Overview
rs186983396 is a genetic variant on gene RYR1 associated with Central core disease and Congenital multicore myopathy with external ophthalmoplegia.
This variant is located on chromosome 19. The variations at position 38442434 are the genetic letters C/C, T/T, 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 rs186983396 there are 3 currently known genotypes : C/C, T/T or C/T
Short Overview
Variant Location
rs186983396 is located on gene RYR1 in chromsome 19. Use the genome browser to explore the location of rs186983396 and its genetic neighbourhood.
Conditions & Traits
rs186983396 affects the following conditions and traits:
Pathogenicity
rs186983396 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 on gene RYR1. 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 rs186983396
The different genotypes of variant rs186983396 can affect the likelyhood of developing certain traits or conditions. Current research shows that 3 conditions and 0 traits are associated with rs186983396. 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
3Genotype
C
C
Level of evidence
Sources
No effect
Unisex
4 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
G
G
Level of evidence
Sources
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
C
G
Level of evidence
Sources
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/G has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
T
T
Level of evidence
Sources
Unknown effect
Unisex
3 Sources
Participants: 0
The genotype with the letters T/T has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
C
T
Level of evidence
Sources
Unknown effect
Unisex
3 Sources
Participants: 0
The genotype with the letters C/T has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Pharmacogenetics
The genetic variant rs186983396 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 rs186983396. 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
Individuals with the genotype C/C have decreased Drug Effect to CAFFEINE.
more info
Breakdown
Drug Effect
Side Effects
Dosage
Individuals with the genotype C/T have increased Drug Effect to CAFFEINE.
more info
Breakdown
Drug Effect
Side Effects
Dosage
Individuals with the genotype T/T have increased Drug Effect to CAFFEINE.
more info
Legend:
Increased
Decreased
No known effect
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype C/C have decreased Drug Effect to CAFFEINE.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype C/T have increased Drug Effect to CAFFEINE.
Level of evidence
More info
Genotype
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype T/T have increased Drug Effect to CAFFEINE.
Level of evidence
More info
Legend:
Increased
Decreased
No known effect