Overview
rs2228075 is a genetic variant on gene IMPDH1 associated with Inherited retinal disorder and Leber congenital amaurosis 11.
This variant is located on chromosome 7. The variations at position 128394575 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 rs2228075 there are 3 currently known genotypes : C/C, T/T or C/T
Short Overview
Variant Location
rs2228075 is located on gene IMPDH1 in chromsome 7. Use the genome browser to explore the location of rs2228075 and its genetic neighbourhood.
Conditions & Traits
rs2228075 affects the following conditions and traits:
Pathogenicity
rs2228075 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 IMPDH1. 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 rs2228075
The different genotypes of variant rs2228075 can affect the likelyhood of developing certain traits or conditions. Current research shows that 3 conditions and 0 traits are associated with rs2228075. 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
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
T
T
Level of evidence
Sources
No effect
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T 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
C
T
Level of evidence
Sources
No effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Pharmacogenetics
The genetic variant rs2228075 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 rs2228075. 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
Individuals with the genotype T/T have increased Side Effects to MYCOPHENOLATE MOFETIL.
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
Individuals with the genotype T/T have increased Side Effects to MYCOPHENOLATE MOFETIL.
Level of evidence
More info
Legend:
Increased
Decreased
No known effect