Overview

13:g.42395646A>G is a genetic variant associated with Frontal fibrosing alopecia.

This variant is located on chromosome 13. The variations at position 42395646 are the genetic letters 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 13:g.42395646A>G there are 2 currently known genotypes : G/G or A/G

Short Overview

Variant Location

13:g.42395646A>G is located on gene in chromsome 13. Use the genome browser to explore the location of 13:g.42395646A>G and its genetic neighbourhood.

Conditions & Traits

13:g.42395646A>G affects the following conditions and traits:

Pathogenicity

13:g.42395646A>G affects the following conditions:

Pharmacogenetics

13:g.42395646A>G affects the following drugs:

Diagnostics

13:g.42395646A>G 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 . 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 13:g.42395646A>G

The different genotypes of variant 13:g.42395646A>G can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with 13:g.42395646A>G. 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 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

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No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

A

G

Level of evidence

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No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

G

G

Level of evidence

doctor_quote

No Effect

Unisex

0 Sources

Participants: 0

No available data

Genotype

A

G

Level of evidence

doctor_quote

No Effect

Unisex

0 Sources

Participants: 0

No available data

Pharmacogenetics

The genetic variant 13:g.42395646A>G 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 13:g.42395646A>G. 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 13:g.42395646A>G

All drugs that are linked to 13:g.42395646A>G are listed here.

Diagnostics

13:g.42395646A>G 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 13:g.42395646A>G.

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 10507508. 10507508.

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

Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone. (11/18/10)

Lavinia Paternoster, Mattias Lorentzon, Liesbeth Vandenput, Magnus K Karlsson, Osten Ljunggren, Andreas Kindmark, Dan Mellstrom, John P Kemp, Caroline E Jarett, Jeff M P Holly, Adrian Sayers, Beate St Pourcain, Nicholas J Timpson, Panos Deloukas, George Davey Smith, Susan M Ring, David M Evans, Jon H Tobias, Claes Ohlsson

PubMed: 21124946
Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02. (3/8/19)

Christos Tziotzios, Christos Petridis, Nick Dand, Chrysanthi Ainali, Jake R Saklatvala, Venu Pullabhatla, Alexandros Onoufriadis, Rashida Pramanik, David Baudry, Sang Hyuck Lee, Kristie Wood, Lu Liu, Seth Seegobin, Gregory A Michelotti, Su M Lwin, Evangelos A A Christou, Charles J Curtis, Emanuele de Rinaldis, Alka Saxena, Susan Holmes, Matthew Harries, Ioulios Palamaras, Fiona Cunningham, Gregory Parkins, Manjit Kaur, Paul Farrant, Andrew McDonagh, Andrew Messenger, Jennifer Jones, Victoria Jolliffe, Iaisha Ali, Michael Ardern-Jones, Charles Mitchell, Nigel Burrows, Ravinder Atkar, Cedric Banfield, Anton Alexandroff, Caroline Champagne, Hywel L Cooper, Sergio Vañó-Galván, Ana Maria Molina-Ruiz, Nerea Ormaechea Perez, Girish K Patel, Abby Macbeth, Melanie Page, Alyson Bryden, Megan Mowbray, Shyamal Wahie, Keith Armstrong, Nicola Cooke, Mark Goodfield, Irene Man, David de Berker, Giles Dunnill, Anita Takwale, Archana Rao, Tee-Wei Siah, Rodney Sinclair, Martin S Wade, Ncoza C Dlova, Jane Setterfield, Fiona Lewis, Kapil Bhargava, Niall Kirkpatrick, Xavier Estivill, Catherine M Stefanato, Carsten Flohr, Timothy Spector, Fiona M Watt, Catherine H Smith, Jonathan N Barker, David A Fenton, Michael A Simpson, John A McGrath

PubMed: 30850646
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