Overview

rs12133641 is a genetic variant associated with Abdominal aortic aneurysm and Coronary artery disease.

This variant is located on chromosome 1. The variations at position 154455807 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 rs12133641 there are 3 currently known genotypes : A/A, G/G or A/G

Short Overview

Variant Location

rs12133641 is located on gene in chromsome 1. Use the genome browser to explore the location of rs12133641 and its genetic neighbourhood.

Conditions & Traits

rs12133641 affects the following conditions and traits:

Pathogenicity

rs12133641 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs12133641 to any drugs.

Diagnostics

rs12133641 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 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.

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Dr. Wallerstorfer

Conditions & Traits of rs12133641

The different genotypes of variant rs12133641 can affect the likelyhood of developing certain traits or conditions. Current research shows that 3 conditions and 0 traits are associated with rs12133641. 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

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: 104830

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

G

Level of evidence

Increased likelihood

Unisex

1 Sources

Participants: 104830

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

No Effect

Unisex

1 Sources

Participants: 296525

No available data

Genotype

A

G

Level of evidence

No Effect

Unisex

1 Sources

Participants: 296525

No available data

Genotype

G

G

Level of evidence

Increased likelihood

Unisex

1 Sources

Participants: 864982

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

1 Sources

Participants: 864982

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.

Diagnostics

rs12133641 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 rs12133641.

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 12133641. 12133641.

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 rs12133641

Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci. (1/20/17)

Gregory T Jones, Gerard Tromp, Helena Kuivaniemi, Solveig Gretarsdottir, Annette F Baas, Betti Giusti, Ewa Strauss, Femke N G Van't Hof, Thomas R Webb, Robert Erdman, Marylyn D Ritchie, James R Elmore, Anurag Verma, Sarah Pendergrass, Iftikhar J Kullo, Zi Ye, Peggy L Peissig, Omri Gottesman, Shefali S Verma, Jennifer Malinowski, Laura J Rasmussen-Torvik, Kenneth M Borthwick, Diane T Smelser, David R Crosslin, Mariza de Andrade, Evan J Ryer, Catherine A McCarty, Erwin P Böttinger, Jennifer A Pacheco, Dana C Crawford, David S Carrell, Glenn S Gerhard, David P Franklin, David J Carey, Victoria L Phillips, Michael J A Williams, Wenhua Wei, Ross Blair, Andrew A Hill, Thodor M Vasudevan, David R Lewis, Ian A Thomson, Jo Krysa, Geraldine B Hill, Justin Roake, Tony R Merriman, Grzegorz Oszkinis, Silvia Galora, Claudia Saracini, Rosanna Abbate, Raffaele Pulli, Carlo Pratesi, Athanasios Saratzis, Ana R Verissimo, Suzannah Bumpstead, Stephen A Badger, Rachel E Clough, Gillian Cockerill, Hany Hafez, D Julian A Scott, T Simon Futers, Simon P R Romaine, Katherine Bridge, Kathryn J Griffin, Marc A Bailey, Alberto Smith, Matthew M Thompson, Frank M van Bockxmeer, Stefan E Matthiasson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jan D Blankensteijn, Joep A W Teijink, Cisca Wijmenga, Jacqueline de Graaf, Lambertus A Kiemeney, Jes S Lindholt, Anne Hughes, Declan T Bradley, Kathleen Stirrups, Jonathan Golledge, Paul E Norman, Janet T Powell, Steve E Humphries, Stephen E Hamby, Alison H Goodall, Christopher P Nelson, Natzi Sakalihasan, Audrey Courtois, Robert E Ferrell, Per Eriksson, Lasse Folkersen, Anders Franco-Cereceda, John D Eicher, Andrew D Johnson, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E Schadt, Johan L M Björkegren, Leonard Lipovich, Anne M Drolet, Eric L Verhoeven, Clark J Zeebregts, Robert H Geelkerken, Marc R van Sambeek, Steven M van Sterkenburg, Jean-Paul de Vries, Kari Stefansson, John R Thompson, Paul I W de Bakker, Panos Deloukas, Robert D Sayers, Seamus C Harrison, Andre M van Rij, Nilesh J Samani, Matthew J Bown

PubMed: 27899403
GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci. (4/1/17)

Amy V Jones, Mera Tilley, Alex Gutteridge, Craig Hyde, Michael Nagle, Daniel Ziemek, Donal Gorman, Eric B Fauman, Xing Chen, Melissa R Miller, Chao Tian, Youna Hu, David A Hinds, Peter Cox, Serena Scollen

PubMed: 28199695
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