No definition available.
Congenital malformations of heart and great arteries
DOID EFO Endpoint Browser PheWeb
CONGEN_HEART_ARTER
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. |
4993 |
4. Check minimum number of eventsNone |
4993 |
5. Include endpointsNone |
4993 |
6. Filter based on genotype QC (FinnGen only) |
4771 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Congenital malformations of heart and great arteries
based on the number of shared cases.
Similar with more cases:
- Congenital malformations, deformations and chromosomal abnormalities
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 68879 | 34201 | 34478 |
| Only index persons | 46707 | 23175 | 23532 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.97 | 0.98 | 0.96 |
| Only index persons | 0.88 | 0.85 | 0.90 |
| Median age at first event (years) | |||
| Whole population | 1.62 | 1.26 | 1.74 |
| Only index persons | 6.90 | 6.40 | 7.40 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 4771 | 2466 | 2305 |
| Unadjusted period prevalence (%) | 1.06 | 0.97 | 1.16 |
| Median age at first event (years) | 31.87 | 25.64 | 38.53 |
-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
↥Association
Association between endpoint CONGEN_HEART_ARTER and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CONGEN_HEART_ARTER | 1.809 [1.54, 2.13] | < 0.001 |
| Birth year | 0.996 [0.98, 1.01] | 0.586 |
During the follow-up period (1.1.1998 — 31.12.2019), 971 out of 23516 females with CONGEN_HEART_ARTER died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| CONGEN_HEART_ARTER | 1.62 [1.38, 1.9] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 1043 out of 23241 males with CONGEN_HEART_ARTER died.
Mortality risk
Mortality risk for people of age
years, who have CONGEN_HEART_ARTER.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.178% | 0.314% |
| 5 | 1.067% | 1.74% |
| 10 | 2.854% | 4.484% |
| 15 | 5.321% | 8.146% |
| 20 | 9.593% | 14.186% |
Relationships between endpoints
↥Index endpoint: CONGEN_HEART_ARTER – Congenital malformations of heart and great arteries
GWS hits: 5
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
Loading data