Overview

rs78408340 is a genetic variant on gene PAM associated with Diabetes mellitus.

This variant is located on chromosome 5. The variations at position 103003035 are the genetic letters C/C, G/G, C/G, 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 rs78408340 there are 4 currently known genotypes : C/C, G/G, C/G or C/T

Short Overview

Variant Location

rs78408340 is located on gene PAM in chromsome 5. Use the genome browser to explore the location of rs78408340 and its genetic neighbourhood.

Conditions & Traits

rs78408340 affects the following conditions and traits:

Pathogenicity

rs78408340 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs78408340 to any drugs.

Diagnostics

rs78408340 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 PAM. 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.

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Dr. Wallerstorfer

Conditions & Traits of rs78408340

The different genotypes of variant rs78408340 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs78408340. 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

G

G

Level of evidence

No Effect

Unisex

1 Sources

Participants: 455017

No available data

Genotype

C

G

Level of evidence

No Effect

Unisex

1 Sources

Participants: 455017

No available data

Genotype

G

G

Level of evidence

No Effect

Unisex

1 Sources

Participants: 455017

No available data

Genotype

C

G

Level of evidence

No Effect

Unisex

1 Sources

Participants: 455017

No available data

Pharmacogenetics

The genetic variant rs78408340 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 rs78408340. 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 rs78408340

All drugs that are linked to rs78408340 are listed here.

Diagnostics

rs78408340 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 rs78408340.

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 78408340. 78408340.

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

Genomic atlas of the human plasma proteome. (June 2018)

Benjamin B Sun, Joseph C Maranville, James E Peters, David Stacey, James R Staley, James Blackshaw, Stephen Burgess, Tao Jiang, Ellie Paige, Praveen Surendran, Clare Oliver-Williams, Mihir A Kamat, Bram P Prins, Sheri K Wilcox, Erik S Zimmerman, An Chi, Narinder Bansal, Sarah L Spain, Angela M Wood, Nicholas W Morrell, John R Bradley, Nebojsa Janjic, David J Roberts, Willem H Ouwehand, John A Todd, Nicole Soranzo, Karsten Suhre, Dirk S Paul, Caroline S Fox, Robert M Plenge, John Danesh, Heiko Runz, Adam S Butterworth

PubMed: 29875488
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps. (November 2018)

Anubha Mahajan, Daniel Taliun, Matthias Thurner, Neil R Robertson, Jason M Torres, N William Rayner, Anthony J Payne, Valgerdur Steinthorsdottir, Robert A Scott, Niels Grarup, James P Cook, Ellen M Schmidt, Matthias Wuttke, Chloé Sarnowski, Reedik Mägi, Jana Nano, Christian Gieger, Stella Trompet, Cécile Lecoeur, Michael H Preuss, Bram Peter Prins, Xiuqing Guo, Lawrence F Bielak, Jennifer E Below, Donald W Bowden, John Campbell Chambers, Young Jin Kim, Maggie C Y Ng, Lauren E Petty, Xueling Sim, Weihua Zhang, Amanda J Bennett, Jette Bork-Jensen, Chad M Brummett, Mickaël Canouil, Kai-Uwe Ec Kardt, Krista Fischer, Sharon L R Kardia, Florian Kronenberg, Kristi Läll, Ching-Ti Liu, Adam E Locke, Jian'an Luan, Ioanna Ntalla, Vibe Nylander, Sebastian Schönherr, Claudia Schurmann, Loïc Yengo, Erwin P Bottinger, Ivan Brandslund, Cramer Christensen, George Dedoussis, Jose C Florez, Ian Ford, Oscar H Franco, Timothy M Frayling, Vilmantas Giedraitis, Sophie Hackinger, Andrew T Hattersley, Christian Herder, M Arfan Ikram, Martin Ingelsson, Marit E Jørgensen, Torben Jørgensen, Jennifer Kriebel, Johanna Kuusisto, Symen Ligthart, Cecilia M Lindgren, Allan Linneberg, Valeriya Lyssenko, Vasiliki Mamakou, Thomas Meitinger, Karen L Mohlke, Andrew D Morris, Girish Nadkarni, James S Pankow, Annette Peters, Naveed Sattar, Alena Stančáková, Konstantin Strauch, Kent D Taylor, Barbara Thorand, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Jaakko Tuomilehto, Daniel R Witte, Josée Dupuis, Patricia A Peyser, Eleftheria Zeggini, Ruth J F Loos, Philippe Froguel, Erik Ingelsson, Lars Lind, Leif Groop, Markku Laakso, Francis S Collins, J Wouter Jukema, Colin N A Palmer, Harald Grallert, Andres Metspalu, Abbas Dehghan, Anna Köttgen, Goncalo R Abecasis, James B Meigs, Jerome I Rotter, Jonathan Marchini, Oluf Pedersen, Torben Hansen, Claudia Langenberg, Nicholas J Wareham, Kari Stefansson, Anna L Gloyn, Andrew P Morris, Michael Boehnke, Mark I McCarthy

PubMed: 30297969
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