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Reference Allele

Definition
AI-generated

The reference allele is the nucleotide at a site on a chosen reference genome assembly (e.g. GRCh38).

Topics
Core genetics
Related
Allele Alternative Allele Effect Allele

Why it matters in GWAS

Reference alleles are not necessarily major or non-risk alleles; association effect alleles should be reconciled explicitly to REF/ALT when merging summary statistics.

Example usage

"Downstream interpretation uses Reference Allele to connect statistical evidence with biological context."

Allele Alternative Allele Effect Allele LiftOver
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

← Reduced-representation bisulfite sequencing (RRBS) Reference genome →

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