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Other congenital malformations of posterior segment of eye (coloboma)

Q17_CONGEN_MALFO_OTHERPOSTER

Endpoint definition

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 Q14.8
  • Cause of death: ICD-10 Q14.8

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

32

4. Check minimum number of events

None

32

5. Include endpoints

None

32

6. Filter based on genotype QC (FinnGen only)

28

Control definitions (FinnGen only)

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF6v3

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 638 342 295
Only index persons 516 282 234
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 9.01 8.91 8.97
Only index persons 16.04 17.08 14.78

-FinnGen-

Key figures

All Female Male
Number of individuals 28 15 13
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 38.76 42.95 33.92

-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

Not a core endpoint, no data to show.

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_OTHERPOSTER and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_OTHERPOSTER.

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: Q17_CONGEN_MALFO_OTHERPOSTER – Other congenital malformations of posterior segment of eye (coloboma)

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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