Genetic variant

Genetic variant refers to a difference in the DNA sequence among individuals, groups, or populations. Genetic variants can occur in many forms, such as single nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations. They can have a range of effects on health, from benign to pathogenic.

Types of Genetic Variants

There are several types of genetic variants, including:

• Single nucleotide polymorphisms (SNPs): These are the most common type of genetic variant. They occur when a single nucleotide (A, T, C, or G) in the genome sequence is altered.

• Insertions and Deletions: These types of variants occur when nucleotides are added or removed from the genome sequence.

• Copy number variations (CNVs): These variants occur when large regions of the genome are duplicated or deleted.

Effects of Genetic Variants

Genetic variants can have a range of effects on health. Some variants are benign and do not affect health. Others can increase the risk of developing certain diseases or conditions. Still others can cause disease directly. The effect of a genetic variant depends on its location in the genome and the change it causes in the DNA sequence.

Genetic Variant and Disease

Many diseases and conditions are associated with genetic variants. For example, certain variants in the BRCA1 and BRCA2 genes increase the risk of developing breast cancer and ovarian cancer. Other variants can cause rare genetic disorders, such as cystic fibrosis or sickle cell anemia.

See Also

• Genetics
• Genome
• DNA
• Genetic disorder
• Genetic testing

References

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