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Enum: PopulationEffectDifferenceEnum

Which aspect of a variant's effect the source reports for the population, relative to the comparator population or to the variant's overall characterization.

URI: dismech:enum/PopulationEffectDifferenceEnum

Permissible Values

Value Meaning Description
CLASSIFICATION None The variant's pathogenicity classification or causal status differs in this p...
PENETRANCE None The proportion of carriers who develop the disease differs
SEVERITY None Disease severity, age at onset, or complication rate differs
PHENOTYPE_SPECTRUM None Which clinical features occur, or how often, differs (for example atypical or...
ALLELE_FREQUENCY None The variant's frequency among patients or in the general population differs, ...
NO_DIFFERENCE None The source compared the variant's effect across populations and reported no d...

Slots

Name Description
effect_differences Which aspects of the variant's effect the source reports as differing in this...

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: PopulationEffectDifferenceEnum
description: Which aspect of a variant's effect the source reports for the population,
  relative to the comparator population or to the variant's overall characterization.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  CLASSIFICATION:
    text: CLASSIFICATION
    description: The variant's pathogenicity classification or causal status differs
      in this population (for example disease-causing in one population, a common
      low-penetrance allele in another).
  PENETRANCE:
    text: PENETRANCE
    description: The proportion of carriers who develop the disease differs.
  SEVERITY:
    text: SEVERITY
    description: Disease severity, age at onset, or complication rate differs.
  PHENOTYPE_SPECTRUM:
    text: PHENOTYPE_SPECTRUM
    description: Which clinical features occur, or how often, differs (for example
      atypical or incomplete presentations).
  ALLELE_FREQUENCY:
    text: ALLELE_FREQUENCY
    description: The variant's frequency among patients or in the general population
      differs, as reported by the source.
  NO_DIFFERENCE:
    text: NO_DIFFERENCE
    description: The source compared the variant's effect across populations and reported
      no difference. A tested null is a finding; record it so a reader does not assume
      a population effect.