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Noncoding Variant

Definition
AI-generated

A noncoding variant is a variant outside protein-coding sequence, such as in intronic, intergenic, untranslated, promoter, or enhancer regions.

Topics
Core genetics
Related
Candidate cis-Regulatory Element (cCRE) Cis-Regulatory Element (CRE) Colocalization

Why it matters in GWAS

Noncoding variants often influence gene regulation rather than protein sequence, which is why annotation frequently relies on eQTL, chromatin, and fine-mapping evidence.

Example usage

"A replication step checks whether Noncoding Variant assumptions remain stable across cohorts."

Candidate cis-Regulatory Element (cCRE) Cis-Regulatory Element (CRE) Colocalization Enhancer Expression Quantitative Trait Locus (eQTL) Promoter Credible Set Fine-Mapping Splice-Site Variant 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

  • Gallagher MD, Chen-Plotkin AS. (2018). The post-GWAS era: from association to function. Am J Hum Genet.
← Non-risk Allele Nonsense-mediated decay (NMD) →

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