Overview
rs1800012 is a genetic variant associated with Arthrochalasia ehlers-danlos syndrome and Caffey disease.
This variant is located on chromosome 17. The variations at position 50200388 are the genetic letters A/A, C/C, A/C
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 rs1800012 there are 3 currently known genotypes : A/A, C/C or A/C
Short Overview
Variant Location
rs1800012 is located on gene in chromsome 17. Use the genome browser to explore the location of rs1800012 and its genetic neighbourhood.
Conditions & Traits
rs1800012 affects the following conditions and traits:
Pathogenicity
rs1800012 affects the following conditions:
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.
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.
Conditions & Traits of rs1800012
The different genotypes of variant rs1800012 can affect the likelyhood of developing certain traits or conditions. Current research shows that 4 conditions and 0 traits are associated with rs1800012. The following table shows the relationship between genotypes and conditions and traits.
Classification of Variants
Variants can be classified either based on scientific studies or clinical tests. Scientific studies classifications aim to uncover the function of genetic variants and their role in conditions, traits, and evolution. Variants are categorized according to their functional effect, such as loss-of-function (reduced gene activity), gain-of-function (increased gene activity), neutral (no significant impact) or evolutionary conservation. This classification uses experimental data, population studies, and computational analyses to understand the long-term effects of variants. Clinical testing classifications, however, focus on the immediate health impact on the human body, distinguishing five categories from disease causing (harmful) to no effect (not harmful). This classification relies on a mix of family history, lab tests, and computer predictions, aiming to assist doctors in making medical decisions.
Conditions
4Genotype
A
A
Level of evidence
Sources
Likely no effect
Unisex
1 Sources
Participants: 0
The genotype with the letters A/A is thought to have no effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
C
C
Level of evidence
Sources
No effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
A
C
Level of evidence
Sources
Likely no effect
Unisex
1 Sources
Participants: 0
The genotype with the letters A/C is thought to have no effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are usually not at risk of developing the disease.
Pharmacogenetics
The genetic variant rs1800012 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 rs1800012. 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.
Genotype
Level of evidence
Impacts
Summary
Breakdown
Drug Effect
Side Effects
Dosage
No summary available.
more info
Breakdown
Drug Effect
Side Effects
Dosage
No summary available.
more info
Breakdown
Drug Effect
Side Effects
Dosage
No summary available.
more info
Legend:
Increased
Decreased
No known effect
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
Level of evidence
More info
Legend:
Increased
Decreased
No known effect
Drugs related to rs1800012
All drugs that are linked to rs1800012 are listed here.
Studies and Sources
All of the resources below examine variant rs1800012
Maria Elisabetta Onori, Massimo Pasqualetti, Giacomo Moretti, Giulia Canu, Giulio De Paolis, Silvia Baroni, Angelo Minucci, Christel Galvani, Andrea Urbani
Paola Bermudez-Lekerika, Katherine B. Crump, Sofia Tseranidou, Andrea Nüesch, Exarchos Kanelis, Ahmad Alminnawi, Laura Baumgartner, Estefano Muñoz-Moya, Roger Compte, Francesco Gualdi, Leonidas G. Alexopoulos, Liesbet Geris, Karin Wuertz-Kozak, Christine L. Le Maitre, Jérôme Noailly, Benjamin Gantenbein
Md Entaz Bahar, Jin Seok Hwang, Mahmoud Ahmed, Trang Huyen Lai, Trang Minh Pham, Omar Elashkar, Kazi-Marjahan Akter, Dong-Hee Kim, Jinsung Yang, Deok Ryong Kim