Preferred Label : Genetic Variation Identifier;
NCIt related terms : GeneticVariation.identifier; external_variant_id; external variant id; variant id; variant_id;
NCIt definition : A unique identifier maintained by an authoritative database that represents a genetic
variation.;
Alternative definition : BRIDG 5.3: A unique symbol that establishes the identity of the genetic variation.
EXAMPLE(S): An rs identifier in dbSNP, a mutation identifier in COSMIC, or a variant
identifier in OMIM OTHER NAME(S): NOTE(S):;
NCI Metathesaurus CUI : CL977901;
Origin ID : C164813;
UMLS CUI : C5236608;
Semantic type(s)
- concept_is_in_subset
