Genetic variation
rs4921492
This variation affects:
Other names:
Overview
rs4921492 is a genetic variant associated with Sarcoidosis.
This variant is located on chromosome 5. The variations at position 159405269 are the genetic letters A/A, A/C
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 rs4921492 there are 2 currently known genotypes : A/A or A/C
Short Overview
Variant Location
rs4921492 is located on gene in chromsome 5. Use the genome browser to explore the location of rs4921492 and its genetic neighbourhood.
Pharmacogenetics
We do not have any data that links rs4921492 to any drugs.
Diagnostics
rs4921492 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. 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.
Dr. Wallerstorfer
Conditions & Traits of rs4921492
The different genotypes of variant rs4921492 can affect the likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs4921492. 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
Classification of Variants
Variants can be classified either based on clinical tests or scientific studies. In the classification based on clinical tests, the variants are divided into five categories from Disease Causing (harmful) to No Effect (not harmful). This classification is based on family histories, laboratory tests and computer predictions and is intended to help doctors make medical decisions. The aim is to recognize the immediate health impact of variants on the human body. Classification based on scientific studies, however, is about understanding the long-term effects. It aims to identify the influence of genetic variants in conditions, traits, and evolution. Variants are classified into different categories based on their functional impact: Loss-of-Function (reduced gene activity), Gain-of-Function (increased gene activity), Neutral (no significant impact) and Evolutionary Conservation. This classification uses experimental data, population studies, and computational analyses.
Genotype
A
A
Level of evidence
Increased likelihood
Unisex
1 Sources
Participants: 7208
The genotype with the letters A/A is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Genotype
A
C
Level of evidence
Increased likelihood
Unisex
1 Sources
Participants: 7208
The genotype with the letters A/C is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.
Diagnostics
rs4921492 is commonly tested together with other variants on the same gene.
Related variants
Diseases and traits are often influenced by multiple genetic variants. To better understand how genetics affects certain diseases and traits, it is important to consider these additional factors. The following table shows other variants that are also associated with the same diseases and traits as rs4921492.
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 4921492. 4921492.
Studies and Sources
All of the resources below examine variant rs4921492
F. David Carmona, Patrick Coit, Güher Saruhan-Direskeneli, José Hernández-Rodríguez, María C. Cid, Roser Solans, Santos Castañeda, Augusto Vaglio, Haner Direskeneli, Peter A. Merkel, Luigi Boiardi, Carlo Salvarani, Miguel A. González-Gay, Javier Martín, Amr H. Sawalha, Agustín Martínez-Berriochoa, Agustín Martínez-Berriochoa, Ainhoa Unzurrunzaga, Ana Hidalgo-Conde, Ana Belén Madroñero Vuelta, Antonio Fernández-Nebro, M. Carmen Ordóñez-Cañizares, Benjamín Fernández-Gutiérrez, Luis Rodríguez-Rodríguez, Begoña Escalante, Begoña Marí-Alfonso, Bernardo Sopeña, Carmen Gómez-Vaquero, Enrique Raya, Elena Grau, José A. Román, Esther F. Vicente, Eugenio de Miguel, Francisco J. López-Longo, Lina Martínez, Inmaculada C. Morado, J. Bernardino Díaz-López, Luis Caminal-Montero, Aleida Martínez-Zapico, Javier Narváez, Jordi Monfort, Laura Tío, José A. Miranda-Filloy, Julio Sánchez-Martín, Juan J. Alegre-Sancho, Luis Sáez-Comet, Mercedes Pérez-Conesa, Marc Corbera-Bellalta, Marc Ramentol-Sintas, María Jesús García-Villanueva, Mercedes Guijarro Rojas, Norberto Ortego-Centeno, Raquel Ríos Fernández, José Luis Callejas, Olga Sanchez Pernaute, Patricia Fanlo Mateo, Ricardo Blanco, Sergio Prieto-González, Víctor Manuel Martínez-Taboada, Alessandra Soriano, Alessandra Soriano, Claudio Lunardi, Davide Gianfreda, Daniele Santilli, Francesco Bonatti, Francesco Muratore, Giulia Pazzola, Olga Addimanda, Giacomo Emmi, Giuseppe A. Ramirez, Lorenzo Beretta, Marcello Govoni, Marco A. Cimmino, Ahmet Mesut Onat, Ahmet Mesut Onat, Ayse Cefle, Ayten Yazici, Bünyamin Kısacık, Ediz Dalkilic, Emire Seyahi, Izzet Fresko, Ercan Tunc, Eren Erken, Hüseyin TE Ozer, Kenan Aksu, Gokhan Keser, Mehmet A. Ozturk, Muge Bıcakcıgil, Nurşen Duzgun, Omer Karadag, Sedat Kiraz, Ömer N. Pamuk, Servet Akar, Fatos Onen, Nurullah Akkoc, Sevil Kamali, Murat Inanc, Sibel P. Yentür, Sibel Z. Aydin, Fatma Alibaz-Oner, Timuçin Kaşifoğlu, Veli Cobankara, Zeynep Ozbalkan, Askin Ates, Yasar Karaaslan, Simon Carette, Simon Carette, Sharon A. Chung, David Cuthbertson, Lindsay J. Forbess, Gary S. Hoffman, Nader A. Khalidi, Curry L. Koening, Carol A. Langford, Carol A. McAlear, Kathleen McKinnon-Maksimowicz, Paul A. Monach, Larry Moreland, Christian Pagnoux, Philip Seo, Robert Spiera, Antoine G. Sreih, Kenneth J. Warrington, Steven R. Ytterberg
Alain Calender, Thomas Weichhart, Dominique Valeyre, Yves Pacheco
Masaki Takeuchi, Nobuhisa Mizuki, Shigeaki Ohno