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ClinVar

Definition
AI-generated

ClinVar is a public archive linking human variants to clinical assertions—pathogenicity, drug response, and traits—aggregating submitter evidence.

Topics
Sequencing Data Analysis
URL
https://www.ncbi.nlm.nih.gov/clinvar/
Related
Variant Annotation

Why it matters in GWAS

ClinVar and similar resources contextualize coding rare variants found in sequencing GWAS or fine-mapping follow-up.

Example usage

"The missense variant was checked against ClinVar for overlapping clinical submissions."

Variant Annotation
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

  • Landrum MJ, et al. (2018). ClinVar: improving access to variant interpretations. Nucleic Acids Res.
← Class switch recombination CLIP-seq →

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