Overview
rs4818 is a genetic variant on gene COMT associated with Spondyloepiphyseal dysplasia.
This variant is located on chromosome 22. The variations at position 19963684 are the genetic letters C/C, G/G, C/G
Since humans have each twice (one from each parent), these letter-variations occur on both chromosomes. People can have the same or different letters on both chromosomes. Every person's individual variation combination is referred to as genotype. For variant rs4818 there are 3 currently known genotypes : C/C, G/G or C/G
Short Overview
Variant Location
rs4818 is located on gene COMT in chromsome 22. Use the genome browser to explore the location of rs4818 and its genetic neighbourhood.
Genome Browser
This interactive browser visualizes what no human can see with the naked eye - our DNA. From a down to a specific position on a . The position you are looking at here is the exact location of variant rs on gene COMT. Explore more variants and their effects on the body by browsing left and right along the DNA strand.
Did you know genetic variants affect drugs?
Mutations are changes in genes and genetic variations are differences in the DNA among people. Variants are tiny changes in just one piece of the DNA while haplotypes are groups of these changes that usually come together.
Conditions & Traits of rs4818
The different genotypes of variant rs4818 can affect the likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs4818. The following table shows the relationship between genotypes and conditions and traits.
Classification of Variants
Variants can be classified either based on scientific studies or clinical tests. Scientific studies classifications aim to uncover the function of genetic variants and their role in conditions, traits, and evolution. Variants are categorized according to their functional effect, such as loss-of-function (reduced gene activity), gain-of-function (increased gene activity), neutral (no significant impact) or evolutionary conservation. This classification uses experimental data, population studies, and computational analyses to understand the long-term effects of variants. Clinical testing classifications, however, focus on the immediate health impact on the human body, distinguishing five categories from disease causing (harmful) to no effect (not harmful). This classification relies on a mix of family history, lab tests, and computer predictions, aiming to assist doctors in making medical decisions.
Condition
1Genotype
C
C
Level of evidence
Sources
No effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
G
G
Level of evidence
Sources
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
C
G
Level of evidence
Sources
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/G has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Pharmacogenetics
The genetic variant rs4818 impacts how certain medications work in the body. This difference may cause some of us to require different dosage amounts to achieve the desired effects, while others might experience more apparent side-effects. As a result, healthcare providers may need to adjust prescriptions for those individuals with rs4818. Ultimately, understanding our genetic makeup helps improve the overall effectiveness and usability of medications. Tailoring treatments based on genetics ensures a safer, more personalized healthcare experience.
Genotype
Level of evidence
Impacts
Summary
Breakdown
Drug Effect
Side Effects
Dosage
Individuals with the genotype C/C have decreased Drug Effect to RISPERIDONE.
more info
Breakdown
Drug Effect
Side Effects
Dosage
Individuals with the genotype C/G have increased Drug Effect to RISPERIDONE.
more info
Breakdown
Drug Effect
Side Effects
Dosage
No summary available.
more info
Legend:
Increased
Decreased
No known effect
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype C/C have decreased Drug Effect to RISPERIDONE.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype C/G have increased Drug Effect to RISPERIDONE.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
Level of evidence
More info
Legend:
Increased
Decreased
No known effect
Drugs related to rs4818
All drugs that are linked to rs4818 are listed here.
Studies and Sources
All of the resources below examine variant rs4818
Julia W. Haas, Giulio Ongaro, Eric Jacobson, Lisa A. Conboy, Judy Nee, Johanna Iturrino, Vikram Rangan, Anthony Lembo, Ted J. Kaptchuk, Sarah Ballou
Tuana Kant, Emiko Koyama, Clement C. Zai, Joseph H. Beitchman, James L. Kennedy
Yvonne Gloor, Christoph Czarnetzki, François Curtin, Béatrice Gil-Wey, Martin R. Tramèr, Jules A. Desmeules