Overview

rs2293370 is a genetic variant on gene TIMMDC1 associated with Primary biliary cholangitis and Multiple sclerosis.

This variant is located on chromosome 3. The variations at position 119501087 are the genetic letters A/A, G/G, A/G

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 rs2293370 there are 3 currently known genotypes : A/A, G/G or A/G

Short Overview

Variant Location

rs2293370 is located on gene TIMMDC1 in chromsome 3. Use the genome browser to explore the location of rs2293370 and its genetic neighbourhood.

Conditions & Traits

rs2293370 affects the following conditions and traits:

Pathogenicity

rs2293370 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs2293370 to any drugs.

Diagnostics

rs2293370 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 TIMMDC1. 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 rs2293370

The different genotypes of variant rs2293370 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 2 conditions and 0 traits are associated with rs2293370. 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

A

A

Level of evidence

Increased likelihood

Unisex

2 Sources

Participants: 34862

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

G

G

Level of evidence

Increased likelihood

Unisex

1 Sources

Participants: 13239

The genotype with the letters G/G is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.

Genotype

A

G

Level of evidence

Increased likelihood

Unisex

4 Sources

Participants: 50987

The genotype with the letters A/G is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.

Genotype

A

A

Level of evidence

Increased likelihood

Unisex

2 Sources

Participants: 34862

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

G

G

Level of evidence

Increased likelihood

Unisex

1 Sources

Participants: 13239

The genotype with the letters G/G is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.

Genotype

A

G

Level of evidence

Increased likelihood

Unisex

4 Sources

Participants: 50987

The genotype with the letters A/G 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 rs2293370 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 rs2293370. 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 rs2293370

All drugs that are linked to rs2293370 are listed here.

Diagnostics

rs2293370 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 rs2293370.

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 2293370. 2293370.

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

Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis (3/21/15)

Maria Arismendi, Matthieu Giraud, Nadira Ruzehaji, Philippe Dieudé, Eugenie Koumakis, Barbara Ruiz, Paolo Airo, Daniele Cusi, Marco Matucci-Cerinic, Erika Salvi, Giovanna Cuomo, Eric Hachulla, Elisabeth Diot, Paola Caramaschi, Valeria Riccieri, Jérôme Avouac, Cristiane Kayser, Yannick Allanore

PMC: 4422604
Combinations of Susceptibility Genes Are Associated with Higher Risk for Multiple Sclerosis and Imply Disease Course Specificity (5/26/15)

Denis A. Akkad, Alexandra Olischewsky, Franziska Reiner, Kerstin Hellwig, Sarika Esser, Jörg T. Epplen, Tomaz Curk, Ralf Gold, Aiden Haghikia

PMC: 4444291
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