variant
Identifier
Section titled “Identifier”Description
Section titled “Description”Core variant information for all variants in the Platform.
Variants are included if any phenotypic information is available for the variant, including GWAS or molQTL credible sets, ClinVar, Uniprot or ClinPGx.
The dataset includes variant metadata as well as variant effects derived from Ensembl VEP [Genetics]
Partitions
Section titled “Partitions”release'26.06'
Schema
Section titled “Schema”| Column | Type | Description |
|---|---|---|
variantId |
TEXT |
Unique identifier for the variant following schema: {chromosome}-{position}-{referenceAllele}-{alternateAllele} |
chromosome |
TEXT |
Chromosome on which the variant is located |
position |
INT |
Variant’s position on the chromosome |
referenceAllele |
TEXT |
Reference allele for the variant |
alternateAllele |
TEXT |
Alternate allele for the variant |
variantEffect |
STRUCT(method TEXT, assessment TEXT, score FLOAT, assessmentFlag TEXT, targetId TEXT, normalisedScore DOUBLE)[] |
Predicted or measured effect of the variant based on various methods |
mostSevereConsequenceId |
TEXT |
Sequence ontology identifier of the most severe consequence of the variant based on Ensembl VEP [bioregistry:so] |
transcriptConsequences |
STRUCT(variantFunctionalConsequenceIds TEXT[], aminoAcidChange TEXT, uniprotAccessions TEXT[], isEnsemblCanonical BOOLEAN, codons TEXT, distanceFromFootprint BIGINT, distanceFromTss BIGINT, appris TEXT, maneSelect TEXT, targetId TEXT, impact TEXT, lofteePrediction TEXT, siftPrediction FLOAT, polyphenPrediction FLOAT, consequenceScore FLOAT, transcriptIndex INT, approvedSymbol TEXT, biotype TEXT, transcriptId TEXT)[] |
Predicted consequences on transcript context |
rsIds |
TEXT[] |
RsIds for the variant |
hgvsId |
TEXT |
HGVS identifier of the variant |
alleleFrequencies |
STRUCT(populationName TEXT, alleleFrequency DOUBLE)[] |
Allele frequencies of the variant in different populations |
dbXrefs |
STRUCT(id TEXT, source TEXT)[] |
Cross-references for the variant in different databases |
variantDescription |
TEXT |
Short summary of the variant effect |
release |
TEXT |
Partition column. Open Targets Platform release version (major.minor), e.g. 26.06. [Added during ingest.] |