Slot: population_effects
Population-scoped findings about this variant: how its classification, penetrance, severity, phenotype spectrum, or frequency differs in a named population. One record per population and source. Use when a variant's effect is reported to depend on the population it is observed in, rather than collapsing it into the single population-blind clinical_significance.
URI: dismech:slot/population_effects
Alias: population_effects
Applicable Classes
| Name |
Description |
Modifies Slot |
| Variant |
A genetic variant associated with a disease, including coding and non-coding ... |
no |
Properties
Type and Range
Cardinality and Requirements
| Property |
Value |
| Multivalued |
Yes |
Schema Source
- from schema: https://w3id.org/monarch-initiative/dismech
Mappings
| Mapping Type |
Mapped Value |
| self |
dismech:population_effects |
| native |
dismech:population_effects |
LinkML Source
name: population_effects
description: 'Population-scoped findings about this variant: how its classification,
penetrance, severity, phenotype spectrum, or frequency differs in a named population.
One record per population and source. Use when a variant''s effect is reported to
depend on the population it is observed in, rather than collapsing it into the single
population-blind clinical_significance.'
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: population_effects
domain_of:
- Variant
range: VariantPopulationEffect
multivalued: true
inlined: true
inlined_as_list: true