Overview

rs5443 is a genetic variant on gene GNB3 associated with Congenital stationary night blindness 1h and Spondyloepiphyseal dysplasia.

This variant is located on chromosome 12. The variations at position 6845711 are the genetic letters C/C, 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 rs5443 there are 3 currently known genotypes : C/C, T/T or C/T

Short Overview

Variant Location

rs5443 is located on gene GNB3 in chromsome 12. Use the genome browser to explore the location of rs5443 and its genetic neighbourhood.

Conditions & Traits

rs5443 affects the following conditions and traits:

Pathogenicity

rs5443 affects the following conditions:

Pharmacogenetics

rs5443 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 GNB3. 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 rs5443

The different genotypes of variant rs5443 can affect the likelyhood of developing certain traits or conditions. Current research shows that 2 conditions and 0 traits are associated with rs5443. 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

2

Genotype

C

C

Level of evidence

Sources

No effect

Unisex

3 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

T

T

Level of evidence

Sources

Increased likelihood

Unisex

3 Sources

Participants: 0

The genotype with the letters T/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.

Genotype

C

T

Level of evidence

Sources

Increased likelihood

Unisex

3 Sources

Participants: 0

The genotype with the letters C/T is considered a risk factor for developing the disease. Carriers of this genetic result are at increased risk of developing the disease.

Pharmacogenetics

The genetic variant rs5443 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 rs5443. 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
CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have increased Drug Effect to ATENOLOL.

more info

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have decreased Drug Effect to ATENOLOL.

more info

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have decreased Drug Effect to ATENOLOL.

more info

Legend:

Increased

Decreased

No known effect

Genotype
Level of evidence
Impacts
Summary
CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have decreased Drug Effect to CLONIDINE.

more info

CT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/T have increased Drug Effect to CLONIDINE.

more info

TT

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype T/T have increased Drug Effect to CLONIDINE.

more info

Legend:

Increased

Decreased

No known effect

Genotype
Level of evidence
Impacts
Summary
CC

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

CT

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

TT

Breakdown

Drug Effect

Side Effects

Dosage

No summary available.

more info

Legend:

Increased

Decreased

No known effect

Genotype
CC
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have increased Drug Effect to ATENOLOL.

Level of evidence

More info

Genotype
CT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have decreased Drug Effect to ATENOLOL.

Level of evidence

More info

Genotype
TT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have decreased Drug Effect to ATENOLOL.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Genotype
CC
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have decreased Drug Effect to CLONIDINE.

Level of evidence

More info

Genotype
CT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/T have increased Drug Effect to CLONIDINE.

Level of evidence

More info

Genotype
TT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype T/T have increased Drug Effect to CLONIDINE.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Genotype
CC
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
CT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Genotype
TT
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

No summary available.

Level of evidence

More info

Legend:

Increased

Decreased

No known effect

Drugs related to rs5443

All drugs that are linked to rs5443 are listed here.

Studies and Sources

All of the resources below examine variant rs5443

Association of CNR1 and INSIG2 polymorphisms with antipsychotics-induced weight gain: a prospective nested case–control study (7/27/21)

Natalia Jimeno, Veronica Velasco-Gonzalez, Inmaculada Fierro, Mercedes Duran, Alfonso Carvajal

PMC: 8316361
Role of CGRP pathway polymorphisms in migraine: a systematic review and impact on CGRP mAbs migraine therapy (7/30/21)

Damiana Scuteri, Maria Tiziana Corasaniti, Paolo Tonin, Pierluigi Nicotera, Giacinto Bagetta

PMC: 8325208
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