HL7 Terminology
1.0.0 - Publication

This page is part of the HL7 Terminology (v1.0.0: Release) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions

Format(s):

Narrative view

Generated Narrative with Details

id: v3-dbSNP

name: DbSNP

status: active

kind: codesystem

date: Mar 20, 2019, 12:00:00 AM

publisher: National Center for Biotechnology Information

responsible: National Center for Biotechnology Information

description: In collaboration with the National Human Genome Research Institute, The National Center for Biotechnology Information has established the dbSNP database to serve as a central repository for both single base nucleotide substitutions and short deletion and insertion polymorphisms. The entries in the dbSNP database can be used with the HL7 coded data type. For example, in the HL7 messages specified according to the HL7 V2 Clinical Genomics Fully LOINC-Qualified Genetic Variation Model, dbSNP entries can be used to as the observation values for DNA sequence variation identifiers. For example, OBX|1|CWE|48004-6^DNA Sequence Variation Identifier^LN||rs55538123^^dbSNP Versioning is identified by the build id. A new build is released approximately every six months or every year. The latest build id is 130, and the dbSNP web query for built 130 was available on Apr 30, 2009. dbSNP is a database that can be used freely by the public. More information may be fouond at: http://www.ncbi.nlm.nih.gov/projects/SNP/

uniqueId

type: oid

value: 2.16.840.1.113883.6.284

preferred: true

uniqueId

type: uri

value: http://www.ncbi.nlm.nih.gov/projects/SNP

preferred: true