Overview

rs11479 is a genetic variant on gene TYMP associated with Spinal muscular atrophy.

This variant is located on chromosome 22. The variations at position 50525807 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 rs11479 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

rs11479 is located on gene TYMP in chromsome 22. Use the genome browser to explore the location of rs11479 and its genetic neighbourhood.

Conditions & Traits

rs11479 affects the following conditions and traits:

Pathogenicity

rs11479 affects the following conditions:

Pharmacogenetics

rs11479 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 TYMP. 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 rs11479

The different genotypes of variant rs11479 can affect the likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with rs11479. 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

1 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

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

Sources

No effect

Unisex

1 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 rs11479 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 rs11479. 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 Dosage and increased Side Effects to CAPECITABINE.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

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

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

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

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 Dosage and increased Side Effects to FLUOROURACIL.

more info

AG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype A/G have increased Dosage and increased Side Effects to FLUOROURACIL.

more info

GG

Breakdown

Drug Effect

Side Effects

Dosage

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

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 Dosage and 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 Dosage and increased Side Effects to CAPECITABINE.

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 CAPECITABINE.

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 Dosage and increased Side Effects to FLUOROURACIL.

Level of evidence

More info

Genotype
AG
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype A/G have increased Dosage and increased Side Effects to FLUOROURACIL.

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 FLUOROURACIL.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Drugs related to rs11479

All drugs that are linked to rs11479 are listed here.

Studies and Sources

All of the resources below examine variant rs11479

Evaluating Predictive Pharmacogenetic Signatures of Adverse Events in Colorectal Cancer Patients Treated with Fluoropyrimidines

Barbara A. Jennings, Yoon K. Loke, Jane Skinner, Melanie Keane, Gavin S. Chu, Richard Turner, Daniel Epurescu, Ann Barrett, Gavin Willis

PMC: 3805522
Thymidine phosphorylase gene variant, platelet counts and survival in gastrointestinal cancer patients treated by fluoropyrimidines (7/16/14)

Liu Huang, Fengju Chen, Yangyang Chen, Xiaomei Yang, Sanpeng Xu, Shuwang Ge, Shengling Fu, Tengfei Chao, Qianqian Yu, Xin Liao, Guangyuan Hu, Peng Zhang, Xianglin Yuan

PMC: 4100023
Potentially Functional SNPs (pfSNPs) as Novel Genomic Predictors of 5-FU Response in Metastatic Colorectal Cancer Patients

Jingbo Wang, Xu Wang, Mingjue Zhao, Su Pin Choo, Sin Jen Ong, Simon Y. K. Ong, Samuel S. Chong, Yik Ying Teo, Caroline G. L. Lee

PMC: 4221105
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