This page is part of the HL7 Terminology (v6.0.0: Release) based on FHIR (HL7® FHIR® Standard) v5.0.0. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL
• History

CodeSystem: Genetic Sequence polymorphism database

Official URL: http://www.ncbi.nlm.nih.gov/projects/SNP				Version: 2.0.1
Retired as of 2021-11-09			Responsible: TBD - External Body	Computable Name: DbSNP
Other Identifiers: OID:2.16.840.1.113883.6.284

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/

This Code system is referenced in the content logical definition of the following value sets:

• This CodeSystem is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)