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This is a non-core endpoint: only basic statistics are computed.

Primary thrombophilia

D3_PRIMTHROMBOPHILIA

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

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

Registry filters:

  • Hospital discharge: ICD-10 D685
  • Cause of death: ICD-10 D685

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

-

4. Check minimum number of events

None

-

5. Include endpoints

None

-

6. Filter based on genotype QC (FinnGen only)

None

-

Control definitions (FinnGen only)

Control exclude
D3_COAGDEF_PURPUR_HAEMORRHAGIC

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2

Similar endpoints

List of similar endpoints to Primary thrombophilia based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

None

Venn diagram with a set fully inside an highlighted set Similar with less cases:

None

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Not enough data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 10 7 -
Only index persons 10 7 -
Unadjusted period prevalence (%)
Whole population 0.00 0.00 -
Only index persons 0.00 0.00 -
Median age at first event (years)
Whole population - 72.57 -
Only index persons 65.38 72.57 -

-FinnGen-

Key figures

All Female Male
Number of individuals - - -
Unadjusted period prevalence (%) - - -
Median age at first event (years) - - -

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls

Mortality – FinRegistry

Association

Association between endpoint D3_PRIMTHROMBOPHILIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_PRIMTHROMBOPHILIA.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: D3_PRIMTHROMBOPHILIA – Primary thrombophilia

GWS hits: -

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