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Single Nucleotide Polymorphisms and Common Human Genetic Variation

The unit of a GWAS is the SNP. Students often conflate 'variant' with 'mutation'; this node fixes the population-level framing.

Questions this Concept answers

Why does the population frequency of a variant matter when calling it a SNP rather than a mutation?

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Human genetic variation

Human genetic variation is the ordinary difference between any two people's genomes: a typical genome differs from the reference at roughly 4-5 million sites, and more than 99.9 percent of those diff…