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Hereditary deficiency of other clotting factors

DOID EFO Endpoint Browser PheWeb

D3_HEREDOTHCLOFACTORS

Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — D68.2
  • Hospital discharge: ICD-9 — 2863
  • Hospital discharge: ICD-8 — 28651
  • Cause of death: ICD-10 — D68.2
  • Cause of death: ICD-9 — 2863
  • Cause of death: ICD-8 — 28651

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

292

4. Check minimum number of events

None

292

5. Include endpoints

None

292

6. Filter based on genotype QC (FinnGen only)

281

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D68
Name in latin Deficientia hereditaria aliorum factorum coagulationis

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 2150 1552 590
Only index persons 2039 1500 539
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.02
Only index persons 0.05 0.06 0.02
Median age at first event (years)
Whole population 36.75 32.72 47.34
Only index persons 36.81 32.79 47.98

-FinnGen-

Key figures

All Female Male
Number of individuals 281 208 73
Unadjusted period prevalence (%) 0.07 0.08 0.04
Median age at first event (years) 41.79 36.61 56.54

-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

No data

Mortality – FinRegistry

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Association

Association between endpoint D3_HEREDOTHCLOFACTORS and mortality.

Females

Parameter HR [95% CI] p-value
D3_HEREDOTHCLOFACTORS 1.209 [0.9, 1.63] 0.215
Birth year 0.999 [0.99, 1.01] 0.889

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 1392 females with D3_HEREDOTHCLOFACTORS died.

Males

Parameter HR [95% CI] p-value
D3_HEREDOTHCLOFACTORS 1.731 [1.28, 2.33] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 64 out of 470 males with D3_HEREDOTHCLOFACTORS died.

Mortality risk

Mortality risk for people of age

years, who have D3_HEREDOTHCLOFACTORS.

N-year risk Females Males
1 0.131% 0.313%
5 0.801% 2.019%
10 2.02% 4.984%
15 3.777% 8.99%
20 6.841% 15.016%

Relationships between endpoints

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Index endpoint: D3_HEREDOTHCLOFACTORS – Hereditary deficiency of other clotting factors

GWS hits: 6

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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