Genetic variation
rs267607213
This variation affects:
Other names:
Overview
rs267607213 is a genetic variant on gene LDLR associated with Familial hypercholesterolemia and Homozygous familial hypercholesterolemia.
This variant is located on chromosome 19. The variations at position 11100286 are the genetic letters A/A, 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 rs267607213 there are 3 currently known genotypes : A/A, G/G or A/G
Short Overview
Variant Location
rs267607213 is located on gene LDLR in chromsome 19. Use the genome browser to explore the location of rs267607213 and its genetic neighbourhood.
Conditions & Traits
rs267607213 affects the following conditions and traits:
Pathogenicity
rs267607213 affects the following conditions:
Pharmacogenetics
We do not have any data that links rs267607213 to any drugs.
Diagnostics
rs267607213 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 rs on gene LDLR. 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.
Dr. Wallerstorfer
Conditions & Traits of rs267607213
The different genotypes of variant rs267607213 can affect the likelyhood of developing certain traits or conditions. Current research shows that 2 conditions and 0 traits are associated with rs267607213. 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.
Dr. Wallerstorfer
Variant Table Legend
Clinical Testing
Scientific Studies
Biological Male Symbol
Biological Female Symbol
Unisex Symbol for both Genders
Classification of Variants
Variants can be classified either based on clinical tests or scientific studies. In the classification based on clinical tests, the variants are divided into five categories from Disease Causing (harmful) to No Effect (not harmful). This classification is based on family histories, laboratory tests and computer predictions and is intended to help doctors make medical decisions. The aim is to recognize the immediate health impact of variants on the human body. Classification based on scientific studies, however, is about understanding the long-term effects. It aims to identify the influence of genetic variants in conditions, traits, and evolution. Variants are classified into different categories based on their functional impact: Loss-of-Function (reduced gene activity), Gain-of-Function (increased gene activity), Neutral (no significant impact) and Evolutionary Conservation. This classification uses experimental data, population studies, and computational analyses.
Genotype
A
A
Level of evidence
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
G
G
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G 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
G
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/G is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
A
A
Level of evidence
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
G
G
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G 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
G
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters A/G is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Diagnostics
rs267607213 is commonly tested together with other variants on the same gene.
Related variants
Diseases and traits are often influenced by multiple genetic variants. To better understand how genetics affects certain diseases and traits, it is important to consider these additional factors. The following table shows other variants that are also associated with the same diseases and traits as rs267607213.
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 267607213. 267607213.