Overview

rs4986790 is a genetic variant on gene TLR4 associated with Spondyloepiphyseal dysplasia.

This variant is located on chromosome 9. The variations at position 117713024 are the genetic letters A/A, G/G, T/T, G/T, A/T, 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 rs4986790 there are 6 currently known genotypes : A/A, G/G, T/T, G/T, A/T or A/G

Short Overview

Variant Location

rs4986790 is located on gene TLR4 in chromsome 9. Use the genome browser to explore the location of rs4986790 and its genetic neighbourhood.

Conditions & Traits

rs4986790 affects the following conditions and traits:

Pathogenicity

rs4986790 affects the following conditions:

Pharmacogenetics

rs4986790 affects the following 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 TLR4. 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 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 Dr. Wallerstorfer

Conditions & Traits of rs4986790

The different genotypes of variant rs4986790 can affect the likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs4986790. 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.

Condition

1

Genotype

A

A

Level of evidence

Sources

No effect

Unisex

2 Sources

Participants: 0

The genotype with the letters A/A 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

No effect

Unisex

2 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

Sources

No effect

Unisex

2 Sources

Participants: 0

The genotype with the letters A/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.

Pharmacogenetics

The genetic variant rs4986790 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 rs4986790. 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
AA

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have increased Side Effects to FOLIC ACID.

more info

Legend:

Increased

Decreased

No known effect

Genotype
Level of evidence
Impacts
Summary
AA

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have increased Side Effects to METHOTREXATE.

more info

Legend:

Increased

Decreased

No known effect

Genotype
AA
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
GG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have increased Side Effects to FOLIC ACID.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Genotype
AA
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
GG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have increased Side Effects to METHOTREXATE.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Drugs related to rs4986790

All drugs that are linked to rs4986790 are listed here.

Studies and Sources

All of the resources below examine variant rs4986790

Association of TGFB1 rs1800469 and BCMO1 rs6564851 with coronary heart disease and IL1B rs16944 with all-cause mortality in men from the Northern Ireland PRIME study (8/22/22)

Rachel E. Mooney, Gerry J. Linden, Lewis Winning, Katie Linden, Frank Kee, Pascal P. McKeown, Jayne V. Woodside, Christopher C. Patterson, Gareth J. McKay

PMC: 9394803
Single Nucleotide Polymorphisms of Toll-like Receptor 4 in Hepatocellular Carcinoma—A Single-Center Study (8/21/22)

Theodoros Androutsakos, Athanasios-Dimitrios Bakasis, Abraham Pouliakis, Maria Gazouli, Christos Vallilas, Gregorios Hatzis

PMC: 9409058
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