This genotype is a common variation in the MTR gene. It is not a marker for G6PD deficiency, and there is no evidence linking this specific genotype to the clinical symptoms of hemolytic anemia or medication sensitivity associated with G6PD. Always consult with a healthcare provider regarding any concerns about genetic testing results or medication safety.
This genotype is common, with a global minor allele frequency of approximately 26%.
Understanding the rs1050993 Variant
The rs1050993 variant is a single nucleotide polymorphism (SNP) found within the G6PD gene, which is located on the X chromosome. Because males have only one X chromosome, they are more likely to experience the clinical effects of variants in this gene if they inherit a deficient allele. Females have two X chromosomes, meaning they may be carriers or have varying levels of enzyme activity depending on which X chromosome is active in their cells. This specific variant is one of many known changes in the G6PD gene that can alter the structure or stability of the glucose-6-phosphate dehydrogenase enzyme. By studying these variations, researchers aim to better understand how genetic differences influence individual responses to environmental triggers and medical treatments.
The Role of the G6PD Gene
The G6PD gene encodes the glucose-6-phosphate dehydrogenase enzyme, which plays a critical role in the pentose phosphate pathway. This pathway is essential for producing NADPH, a molecule that helps maintain the levels of glutathione in red blood cells. Glutathione acts as an antioxidant, protecting these cells from oxidative damage caused by reactive oxygen species. When the G6PD enzyme is deficient or functions poorly, red blood cells become vulnerable to oxidative stress. This can lead to the premature destruction of red blood cells, a process known as hemolysis. While many people with G6PD variants remain asymptomatic throughout their lives, others may experience jaundice or anemia when their red blood cells are overwhelmed by oxidative triggers.
Research and Clinical Associations
Scientific research has established a clear link between various G6PD variants and the risk of hemolytic anemia. The evidence for these associations is considered moderate to strong, as clinical studies have consistently shown that individuals with certain G6PD genotypes are at higher risk for adverse reactions to specific drugs, such as certain antimalarials or antibiotics. However, it is important to note that the clinical impact of a specific variant can be highly variable. Many variants are classified as having uncertain significance, meaning their exact effect on enzyme activity is not yet fully understood. Current research is focused on using high-throughput functional assays to better classify these variants and improve the safety of clinical prescribing practices for patients with G6PD deficiency.
Population Frequency and Distribution
The frequency of G6PD variants varies significantly across different global populations, often reflecting historical evolutionary pressures. In regions where malaria has been historically prevalent, such as parts of Africa, the Mediterranean, and Southeast Asia, certain G6PD variants have reached high frequencies because they may offer some protection against severe malaria. Consequently, the prevalence of G6PD deficiency is much higher in these populations compared to others. Because of this ancestry-specific distribution, genetic screening for G6PD deficiency is often prioritized in clinical settings for individuals from these regions, especially before the administration of medications known to trigger hemolysis in deficient individuals.
Managing Your Genetic Information
If you are aware that you or a family member carries a G6PD variant, it is essential to discuss this information with a healthcare professional. This information does not constitute a medical diagnosis, and the presence of a variant does not guarantee that you will experience health issues. Clinicians use this information to make informed decisions about medication safety, as there are often safe alternatives available for patients with G6PD deficiency. Never make changes to your prescribed medications based on genetic test results without consulting your doctor or pharmacist. They can provide guidance on how to manage potential risks and ensure that any necessary treatments are administered safely based on your specific genetic profile and clinical history.
How common is this variant?
The frequency of G6PD variants is highly variable by ancestry, with significantly higher prevalence rates observed in Mediterranean, African, and Southeast Asian populations.
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 is necessary for protecting red blood cells from damage caused by oxidative stress.
Can I eat fava beans if I have a G6PD variant?
Individuals with G6PD deficiency may experience hemolysis after consuming fava beans, a condition sometimes called favism. You should discuss your specific genetic status and dietary risks with your doctor.
Does having a G6PD variant mean I have anemia?
Not necessarily. Many people with G6PD variants are asymptomatic and do not have chronic anemia. Hemolysis typically only occurs when the body is exposed to specific triggers like certain drugs or infections.
How is G6PD deficiency diagnosed?
Diagnosis is typically performed through a blood test that measures the activity level of the G6PD enzyme. Genetic testing can also identify specific variants within the G6PD gene.
Are there medications I should avoid?
Yes, there are certain medications that can trigger hemolysis in people with G6PD deficiency. Always inform your healthcare provider of your G6PD status before starting any new medication.
Sources & further reading
Educational information only, last refreshed 10/8/2026. Not medical advice — these associations describe population statistics, not individual predictions.
Curious what your genotype is for rs1050993?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29Related variants in G6PD
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 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.