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Sentinel Variant

Definition
AI-generated

A sentinel variant is the single variant chosen to represent an association signal at a locus, usually the variant with the strongest association (smallest p-value) in that region.

Topics
GWAS Post-GWAS
Related
Lead Variant Top Variant Index Variant

Why it matters in GWAS

GWAS papers often summarize each associated region using one representative marker. Calling a variant the sentinel makes clear it is a tagging or reporting choice for that locus-level signal, not necessarily the biological causal variant.

Example usage

"The locus was indexed by a sentinel variant near the promoter, and conditional analysis suggested an additional independent signal."

Lead Variant Top Variant Index Variant Locus Linkage Disequilibrium (LD) Fine-Mapping
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
  • Buniello A, et al. (2019). The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. https://doi.org/10.1093/nar/gky1120
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