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Principles of Pharmacogenetics: Types of Genetic Variants

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...

Genetic Variation

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...

Human Genetics

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

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Updated: Apr 17, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

The ARVD/C genetic variants database: 2014 update.

Elisabetta Lazzarini¹, Jan D H Jongbloed, Kalliopi Pilichou

¹Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

|February 14, 2015

Summary

This summary is machine-generated.

Arrhythmogenic cardiomyopathy (ACM) is an inherited heart condition. Genetic databases now track over 1,400 variants in 12 ACM genes, aiding in understanding and diagnosing this disease.

Keywords:

cardiomyopathy database genetics

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

Cardiovascular Genetics
Inherited Cardiac Diseases

Background:

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiac disease.
It is characterized by fibro-fatty replacement of the myocardium, leading to ventricular arrhythmias and sudden death.

Purpose of the Study:

To update and expand the Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) Genetic Variants Database.
To provide a comprehensive resource for ACM-associated genetic variants to aid interpretation and genetic counseling.

Main Methods:

Collected genetic data from over 160 publications.
Updated the ARVD/C database to include over 1,400 variants in 12 ACM-related genes as of April 20, 2014.

Main Results:

The updated database contains over 1,400 variants in 12 ACM-related genes.
Only 411 of these variants are currently reported as pathogenic, with the significance of approximately 1,000 variants remaining unknown.

Conclusions:

The expanded ARVD/C database is a valuable resource for ACM genetic data.
This collection facilitates the interpretation of genetic variants and supports genetic counseling for arrhythmogenic cardiomyopathy.