Overview
rs104894226 is a genetic variant on gene HRAS associated with Costello syndrome and Epidermal nevus.
This variant is located on chromosome 11. The variations at position 534285 are the genetic letters A/A, C/C, G/G, T/T, A/C, 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 rs104894226 there are 7 currently known genotypes : A/A, C/C, G/G, T/T, A/C, C/G or C/T
Short Overview
Variant Location
rs104894226 is located on gene HRAS in chromsome 11. Use the genome browser to explore the location of rs104894226 and its genetic neighbourhood.
Conditions & Traits
rs104894226 affects the following conditions and traits:
Pathogenicity
rs104894226 affects the following conditions:
Pharmacogenetics
We do not have any data that links rs104894226 to any drugs.
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 HRAS. 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 rs104894226
The different genotypes of variant rs104894226 can affect the likelyhood of developing certain traits or conditions. Current research shows that 7 conditions and 0 traits are associated with rs104894226. 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
7Genotype
A
A
Level of evidence
Sources
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/A is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
C
Level of evidence
Sources
No effect
Unisex
3 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
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/C is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
T
T
Level of evidence
Sources
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters T/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
T
Level of evidence
Sources
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters C/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.