Overview · Document 03 of 24
Glossary
Plain-language definitions for the rsIDs, genotypes, significance tiers, and evidence levels used throughout this report. This page is a reference and contains no personal findings.
11 terms defined
Assembly GRCh37
Reviewed 2026-01-15
Provenance
Definitions
- rsID
- A reference SNP identifier (for example,
rs1801133) assigned by dbSNP to a specific variant position. Each finding in this report names the rsID it rests on. - SNP
- A single-nucleotide polymorphism: one position in the genome where a single DNA base varies between people.
- Genotype
- The pair of alleles observed at a position, one inherited from each parent (for example,
CT). Two identical alleles are homozygous; two different alleles are heterozygous. - chr:pos
- The chromosome and base-pair coordinate of a variant on the reference assembly (for example,
1:11,856,378). - Reference assembly (GRCh37)
- The coordinate system every position in this report is reported against — GRCh37, also called hg19.
- Tier 1
- A variant with established clinical action.
- Tier 2
- A variant with moderate or emerging evidence.
- Tier 3
- A variant reported for transparency; current evidence is insufficient for clinical action.
- CPIC Level A–D
- The Clinical Pharmacogenetics Implementation Consortium grade for a drug–gene pair. Level A reflects the strongest prescribing evidence; Level D the weakest.
- Provenance block
- The card at the top of each document recording the source file hash, assembly, evidence sources, and supersession, so each page traces back to the raw export.
- Allow-list source
- One of the eight authoritative references this report is permitted to cite: PubMed, ClinVar, CPIC, PharmGKB, the FDA PGx table, GWAS Catalog, dbSNP, and gnomAD.
- Supersession
- The record of a document replacing an earlier version; the prior hash is kept under Supersedes in the provenance block.
Reference glossary. This HelixlyAI page defines terms used across a synthetic demonstration report generated from a consumer DNA export. It is not a diagnosis, prescription, or substitute for professional medical advice. For any health decision, consult your prescribing clinician.