Link

Type: SequenceVariant

An allele that varies in its sequence from what is considered the reference allele at that locus.

URI: biolink:SequenceVariant

GENO:0000002

WIKIDATA:Q15304597

SIO:010277

VMC:Allele

SO:0001059

SO:0001060


![img](http://yuml.me/diagram/nofunky;dir:TB/class/[VariantToThingAssociation],[VariantToPopulationAssociation],[VariantToPhenotypicFeatureAssociation],[VariantAsAModelOfDiseaseAssociation],[Snv],[SequenceVariantModulatesTreatmentAssociation],[Gene]%3Chas%20gene%200..*-%20[SequenceVariant id:string;has_biological_sequence:biological_sequence%20%3F;name(i):label_type;category(i):category_type%20%2B],[GenotypeToVariantAssociation]-%20object%201..1%3E[SequenceVariant],[SequenceVariantModulatesTreatmentAssociation]-%20subject%201..1%3E[SequenceVariant],[GeneHasVariantThatContributesToDiseaseAssociation]-%20sequence%20variant%20qualifier%200..1%3E[SequenceVariant],[VariantAsAModelOfDiseaseAssociation]-%20subject%201..1%3E[SequenceVariant],[VariantToPhenotypicFeatureAssociation]-%20subject%201..1%3E[SequenceVariant],[VariantToPopulationAssociation]-%20subject%201..1%3E[SequenceVariant],[VariantToThingAssociation]-%20subject%201..1%3E[SequenceVariant],[SequenceVariant]%5E-[Snv],[GenomicEntity]%5E-[SequenceVariant],[OrganismTaxon],[GenotypeToVariantAssociation],[GenomicEntity],[GeneHasVariantThatContributesToDiseaseAssociation],[Gene],[Association])

Identifier prefixes

  • CAID
  • ClinVar
  • ClinVarVariant
  • WIKIDATA
  • DBSNP
  • dbSNP
  • MGI
  • ZFIN
  • FlyBase
  • FB
  • WB
  • WormBase

Parents

  • is_a: GenomicEntity - an entity that can either be directly located on a genome (gene, transcript, exon, regulatory region) or is encoded in a genome (protein)

Children

  • Snv - SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist

Referenced by class

Attributes

Own

Inherited from named thing:

  • id REQ
    • Description: A unique identifier for a thing. Must be either a CURIE shorthand for a URI or a complete URI
    • range: String
    • in subsets: (translator_minimal)
  • name REQ
    • Description: A human-readable name for a thing
    • range: LabelType
    • in subsets: (translator_minimal)
  • category 1..*
    • Description: Name of the high level ontology class in which this entity is categorized. Corresponds to the label for the biolink entity type class. In a neo4j database this MAY correspond to the neo4j label tag
    • range: CategoryType
    • in subsets: (translator_minimal)

Inherited from thing with taxon:

  • in taxon 0..*
    • Description: connects a thing to a class representing a taxon
    • range: OrganismTaxon
    • in subsets: (translator_minimal)

Domain for slot:

Other properties

     
Aliases:   allele
Local names:   allele (agr)
Mappings:   GENO:0000002
    WIKIDATA:Q15304597
    SIO:010277
    VMC:Allele
    SO:0001059
    SO:0001060
Alt Descriptions:   An enitity that describes a single affected, endogenous allele. These can be of any type that matches that definition (AGR)
    A contiguous change at a Location (VMC)
Comments:   This class is for modeling the specific state at a locus. A single dbSNP rs ID could correspond to more than one sequence variants (e.g CIViC:1252 and CIViC:1253, two distinct BRCA2 alleles for rs28897743)