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Familial hypercholesterolemia

EFO Endpoint Browser PheWeb

E4_FH

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 — E78.00
  • Hospital discharge: ICD-9 — 2720A
  • Cause of death: ICD-10 — E78.00
  • Cause of death: ICD-9 — 2720A

2 out of 7 registries used, show all original rules.

5506

4. Check minimum number of events

None

5506

5. Include endpoints

None

5506

6. Filter based on genotype QC (FinnGen only)

5344

Control definitions (FinnGen only)

Control exclude E4_METABOLIA

Extra metadata

Level in the ICD hierarchy 5
First used in FinnGen datafreeze DF6v3

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 51090 24106 26865
Only index persons 48827 23192 25635
Unadjusted period prevalence (%)
Whole population 0.72 0.69 0.75
Only index persons 0.92 0.85 0.98
Median age at first event (years)
Whole population 68.34 71.31 65.66
Only index persons 68.32 71.27 65.66

-FinnGen-

Key figures

All Female Male
Number of individuals 5344 2148 3196
Unadjusted period prevalence (%) 1.43 0.93 1.76
Median age at first event (years) 65.46 65.62 65.36

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: E4_FH – Familial hypercholesterolemia

GWS hits: 22

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