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Code System Owner

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 and be submitted to 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."

In the context of the representation of PharmVar in HL7 standards: 

• The concept identifier is the PharmVar ID
• The concept display name is the Allele Name
• There are several concept properties associated with PharmVar concepts (Legacy Label, Variants, etc.)
• The code system is represented with an is-a hierarchy