A rare variant is a genetic variant which occurs at low frequency in a population. Rare variants play a significant role in both complex and Mendelian disease and are responsible for a portion of the missing heritability of complex diseases.
A rare variant is a genetic variant which occurs at low frequency in a population. Rare variants play a significant role in both complex and Mendelian disease and are responsible for a portion of the missing heritability of complex diseases.
Source: Wikipedia "Rare variant (genetics)" · CC BY-SA 4.0
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