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Synonymous Variant

Definition
AI-generated

A synonymous variant is a coding variant that changes the DNA sequence without changing the encoded amino acid.

Topics

Why it matters in GWAS

Synonymous variants are often interpreted as lower-impact than protein-altering variants, but they should not be assumed to be functionally irrelevant.

Example usage

"The associated coding SNP was annotated as a synonymous variant in the canonical transcript."

References

  • McLaren W, et al. (2016). The Ensembl Variant Effect Predictor. Genome Biol.

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