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Qualitative platelet defects

DOID Endpoint Browser PheWeb

D3_QUALIPATELETDEF

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 — D69.1
  • Hospital discharge: ICD-9 — 2871
  • Hospital discharge: ICD-8 — 28730
  • Cause of death: ICD-10 — D69.1
  • Cause of death: ICD-9 — 2871
  • Cause of death: ICD-8 — 28730

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

128

4. Check minimum number of events

None

128

5. Include endpoints

None

128

6. Filter based on genotype QC (FinnGen only)

125

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 D69
Name in latin Defectus qualitativi thrombocytorum

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 867 530 331
Only index persons 724 456 268
Unadjusted period prevalence (%)
Whole population 0.01 0.02 0.01
Only index persons 0.01 0.02 0.01
Median age at first event (years)
Whole population 49.02 48.30 49.74
Only index persons 46.38 45.50 47.87

-FinnGen-

Key figures

All Female Male
Number of individuals 125 81 44
Unadjusted period prevalence (%) 0.03 0.03 0.02
Median age at first event (years) 49.36 43.46 60.22

-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_QUALIPATELETDEF and mortality.

Females

Parameter HR [95% CI] p-value
D3_QUALIPATELETDEF 2.075 [1.4, 3.07] < 0.001
Birth year 0.995 [0.99, 1.0] 0.246

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 401 females with D3_QUALIPATELETDEF died.

Males

Parameter HR [95% CI] p-value
D3_QUALIPATELETDEF 2.304 [1.61, 3.31] < 0.001
Birth year 0.988 [0.98, 1.0] 0.01

During the follow-up period (1.1.1998 — 31.12.2019), 98 out of 278 males with D3_QUALIPATELETDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_QUALIPATELETDEF.

N-year risk Females Males
1 0.184% 0.492%
5 1.265% 2.769%
10 3.326% 6.831%
15 6.02% 12.131%
20 9.835% 20.27%

Relationships between endpoints

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Index endpoint: D3_QUALIPATELETDEF – Qualitative platelet defects

GWS hits: -

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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