GeneListItem¶
Trial Use
May change in future releases. See the GKM Maturity Model.
One gene associated with a ClinVar variation: a reference to the gene's MappableConcept in the bundle's gene section, plus ClinVar's relationship_type and source.
JSON Schema: GeneListItem
Information Model¶
| Field | Type | Limits | Description |
|---|---|---|---|
gene |
iriReference | 1..1 | Reference to the gene MappableConcept in the bundle's gene section (e.g. #/gene/ncbigene:672). |
relationship_type |
string |
1..1 | The relationship between the variation and the gene as reported by ClinVar (e.g., within single gene, genes overlapped by variant). |
source |
string |
1..1 | The source of the gene association: submitted (asserted by the submitter) or calculated (computed by ClinVar). |