Overview

rs11583680 is a genetic variant on gene PCSK9 associated with Familial hypercholesterolemia and Hypobetalipoproteinemia.

This variant is located on chromosome 1. The variations at position 55039995 are the genetic letters 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 rs11583680 there are 2 currently known genotypes : T/T or C/T

Short Overview

Variant Location

rs11583680 is located on gene PCSK9 in chromsome 1. Use the genome browser to explore the location of rs11583680 and its genetic neighbourhood.

Conditions & Traits

rs11583680 affects the following conditions and traits:

Pathogenicity

rs11583680 affects the following conditions:

Pharmacogenetics

We do not have any data that links rs11583680 to any drugs.

Diagnostics

rs11583680 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 PCSK9. Explore more variants and their effects on the body by browsing left and right along the DNA strand.

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Did you know genetic variants affect drugs?

Mutations are random changes in the DNA 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.

doctor_quote

Dr. Wallerstorfer

Conditions & Traits of rs11583680

The different genotypes of variant rs11583680 can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 2 conditions and 0 traits are associated with rs11583680. 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.

doctor_quote

Dr. Wallerstorfer

Variant Classification based on Clinical Testing

Clinical testing classifications are designed to help doctors understand how genetic changes, known as variants, might affect a person’s health and guide medical decisions. Variants are labeled as Disease Causing (harmful), likely Disease Causing, Unknown Effect (unknown impact), Likely No Effect (likely not harmful), and No Effect (not harmful). This classification relies on a mix of family history, lab tests, and computer predictions to determine the impact of variants.

Variants can have different effects based on their location. Variants on the X chromosome often impact males more because they have only one X chromosome, while females have two. This influences the classification (effect) of the variant.

Variant Table Legend

Clinical Testing

Scientific Studies

Biological Male Symbol

Biological Female Symbol

Unisex Symbol for both Genders

Genotype

C

C

Level of evidence

No Effect

Unisex

2 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

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

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

Unknown effect

Unisex

1 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

Unknown effect

Unisex

1 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.

Genotype

C

C

Level of evidence

No Effect

Unisex

2 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

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

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

Unknown effect

Unisex

1 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

Unknown effect

Unisex

1 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 rs11583680 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 rs11583680. 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.

Drugs related to rs11583680

All drugs that are linked to rs11583680 are listed here.

Diagnostics

rs11583680 is commonly tested together with other variants on the same gene.

Related variants

Conditions and traits are often affected by more than one variant. It is important to understand these other factors to get a better understanding of how genetics affect certain conditions and traits. The following grid shows other variants that affect the same conditions and traits as rs11583680.

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 11583680. 11583680.

The Genotype Distribution in the selected area is:
Legend:
Included regions
Excluded regions
no-data

Studies and Sources

All of the resources below examine variant rs

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes (8/8/19)

María Carmen Barboza‐Cerda, Oralia Barboza‐Quintana, Gerardo Martínez‐Aldape, Raquel Garza‐Guajardo, Miguel Angel Déctor

PMC: 6732292
Susceptibility of ApoB and PCSK9 Genetic Polymorphisms to Diabetic Kidney Disease Among Chinese Diabetic Patients (4/6/21)

Liang Ma, Shaoting Wang, Hailing Zhao, Meijie Yu, Xiangling Deng, Yongwei Jiang, Yongtong Cao, Ping Li, Wenquan Niu

PMC: 8055819
Polymorphisms of rs2483205 and rs562556 in the PCSK9 gene are associated with coronary artery disease and cardiovascular risk factors (6/1/21)

Min-Tao Gai, Dilare Adi, Xiao-Cui Chen, Fen Liu, Xiang Xie, Yi-Ning Yang, Xiao-Ming Gao, Xiang Ma, Zhen-Yan Fu, Yi-Tong Ma, Bang-dang Chen

PMC: 8169929
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