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What Is Genotype vs. Phenotype?

Genotype refers to the specific genetic makeup of an individual — the particular combination of alleles they carry for one or more genes. Phenotype refers to the observable characteristics that result, in part, from that genotype, such as eye color, height, or disease presence.

Phenotype is shaped not only by genotype but also by environmental and lifestyle factors, which is why two people with similar genotypes can display different phenotypes. Understanding the relationship between genotype and phenotype is central to fields like pharmacogenomics, where a person's genotype can help predict how they will respond to certain medications.

Related Definitions

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Whole genome sequencing reads 100% of your DNA, so your results show your genotype across more than 30,000 genes. Sequencing's Kit Bundles include a Whole Genome Sequencing kit and Next Gen Disease Screening, which analyzes your genome for more than 15,000 conditions. Bring your results to a doctor or pharmacist to talk about what they mean, including how you may respond to medications.

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Frequently Asked Questions About Genotype and Phenotype

What is the difference between genotype and phenotype?

Genotype is a person's specific genetic makeup, the particular combination of alleles they carry for one or more genes. Phenotype is the observable characteristics that result, in part, from that genotype.

What are examples of a phenotype?

Eye color, height and the presence of a disease are all examples of phenotypes.

Does genotype alone determine phenotype?

No. Phenotype is shaped by genotype and also by environmental and lifestyle factors. That is why two people with similar genotypes can show different phenotypes.

Why does the difference matter for health?

In pharmacogenomics, a person's genotype can help predict how they will respond to certain medications. Understanding how genotype and phenotype relate is central to that field.

Can DNA testing show my genotype?

Whole genome sequencing reads 100% of your DNA, so your results show your genotype for your genes. Your phenotype is what you and your doctor observe, so results are best read together with a doctor or pharmacist.

References

This article is for education and is not a substitute for professional medical advice, diagnosis, or treatment. Talk to a qualified healthcare provider about your own health.