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. |
86 |
4. Check minimum number of eventsNone |
86 |
5. Include endpointsNone |
86 |
6. Filter based on genotype QC (FinnGen only) |
80 |
Control definitions (FinnGen only)
Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF6v3
Similar endpoints
↥List of similar endpoints to
Congenital retinoschisis
based on the number of shared cases.
Similar with more cases:
- Congenital malformations of posterior segment of eye
- Congenital malformations of eye, ear, face and neck
- 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 | 1054 | 295 | 757 |
| Only index persons | 954 | 273 | 681 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.02 |
| Only index persons | 0.02 | 0.01 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 34.56 | 47.65 | 29.44 |
| Only index persons | 37.40 | 49.24 | 32.66 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 80 | 34 | 46 |
| Unadjusted period prevalence (%) | 0.02 | 0.01 | 0.02 |
| Median age at first event (years) | 56.21 | 56.84 | 55.75 |
-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_CONGEN_MALFO_RETI and mortality.
Females
No dataMales
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| Q17_CONGEN_MALFO_RETI | 0.904 [0.69, 1.18] | 0.455 |
| Birth year | 0.986 [0.98, 1.0] | 0.003 |
During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 707 males with Q17_CONGEN_MALFO_RETI died.
Mortality risk
Mortality risk for people of age
years, who have Q17_CONGEN_MALFO_RETI.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | 0.189% |
| 5 | No data | 1.041% |
| 10 | No data | 2.591% |
| 15 | No data | 4.784% |
| 20 | No data | 8.06% |
Relationships between endpoints
↥Index endpoint: Q17_CONGEN_MALFO_RETI – Congenital retinoschisis
GWS hits: 1
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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