No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
132 |
4. Check minimum number of eventsNone |
132 |
5. Include endpointsNone |
132 |
6. Filter based on genotype QC (FinnGen only) |
126 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF7
Similar endpoints
↥List of similar endpoints to
Atrioventricular septal defect
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of heart and great arteries
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2000 | 1168 | 826 |
| Only index persons | 1460 | 841 | 619 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.02 |
| Only index persons | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 4.19 | 4.72 | 3.16 |
| Only index persons | 8.98 | 10.27 | 7.24 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 126 | 79 | 47 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 31.31 | 29.28 | 34.72 |
-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
↥Association
Association between endpoint Q17_AVSD and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_AVSD | 4.493 [3.29, 6.14] | < 0.001 |
| Birth year | 0.994 [0.99, 1.0] | 0.172 |
During the follow-up period (1.1.1998 — 31.12.2019), 95 out of 688 females with Q17_AVSD died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_AVSD | 4.775 [3.37, 6.76] | < 0.001 |
| Birth year | 0.985 [0.98, 0.99] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 82 out of 494 males with Q17_AVSD died.
Mortality risk
Mortality risk for people of age
years, who have Q17_AVSD.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.368% | 0.978% |
| 5 | 2.179% | 6.07% |
| 10 | 6.341% | 13.382% |
| 15 | 11.155% | 23.091% |
| 20 | 19.056% | 36.039% |
Relationships between endpoints
↥Index endpoint: Q17_AVSD – Atrioventricular septal defect
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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