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Atrial septal defect

EFO Endpoint Browser PheWeb

Q17_ASD

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 — Q21.1
  • Hospital discharge: ICD-9 — 7455A|7456A
  • Hospital discharge: excluded ICD-10 — Q20|Q2111|Q2[2-5]|Q26[0-1]|Q26[5-9]
  • Cause of death: ICD-10 — Q21.1
  • Cause of death: ICD-9 — 7455A|7456A
  • Cause of death: excluded ICD-10 — Q20|Q2111|Q2[2-5]|Q26[0-1]|Q26[5-9]
  • Operations: NOMESCO codes — ^FFC00|^FFC02|^FFC22|^FFC50|^FFC96

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

1348

4. Check minimum number of events

None

1348

5. Include endpoints

None

1348

6. Filter based on genotype QC (FinnGen only)

1296

Control definitions (FinnGen only)

Extra metadata

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

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 13463 7684 5736
Only index persons 10427 6013 4414
Unadjusted period prevalence (%)
Whole population 0.19 0.22 0.16
Only index persons 0.20 0.22 0.17
Median age at first event (years)
Whole population 10.26 11.40 8.49
Only index persons 19.79 22.50 16.11

-FinnGen-

Key figures

All Female Male
Number of individuals 1296 797 499
Unadjusted period prevalence (%) 0.29 0.31 0.25
Median age at first event (years) 41.04 39.18 44.01

-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

Mortality – FinRegistry

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Association

Association between endpoint Q17_ASD and mortality.

Females

Parameter HR [95% CI] p-value
Q17_ASD 1.807 [1.57, 2.09] < 0.001
Birth year 0.999 [0.99, 1.01] 0.845

During the follow-up period (1.1.1998 — 31.12.2019), 451 out of 5990 females with Q17_ASD died.

Males

Parameter HR [95% CI] p-value
Q17_ASD 1.752 [1.5, 2.04] < 0.001
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 363 out of 4494 males with Q17_ASD died.

Mortality risk

Mortality risk for people of age

years, who have Q17_ASD.

N-year risk Females Males
1 0.2% 0.337%
5 1.099% 2.003%
10 2.988% 5.23%
15 5.839% 9.857%
20 10.621% 15.809%

Relationships between endpoints

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Index endpoint: Q17_ASD – Atrial septal defect

GWS hits: 3

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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