CYP2D6 rs5030867: Understanding the *7 Variant
The rs5030867 variant is a specific genetic change located within the CYP2D6 gene. It is primarily recognized for defining the CYP2D6*7 allele, which results in a non-functional enzyme that may impact how an individual processes certain medications.
What each genotype means
Normal enzyme activity
This genotype indicates the absence of the CYP2D6*7 variant. Individuals with this result are typically classified as normal metabolizers, meaning their CYP2D6 enzyme function is expected to be standard. Please discuss any medication dosing concerns with your clinician or pharmacist.
This is the most common genotype found in the general population.
Reduced enzyme activity
This genotype indicates you carry one copy of the CYP2D6*7 variant, which is associated with a loss of enzyme function. You may be classified as an intermediate metabolizer, which can affect how your body processes certain medications. Please discuss your medication response and dosing with your clinician or pharmacist.
This genotype is relatively rare, occurring in a small percentage of the population.
Absent enzyme activity
This genotype indicates you carry two copies of the CYP2D6*7 variant, which is a no-function allele. Individuals with this result are often classified as poor metabolizers, which may significantly impact the metabolism of drugs processed by this enzyme. Please discuss your medication response and dosing with your clinician or pharmacist.
This genotype is very rare in the general population.
What is rs5030867?
The rs5030867 variant is a single nucleotide polymorphism (SNP) found on chromosome 22. In scientific literature, it is often referred to by its legacy name, 2935A>C, or by the amino acid change it causes, H324P. This specific genetic alteration occurs within the coding region of the CYP2D6 gene. When the C allele is present at this position, it characterizes the CYP2D6*7 allele. This variant is significant because it leads to the production of an inactive enzyme, meaning the protein cannot perform its normal chemical tasks. Because the CYP2D6 gene is highly polymorphic, meaning it has many different versions, identifying specific SNPs like rs5030867 is a key part of understanding an individual's unique genetic profile regarding drug metabolism.
The Role of the CYP2D6 Gene
The CYP2D6 gene provides instructions for making an enzyme that belongs to the cytochrome P450 family. These enzymes are primarily located in the liver and are responsible for breaking down, or metabolizing, a vast array of substances, including many prescription medications. Common drugs processed by this enzyme include certain antidepressants, antipsychotics, beta-blockers, and pain medications. Because this enzyme is so active in clearing drugs from the body, variations in the gene can lead to significant differences in how people respond to treatment. Some versions of the gene are fully functional, while others, like the one defined by rs5030867, result in little to no enzyme activity. When an individual carries non-functional alleles, they may be classified as a 'poor metabolizer,' which can influence how quickly a drug is cleared from their system.
Research and Clinical Significance
Research into rs5030867 focuses on its role in pharmacogenomics, the study of how genes affect drug response. The evidence linking the C allele to the inactive *7 phenotype is well-documented in clinical genetics. However, the clinical impact of this variant depends heavily on the specific medication being prescribed and the individual's overall diplotype—the combination of alleles inherited from both parents. While the *7 allele is known to be non-functional, it is relatively rare compared to other common null alleles like *4. Because of this, clinical guidelines often emphasize testing for a broad panel of variants to get a complete picture of a patient's metabolic status. If you are concerned about how your genetics might influence your response to a specific medication, it is essential to discuss this with your healthcare provider or a clinical pharmacist who can interpret these results in the context of your medical history.
What You Can Do With This Information
Genetic information regarding variants like rs5030867 is a tool for personalized medicine, but it should never be used to make independent medical decisions. Knowing your genotype does not provide a diagnosis, nor does it predict a guaranteed reaction to any drug. Instead, this information is intended to be shared with your doctor or pharmacist. They can use your genetic data, alongside other factors like your age, weight, liver function, and other medications you may be taking, to make informed decisions about drug selection or dosing. If you have received a report indicating you carry the rs5030867 variant, keep this information in your medical records. Always consult a qualified professional before making any changes to your prescribed treatments, as they are the only ones equipped to translate genetic findings into safe and effective clinical care.
How common is this variant?
The rs5030867 variant is relatively rare, with the C allele defining the *7 variant occurring at low frequencies in most populations. It is most frequently studied in European ancestry groups.
Frequently asked questions
What does it mean to be a CYP2D6 poor metabolizer?
A poor metabolizer has little to no functional CYP2D6 enzyme activity. This can cause certain medications to build up in the body, potentially increasing the risk of side effects or requiring a dosage adjustment.
Does having the rs5030867 variant mean I will have a bad reaction to all drugs?
No. This variant only affects the metabolism of drugs processed by the CYP2D6 enzyme. Many other medications are processed by different enzymes and would not be affected by this specific genetic variant.
Should I get tested for CYP2D6 variants?
Clinical testing is usually recommended by a physician if you are experiencing issues with medication efficacy or side effects. You should discuss the necessity of pharmacogenomic testing with your healthcare provider.
Can I change my CYP2D6 genotype?
No, your genotype is inherited and remains the same throughout your life. However, your doctor can adjust your medication plan based on your genetic profile to ensure you receive the safest and most effective care.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Get my report — $29Related variants in CYP2D6
This variant is a key marker for the CYP2D6*10 allele, which results in reduced enzymatic activity and altered metabolism of various psychiatric and analgesic medications.
This variant defines the CYP2D6*4 non-functional allele, which causes impaired metabolism of numerous clinically prescribed medications including antidepressants, tamoxifen, and codeine.
Defines the CYP2D6*17 allele (p.Thr107Ile), which exhibits reduced enzyme activity towards substrates like codeine and certain antidepressants.
Defines the CYP2D6*29 variant (p.Val338Met) conferring decreased metabolic capacity, primarily observed in populations of African descent.
Promoter variant defining the CYP2D6*41 allele, associated with reduced enzyme expression and decreased metabolic capacity for various drugs.
Defines the non-functional CYP2D6*41 splice defect associated with intermediate metabolizer phenotype affecting codeine, tamoxifen, and SSRI metabolism.