Genetic variation
17:g.39820216C>T
This variation affects:
Overview
17:g.39820216C>T is a genetic variant on gene IKZF3 associated with Primary biliary cholangitis.
This variant is located on chromosome 17. The variations at position 39820216 are the genetic letters T/T, C/T
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 17:g.39820216C>T there are 2 currently known genotypes : T/T or C/T
Short Overview
Variant Location
17:g.39820216C>T is located on gene IKZF3 in chromsome 17. Use the genome browser to explore the location of 17:g.39820216C>T and its genetic neighbourhood.
Conditions & Traits
17:g.39820216C>T affects the following conditions and traits:
Pharmacogenetics
17:g.39820216C>T affects the following drugs:
Diagnostics
17:g.39820216C>T is commonly tested together with other variants on the same gene.
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 on gene IKZF3. 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 random changes in the DNA 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.
Dr. Wallerstorfer
Conditions & Traits of 17:g.39820216C>T
The different genotypes of variant 17:g.39820216C>T can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with 17:g.39820216C>T. The following table shows the relationship between genotypes and conditions and traits.
Did you know genetic variants affect drugs?
Genetic variants can influence how our body reacts to certain drugs. The presence of specific genetic variants can increase or decrease the efficiency and effectiveness of a drug, impacting how well it works inside our system. Additionally, certain genetic variants can heighten or lessen the toxicity of a drug, thereby affecting the risk of unwanted side effects. They can also alter how a drug is metabolized, which influences the appropriate dosage one should receive.
Dr. Wallerstorfer
Variant Classification based on Scientific Studies
Scientific studies classifications aim to uncover how genetic variants function and their roles in diseases, traits, and evolution. Variants are categorized based on their functional impact, such as loss-of-function (reduces gene activity), gain-of-function (increases gene activity), neutral (no significant impact), or evolutionary conservation. This classification uses experimental data, population studies, and computational analyses to understand variant effects. Unlike clinical testing, which focuses on immediate health impacts, scientific studies explore broader genetic mechanisms and long-term implications.
Genotype
T
T
Level of evidence
Increased likelihood
Unisex
3 Sources
Participants: 17088
The genotype with the letters T/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Genotype
C
T
Level of evidence
Increased likelihood
Unisex
3 Sources
Participants: 17088
The genotype with the letters C/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Genotype
T
T
Level of evidence
Increased likelihood
Unisex
3 Sources
Participants: 17088
The genotype with the letters T/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Genotype
C
T
Level of evidence
Increased likelihood
Unisex
3 Sources
Participants: 17088
The genotype with the letters C/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Pharmacogenetics
The genetic variant 17:g.39820216C>T 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 17:g.39820216C>T. 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.
Drugs related to 17:g.39820216C>T
All drugs that are linked to 17:g.39820216C>T are listed here.
Diagnostics
17:g.39820216C>T is commonly tested together with other variants on the same gene.
Related variants
Conditions and traits are often affected by more than one variant. It is important to understand these other factors to get a better understanding of how genetics affect certain conditions and traits. The following grid shows other variants that affect the same conditions and traits as 17:g.39820216C>T.
Genotype Distribution
Knowing your genome can actually tell you a lot about your ancestors.
The prevalence of the different genotypes is based on the native inhabitants of a region. In the map below you see how common each genotype is in the native inhabitants of those regions. Since genetic material is passed down form generation to generation, your DNA shows traces of the geographical origins of your ancestors.
This data is based on “The 1000 Genomes Project” which established one of the most detailed overviews of human genetic variations across the globe. The regions are broadly categorized into five continental groups: Africa, America, Europe, South Asia and East Asia. All continental groups together display the global prevalence. Click through the regions, to learn more about the local prevalence of the possible genotypes.
At present, there is no distribution data available for SNP 9303277. 9303277.
Studies and Sources
All of the resources below examine variant
Agnieszka Paziewska, Andrzej Habior, Agnieszka Rogowska, Włodzimierz Zych, Krzysztof Goryca, Jakub Karczmarski, Michalina Dabrowska, Filip Ambrozkiewicz, Bozena Walewska-Zielecka, Marek Krawczyk, Halina Cichoz-Lach, Piotr Milkiewicz, Agnieszka Kowalik, Krzysztof Mucha, Joanna Raczynska, Joanna Musialik, Grzegorz Boryczka, Michal Wasilewicz, Irena Ciecko-Michalska, Malgorzata Ferenc, Maria Janiak, Alina Kanikowska, Rafal Stankiewicz, Marek Hartleb, Tomasz Mach, Marian Grzymislawski, Joanna Raszeja-Wyszomirska, Ewa Wunsch, Tomasz Bobinski, Michal Mikula, Jerzy Ostrowski
Yuki Hitomi, Kaname Kojima, Minae Kawashima, Yosuke Kawai, Nao Nishida, Yoshihiro Aiba, Michio Yasunami, Masao Nagasaki, Minoru Nakamura, Katsushi Tokunaga
Lyle G. Best, Crystal Azure, Alexandre Segarra, Kendra J. Enright, Shawn Hamley, Dara Jerome, Marcia A. O’Leary, Rae A. O’Leary, Ashley Parisien, Kayana Trottier, Joseph M. Yracheta, Dara G. Torgerson