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Hereditary elliptocytosis

D3_HEREELLIPTO

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 D58.1
  • Hospital discharge: ICD-9 2821A
  • Hospital discharge: ICD-8 2821
  • Cause of death: ICD-10 D58.1
  • Cause of death: ICD-9 2821A
  • Cause of death: ICD-8 2821

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

14

4. Check minimum number of events

None

14

5. Include endpoints

None

14

6. Filter based on genotype QC (FinnGen only)

14

Control definitions (FinnGen only)

Control exclude
D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D58
Name in latin
Elliptocytosis hereditaria

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 139 75 64
Only index persons 109 57 52
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 44.55 49.73
Only index persons 38.96 35.72 42.51

-FinnGen-

Key figures

All Female Male
Number of individuals 14 9 5
Unadjusted period prevalence (%) 0.00 0.00 0.00
Median age at first event (years) 52.81 51.06 55.95

-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
7
8
15.85
4.36
3.4
5.3
2.9
2.4
%
—
7
8
8
22
7.02
2.95
5.7
5.3
—
—
—
0
0
6
24
3.59
1.50
1.0
2.0
—
—
—
0
0
5
26
2.42
0.80
2.6
7.2
—
—
—
0
0
0
19
0.00
0.66
0.0
1.1
—
—
—
0
0
7
44
2.17
0.64
8.3
6.2
0.0
0.0
e9/l
—
7
32
5
38
1.49
0.27
9.6
4.1
1.3
1.8
ug/l
—
5
31
5
38
1.49
0.27
3.8
3.8
2.4
2.3
mmol/l
—
5
30
6
47
1.48
0.25
1.3
2.0
—
—
—
0
0
0
10
0.00
0.22
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
97.2
—
0
6
0
5
0.00
0.00
0.0
4.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
238.2
—
0
5
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
5
47
1.10
0.00
3.6
2.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
6
0.00
0.00
0.0
3.5
—
—
—
0
0
8
76
1.12
0.00
3.3
4.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
5
49
1.03
0.00
5.4
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_HEREELLIPTO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HEREELLIPTO.

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_HEREELLIPTO – Hereditary elliptocytosis

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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