Genetic variation
rs7137828
Overview
rs7137828 is a genetic variant on gene ATXN2 associated with Addison's disease and Juvenile idiopathic arthritis.
This variant is located on chromosome 12. The variations at position 111494996 are the genetic letters C/C, T/T, A/C, C/G, 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 rs7137828 there are 5 currently known genotypes : C/C, T/T, A/C, C/G or C/T
Short Overview
Variant Location
rs7137828 is located on gene ATXN2 in chromsome 12. Use the genome browser to explore the location of rs7137828 and its genetic neighbourhood.
Conditions & Traits
rs7137828 affects the following conditions and traits:
Pathogenicity
rs7137828 affects the following conditions:
Pharmacogenetics
We do not have any data that links rs7137828 to any drugs.
Diagnostics
rs7137828 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 rs on gene ATXN2. 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 rs7137828
The different genotypes of variant rs7137828 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 6 conditions and 0 traits are associated with rs7137828. 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 Table Legend
Clinical Testing
Scientific Studies
Biological Male Symbol
Biological Female Symbol
Unisex Symbol for both Genders
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
C
C
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
A
C
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
C
G
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
C
T
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
C
C
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
A
C
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
C
G
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Genotype
C
T
Level of evidence
No Effect
Unisex
0 Sources
Participants: 0
No available data
Pharmacogenetics
The genetic variant rs7137828 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 rs7137828. 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 rs7137828
All drugs that are linked to rs7137828 are listed here.
Diagnostics
rs7137828 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 rs7137828.
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 7137828. 7137828.
Studies and Sources
All of the resources below examine variant rs
Timothy HT Cheng, Deborah Thompson, Jodie Painter, Tracy O’Mara, Maggie Gorman, Lynn Martin, Claire Palles, Angela Jones, Daniel D. Buchanan, Aung Ko Win, John Hopper, Mark Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Graham G Giles, Paul Pharoah, Julian Peto, Angela Cox, Anthony Swerdlow, Fergus Couch, Julie M Cunningham, Ellen L Goode, Stacey J Winham, Diether Lambrechts, Peter Fasching, Barbara Burwinkel, Hermann Brenner, Hiltrud Brauch, Jenny Chang-Claude, Helga B. Salvesen, Vessela Kristensen, Hatef Darabi, Jingmei Li, Tao Liu, Annika Lindblom, Per Hall, Magdalena Echeverry de Polanco, Monica Sans, Angel Carracedo, Sergi Castellvi-Bel, Augusto Rojas-Martinez, Samuel Aguiar Jnr, Manuel R. Teixeira, Alison M Dunning, Joe Dennis, Geoffrey Otton, Tony Proietto, Elizabeth Holliday, John Attia, Katie Ashton, Rodney J Scott, Mark McEvoy, Sean C Dowdy, Brooke L Fridley, Henrica MJ Werner, Jone Trovik, Tormund S Njolstad, Emma Tham, Miriam Mints, Ingo Runnebaum, Peter Hillemanns, Thilo Dörk, Frederic Amant, Stefanie Schrauwen, Alexander Hein, Matthias W Beckmann, Arif Ekici, Kamila Czene, Alfons Meindl, Manjeet K Bolla, Kyriaki Michailidou, Jonathan P Tyrer, Qin Wang, Shahana Ahmed, Catherine S Healey, Mitul Shah, Daniela Annibali, Jeroen Depreeuw, Nada A. Al-Tassan, Rebecca Harris, Brian F. Meyer, Nicola Whiffin, Fay J Hosking, Ben Kinnersley, Susan M. Farrington, Maria Timofeeva, Albert Tenesa, Harry Campbell, Robert W. Haile, Shirley Hodgson, Luis Carvajal-Carmona, Jeremy P. Cheadle, Douglas Easton, Malcolm Dunlop, Richard Houlston, Amanda Spurdle, Ian Tomlinson
Fredrick R. Schumacher, Stephanie L. Schmit, Shuo Jiao, Christopher K. Edlund, Hansong Wang, Ben Zhang, Li Hsu, Shu-Chen Huang, Christopher P. Fischer, John F. Harju, Gregory E. Idos, Flavio Lejbkowicz, Frank J. Manion, Kevin McDonnell, Caroline E. McNeil, Marilena Melas, Hedy S. Rennert, Wei Shi, Duncan C. Thomas, David J. Van Den Berg, Carolyn M. Hutter, Aaron K. Aragaki, Katja Butterbach, Bette J. Caan, Christopher S. Carlson, Stephen J. Chanock, Keith R. Curtis, Charles S. Fuchs, Manish Gala, Edward L. Giovannucci, Stephanie M. Gogarten, Richard B. Hayes, Brian Henderson, David J. Hunter, Rebecca D. Jackson, Laurence N. Kolonel, Charles Kooperberg, Sébastien Küry, Andrea LaCroix, Cathy C. Laurie, Cecelia A. Laurie, Mathieu Lemire, David Levine, Jing Ma, Karen W. Makar, Conghui Qu, Darin Taverna, Cornelia M. Ulrich, Kana Wu, Suminori Kono, Dee W. West, Sonja I. Berndt, Stéphane Bezieau, Hermann Brenner, Peter T. Campbell, Andrew T. Chan, Jenny Chang-Claude, Gerhard A. Coetzee, David V. Conti, David Duggan, Jane C. Figueiredo, Barbara K. Fortini, Steven J. Gallinger, W. James Gauderman, Graham Giles, Roger Green, Robert Haile, Tabitha A. Harrison, Michael Hoffmeister, John L. Hopper, Thomas J. Hudson, Eric Jacobs, Motoki Iwasaki, Sun Ha Jee, Mark Jenkins, Wei-Hua Jia, Amit Joshi, Li Li, Noralene M. Lindor, Keitaro Matsuo, Victor Moreno, Bhramar Mukherjee, Polly A. Newcomb, John D. Potter, Leon Raskin, Gad Rennert, Stephanie Rosse, Gianluca Severi, Robert E. Schoen, Daniela Seminara, Xiao-Ou Shu, Martha L. Slattery, Shoichiro Tsugane, Emily White, Yong-Bing Xiang, Brent W. Zanke, Wei Zheng, Loic Le Marchand, Graham Casey, Stephen B. Gruber, Ulrike Peters