Overview

rs3853818 is a genetic variant associated with Moyamoya disease.

This variant is located on chromosome 17. The variations at position 7442983 are the genetic letters C/C, 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 rs3853818 there are 2 currently known genotypes : C/C or C/T

Short Overview

Variant Location

rs3853818 is located on gene in chromsome 17. Use the genome browser to explore the location of rs3853818 and its genetic neighbourhood.

Conditions & Traits

rs3853818 affects the following conditions and traits:

Pathogenicity

rs3853818 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs3853818 to any drugs.

Diagnostics

rs3853818 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.

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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.

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Dr. Wallerstorfer

Conditions & Traits of rs3853818

The different genotypes of variant rs3853818 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs3853818. 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

C

C

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

C

T

Level of evidence

No Effect

Unisex

0 Sources

Participants: 0

No available data

Pharmacogenetics

The genetic variant rs3853818 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 rs3853818. 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 rs3853818

All drugs that are linked to rs3853818 are listed here.

Diagnostics

rs3853818 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 rs3853818.

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 3853818. 3853818.

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 study identifies novel susceptibilities to adult moyamoya disease. (October 2023)

Jin Pyeong Jeon, Eun Pyo Hong, Eun Jin Ha, Bong Jun Kim, Dong Hyuk Youn, Sungyoung Lee, Hee Chang Lee, Kang Min Kim, Sung Ho Lee, Won-Sang Cho, Hyun-Seung Kang, Jeong Eun Kim

PubMed: 37365321
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