Overview

rs1801133 is a genetic variant on gene MTHFR associated with Coronary artery disease and Gastrointestinal stromal tumor.

This variant is located on chromosome 1. The variations at position 11796321 are the genetic letters A/A, C/C, G/G, T/T, A/C, C/G, G/T, A/T, A/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 rs1801133 there are 10 currently known genotypes : A/A, C/C, G/G, T/T, A/C, C/G, G/T, A/T, A/G or C/T

Short Overview

Variant Location

rs1801133 is located on gene MTHFR in chromsome 1. Use the genome browser to explore the location of rs1801133 and its genetic neighbourhood.

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 MTHFR. 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 rs1801133

The different genotypes of variant rs1801133 can affect the likelyhood of developing certain traits or conditions. Current research shows that 4 conditions and 0 traits are associated with rs1801133. 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

4

Genotype

A

A

Level of evidence

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

The genotype with the letters A/A 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

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

The genotype with the letters C/C has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.

Genotype

G

G

Level of evidence

Sources

No effect

Unisex

1 Sources

Participants: 87020

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

T

T

Level of evidence

Sources

Reduced likelihood

Unisex

1 Sources

Participants: 87020

The genotype with the letters T/T is considered protective. Carriers of this genetic result are at reduced risk of developing the disease.

Genotype

A

C

Level of evidence

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

The genotype with the letters A/C 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

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

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

G

T

Level of evidence

Sources

Reduced likelihood

Unisex

1 Sources

Participants: 87020

The genotype with the letters G/T is considered protective. Carriers of this genetic result are at reduced risk of developing the disease.

Genotype

A

T

Level of evidence

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

The genotype with the letters A/T has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.

Genotype

A

G

Level of evidence

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

The genotype with the letters A/G 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

Sources

Unknown effect

Unisex

1 Sources

Participants: 87020

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 rs1801133 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 rs1801133. 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

Individuals with the genotype A/A have increased Side Effects to CAPECITABINE.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

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

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

Legend:

Increased

Decreased

No known effect

Genotype
Level of evidence
Impacts
Summary
AA

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype A/A have increased Side Effects to CISPLATIN.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

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

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have decreased Side Effects to CISPLATIN.

more info

Legend:

Increased

Decreased

No known effect

Genotype
Level of evidence
Impacts
Summary
AA

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype A/A have increased Drug Effect to DISULFIRAM.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype A/G have increased Drug Effect to DISULFIRAM.

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have decreased Drug Effect to DISULFIRAM.

more info

Legend:

Increased

Decreased

No known effect

Genotype
AA
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype A/A have increased Side Effects to CAPECITABINE.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

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

Level of evidence

More info

Genotype
GG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Genotype
AA
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype A/A have increased Side Effects to CISPLATIN.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

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

Level of evidence

More info

Genotype
GG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have decreased Side Effects to CISPLATIN.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Genotype
AA
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype A/A have increased Drug Effect to DISULFIRAM.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype A/G have increased Drug Effect to DISULFIRAM.

Level of evidence

More info

Genotype
GG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have decreased Drug Effect to DISULFIRAM.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Drugs related to rs1801133

All drugs that are linked to rs1801133 are listed here.

Studies and Sources

All of the resources below examine variant rs1801133

Polygenic Risk Score and Risk Factors for Preeclampsia and Gestational Hypertension (11/3/22)

Marija Majda Perišić, Klemo Vladimir, Sarah Karpov, Mario Štorga, Ali Mostashari, Raya Khanin 

PMC: 9694636
PMC: 9697170
Association of Polymorphism of the Methyl Tetrahydrofolate Reductase (MTHFR) Gene with Anti-Seizure Medication Response in Pediatric Patients in Jeddah, Saudi Arabia (11/3/22)

Reem Alyoubi, Abdullah Althomali, Rania Magadmi, Hala S. Abdel kawy, Hadiah Bassam Al Mahdi, Fatemah O. Kamel, Duaa M. Bakhshwin, Maha Jamal, Mohammed Alsieni

PMC: 9698893
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