CYP2D6 rs5030862: What Your Genotype Means
The genetic variant rs5030862 is a single-nucleotide deletion within the CYP2D6 gene that defines the nonfunctional CYP2D6*6 allele. This deletion causes a frameshift mutation that completely eliminates activity of the cytochrome P450 2D6 enzyme produced from that chromosome. Carrying this variant can alter how the body processes numerous medications, potentially shifting an individual toward an intermediate or poor metabolizer phenotype depending on their second CYP2D6 allele.
What each genotype means
Normal enzyme activity
This genotype represents the wild-type or reference sequence for this specific variant. Individuals with this profile are expected to have normal CYP2D6 enzyme function, assuming no other variants are present. Please discuss any concerns regarding medication metabolism with your clinician or pharmacist.
This is the most common genotype observed across global populations.
Reduced enzyme activity
This genotype indicates you carry one copy of the A allele, which is associated with the inactive CYP2D6*12 variant. You may have reduced capacity to metabolize certain medications processed by the CYP2D6 enzyme. Please consult your healthcare provider or pharmacist to determine if this impacts your specific medication regimen.
This genotype is relatively rare, with the A allele occurring at a frequency of approximately 0.01 in European populations.
Nonfunctional enzyme activity
This genotype indicates you carry two copies of the A allele, which defines the inactive CYP2D6*12 variant. This may result in a significantly reduced or absent ability to process drugs that rely on the CYP2D6 enzyme for metabolism. It is important to discuss this result with your clinician or pharmacist before starting or adjusting any medications.
This genotype is very rare, occurring at a low frequency primarily in European populations.
What Is rs5030862 and Where Is It Located?
The variant rs5030862 is an indel polymorphism located in the CYP2D6 gene on chromosome 22. In standard pharmacogenomic nomenclature cataloged by the Pharmacogene Variation (PharmVar) Consortium and dbSNP, it is formally known as c.1707delT (often historically annotated as 1707delT or p.Trp170Ter frameshift). The normal genetic code contains a thymine at this position, whereas the altered allele features a single-base deletion. This missing base disrupts the triplet codon reading frame during translation, leading to an early stop codon and a severely truncated, inactive protein. In clinical pharmacogenetics, rs5030862 serves as the core defining variant for the CYP2D6*6 haplotype. Because CYP2D6 alleles are inherited in a codominant manner, inheriting this deletion means that the affected chromosome cannot produce a working CYP2D6 enzyme.
The Biological Function of CYP2D6
The CYP2D6 gene encodes cytochrome P450 2D6, a membrane-bound hemoprotein located predominantly in the endoplasmic reticulum of liver cells. Despite accounting for only a small percentage of total hepatic cytochrome P450 content, CYP2D6 participates in the oxidative breakdown and metabolic clearance of roughly 20 to 25 percent of all clinically used drugs. Its substrates encompass diverse therapeutic classes, including selective serotonin reuptake inhibitors (SSRIs), tricyclic antidepressants, antipsychotics, beta-blockers, antiarrhythmics, and opioid analgesics such as codeine and tramadol. For standard drugs, CYP2D6 typically inactivates the compound to facilitate excretion. Conversely, for prodrugs like codeine or tamoxifen, the CYP2D6 enzyme is required to convert the inactive precursor into its therapeutically active form. A lack of functional enzyme alters expected circulating drug levels significantly.
Clinical Evidence and Phenotypic Impact
Consensus guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG) classify CYP2D6*6 as a verified no-function allele with an activity score of 0. When evaluated alone, direct drug-variant clinical trials focusing exclusively on rs5030862 are limited due to its low population frequency; hence its standalone catalog evidence strength is often considered limited compared to common alleles like *4. However, within composite diplotype testing, its biological consequence is well proven. An individual with one nonfunctional allele and one normal allele is generally classified as an intermediate metabolizer, while an individual carrying two nonfunctional alleles (such as *6/*6 or *4/*6) is a poor metabolizer. Poor metabolizers face higher risks of side effects from standard doses of substrate medications or therapeutic failure from prodrugs.
Population Patterns and Ancestral Frequencies
The rs5030862 deletion is relatively uncommon across global populations, exhibiting distinct ancestry-specific distributions. Comprehensive genomic databases, including gnomAD and the CPIC allele frequency tables, document that the CYP2D6*6 allele is primarily detected in populations of European ancestry, where its minor allele frequency hovers around 1% (roughly 0.01). In contrast, the variant is exceptionally rare or entirely undetected in East Asian, South Asian, African, and Indigenous American cohorts, where other nonfunctional or reduced-function alleles (such as *10, *17, or *41) predominate. Because of its overall low prevalence, homozygous deletion genotypes are exceedingly rare in the general public, and most people who carry the variant do so in a heterozygous state paired with a more common allele.
Applying Genotype Findings in Daily Life
Discovering an rs5030862 deletion on a commercial genetic test or pharmacogenomic panel provides useful contextual insight into how your liver metabolizes certain medications, but it does not represent a medical diagnosis or disease risk. Inheriting a no-function allele does not cause physical symptoms on its own. Furthermore, CYP2D6 metabolism is shaped by diplotypes—which require knowing your other CYP2D6 copy—as well as copy number variations (gene duplications or deletions) and concurrent drug interactions. You should never start, stop, or adjust prescription dosages based solely on an automated raw DNA report. If you have questions about how your genotype might influence a specific prescription, always consult a licensed healthcare provider, medical geneticist, or clinical pharmacologist.
How common is this variant?
The rs5030862 deletion has a minor allele frequency of approximately 0.01 (about 1%) in populations of European ancestry and is extremely rare or virtually absent in African, Asian, and Latino populations.
Frequently asked questions
Does carrying the rs5030862 deletion mean I am sick?
No, carrying this variant is not a medical illness and causes no direct physical symptoms. It simply indicates that one or both copies of your CYP2D6 gene do not produce an active enzyme for breaking down specific medications.
What is the difference between CYP2D6*6 and rs5030862?
The rsID rs5030862 designates the specific genomic deletion (c.1707delT) within the DNA sequence. In pharmacogenetic star-allele nomenclature, this specific single-nucleotide deletion serves as the defining marker for the no-function CYP2D6*6 haplotype.
Should I change my medication dosage if I have this variant?
No, you should never alter your medication doses on your own. Pharmacogenomic interpretation requires assessing your full CYP2D6 diplotype, other medications you take, and clinical guidance from your prescribing physician or clinical pharmacist.
Which types of drugs are affected by CYP2D6 variation?
CYP2D6 participates in processing roughly a quarter of common prescription medications, including selective serotonin reuptake inhibitors, tricyclic antidepressants, antipsychotics, certain beta-blockers, and opioid painkillers like codeine and tramadol.
Sources & further reading
Educational information only, last refreshed 9/6/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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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.