What is Single Nucleotide Polymorphism (SNP)?
What is Single Nucleotide Polymorphism (SNP)?
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Correct Answer: Option C
Explanation
Single Nucleotide Polymorphism (SNP) definition: A SNP is a variation at a single nucleotide position in the genome that is present at a frequency ofin a given population (minor allele frequency, MAF). This threshold distinguishes common SNPs from rare variants (MAF <1%). The human genome contains approximately 4–6 million SNPs (one every ~500–1000 bp on average). SNPs are the most common type of genetic variation and are used for: GWAS (genome-wide association studies), pharmacogenomics, ancestry analysis (population genetics), forensic identification. A variant at <1% frequency is called a rare variant or private mutation, not a SNP.