Overview

rs2239815 is a genetic variant associated with Esophageal cancer.

This variant is located on chromosome 22. The variations at position 28796682 are the genetic letters T/T, G/T, A/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 rs2239815 there are 4 currently known genotypes : T/T, G/T, A/T or C/T

Short Overview

Variant Location

rs2239815 is located on gene in chromsome 22. Use the genome browser to explore the location of rs2239815 and its genetic neighbourhood.

Conditions & Traits

rs2239815 affects the following conditions and traits:

Pathogenicity

rs2239815 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs2239815 to any drugs.

Diagnostics

rs2239815 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.

Loading Genome Browser...

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.

doctor_quote

Dr. Wallerstorfer

Conditions & Traits of rs2239815

The different genotypes of variant rs2239815 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs2239815. 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.

doctor_quote

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

T

T

Level of evidence

No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

G

T

Level of evidence

No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

A

T

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

T

T

Level of evidence

No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

G

T

Level of evidence

No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

A

T

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 rs2239815 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 rs2239815. 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 rs2239815

All drugs that are linked to rs2239815 are listed here.

Diagnostics

rs2239815 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 rs2239815.

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 2239815. 2239815.

The Genotype Distribution in the selected area is:
Legend:
Included regions
Excluded regions
no-data

Studies and Sources

All of the resources below examine variant rs

Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. (October 2012)

Chen Wu, Peter Kraft, Kan Zhai, Jiang Chang, Zhaoming Wang, Yun Li, Zhibin Hu, Zhonghu He, Weihua Jia, Christian C Abnet, Liming Liang, Nan Hu, Xiaoping Miao, Yifeng Zhou, Zhihua Liu, Qimin Zhan, Yu Liu, Yan Qiao, Yuling Zhou, Guangfu Jin, Chuanhai Guo, Changdong Lu, Haijun Yang, Jianhua Fu, Dianke Yu, Neal D Freedman, Ti Ding, Wen Tan, Alisa M Goldstein, Tangchun Wu, Hongbing Shen, Yang Ke, Yixin Zeng, Stephen J Chanock, Philip R Taylor, Dongxin Lin

PubMed: 22960999
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. (September 2014)

Chen Wu, Zhaoming Wang, Xin Song, Xiao-Shan Feng, Christian C Abnet, Jie He, Nan Hu, Xian-Bo Zuo, Wen Tan, Qimin Zhan, Zhibin Hu, Zhonghu He, Weihua Jia, Yifeng Zhou, Kai Yu, Xiao-Ou Shu, Jian-Min Yuan, Wei Zheng, Xue-Ke Zhao, She-Gan Gao, Zhi-Qing Yuan, Fu-You Zhou, Zong-Min Fan, Ji-Li Cui, Hong-Li Lin, Xue-Na Han, Bei Li, Xi Chen, Sanford M Dawsey, Linda Liao, Maxwell P Lee, Ti Ding, You-Lin Qiao, Zhihua Liu, Yu Liu, Dianke Yu, Jiang Chang, Lixuan Wei, Yu-Tang Gao, Woon-Puay Koh, Yong-Bing Xiang, Ze-Zhong Tang, Jin-Hu Fan, Jing-Jing Han, Sheng-Li Zhou, Peng Zhang, Dong-Yun Zhang, Yuan Yuan, Ying Huang, Chunling Liu, Kan Zhai, Yan Qiao, Guangfu Jin, Chuanhai Guo, Jianhua Fu, Xiaoping Miao, Changdong Lu, Haijun Yang, Chaoyu Wang, William A Wheeler, Mitchell Gail, Meredith Yeager, Jeff Yuenger, Er-Tao Guo, Ai-Li Li, Wei Zhang, Xue-Min Li, Liang-Dan Sun, Bao-Gen Ma, Yan Li, Sa Tang, Xiu-Qing Peng, Jing Liu, Amy Hutchinson, Kevin Jacobs, Carol Giffen, Laurie Burdette, Joseph F Fraumeni, Hongbing Shen, Yang Ke, Yixin Zeng, Tangchun Wu, Peter Kraft, Charles C Chung, Margaret A Tucker, Zhi-Chao Hou, Ya-Li Liu, Yan-Long Hu, Yu Liu, Li Wang, Guo Yuan, Li-Sha Chen, Xiao Liu, Teng Ma, Hui Meng, Li Sun, Xin-Min Li, Xiu-Min Li, Jian-Wei Ku, Ying-Fa Zhou, Liu-Qin Yang, Zhou Wang, Yin Li, Qirenwang Qige, Wen-Jun Yang, Guang-Yan Lei, Long-Qi Chen, En-Min Li, Ling Yuan, Wen-Bin Yue, Ran Wang, Lu-Wen Wang, Xue-Ping Fan, Fang-Heng Zhu, Wei-Xing Zhao, Yi-Min Mao, Mei Zhang, Guo-Lan Xing, Ji-Lin Li, Min Han, Jing-Li Ren, Bin Liu, Shu-Wei Ren, Qing-Peng Kong, Feng Li, Ilyar Sheyhidin, Wu Wei, Yan-Rui Zhang, Chang-Wei Feng, Jin Wang, Yu-Hua Yang, Hong-Zhang Hao, Qi-De Bao, Bao-Chi Liu, Ai-Qun Wu, Dong Xie, Wan-Cai Yang, Liang Wang, Xiao-Hang Zhao, Shu-Qing Chen, Jun-Yan Hong, Xue-Jun Zhang, Neal D Freedman, Alisa M Goldstein, Dongxin Lin, Philip R Taylor, Li-Dong Wang, Stephen J Chanock

PubMed: 25129146
Association of genetic variants in CHEK2 with oesophageal squamous cell carcinoma in the South African Black population. (2/21/20)

Wenlong C Chen, Hannah Bye, Marco Matejcic, Ariella Amar, Dhiren Govender, Yee Wen Khew, Victoria Beynon, Robyn Kerr, Elvira Singh, Natalie J Prescott, Cathryn M Lewis, Chantal Babb de Villiers, M Iqbal Parker, Christopher G Mathew

PubMed: 30753320
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