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Definition of Single nucleotide polymorphism
Medically reviewed by Dr. Otari Nergadze, Neurosurgeon | Updated: January 2026
Single nucleotide polymorphism: A change in which a single base in the DNA differs from the usual base at that position. Abbreviated SNP and pronounced snip.
Millions of SNP's have been cataloged in the human genome. Some SNPs are responsible for disease such as the SNP responsible for sickle cell disease. Many other SNPs are normal variations in the genome.