PharmVar
type: CodeSystem
node role: treeRoot
id:
  v: PharmVar
text:
  status:
    v: generated
  div:
    v: Generated Narrative: CodeSystem PharmVar This case-sensitive code system http://www.pharmvar.org defines codes, but no codes are represented here
url:
  v: http://www.pharmvar.org
  l: www.pharmvar.org
version:
  v: 1.0.0
name:
  v: PharmVar
title:
  v: Pharmacogene Variation
status:
  v: active
experimental:
  v: false
date:
  v: 2024-04-29T00:00:00-00:00
publisher:
  v: Pharmacogene Variation Consortium
contact:
  name:
    v: Pharmacogene Variation Consortium
  telecom:
    system:
      v: url
    value:
      v: https://www.pharmvar.org/
  telecom:
    system:
      v: email
description:
  v: "The major focus of the Pharmacogene Consortium (PharmVar) is to serve as a repository for allelic variation, providing an official and unified allele designation system for the Pharmacogenetics (PGx) community and facilitating the translation of genotype into phenotype and clinical implementation of PGx. While the majority of pharmacogenes in PharmVar utilize the star nomenclature to describe variation, the provision of single nucleotide variants (SNVs), rather than haplotype, is preferred for some genes. Thus, PharmVar has two different page formats, A) using star nomenclature and B) using rs ID# as allele (referred to as ‘rs-format’). PharmVar designates human pharmacogene variation and houses allelic variants in the PharmVar database. * All submissions to PharmVar must use the submission form available on [www.PharmVar.org](https://www.pharmvar.org/) and be submitted to [submissions@PharmVar.org](mailto:submissions@PharmVar.org). Only complete submission requests will be accepted and processed. * PharmVar Gene Expert Panels will review each submission and make a recommendation to the PharmVar Steering Committee. * In this ‘Allele Designation Criteria and Evidence level’ document, we collectively refer to deviations from the RefSeq as “sequence variations” or "SNVs", including single nucleotide polymorphisms (SNPs) and small nucleotide insertions and deletions (indels) up to 50 bp. Copy number variants (i.e. entire or partial gene deletions and duplications), hybrid genes (e.g. CYP2D6/2D7 hybrids) and duplications containing non-identical gene copies (e.g. CYP2D6\*36+\*10) are referred to as CNVs or structural variants. * PharmVar applies the following criteria for allele designation. In rare cases, exceptions may be made to accommodate established star allele definitions to minimize impact on research, clinical labs and/or PGx implementation." PharmVar is released monthly (or more frequently) and uses a numbered database version format for each release. Note on …
copyright:
  v: The PharmVar database content is licensed under a [Creative Commons Attribution-ShareAlike 4.0 International license](https://creativecommons.org/licenses/by-sa/4.0/) that allows for the sharing and adaptation of our information with proper attribution. See [https://www.pharmvar.org/terms-and-conditions](https://www.pharmvar.org/terms-and-conditions) for Terms and Conditions.
case sensitive:
  v: true
content:
  v: not-present