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. |
488 |
4. Check minimum number of eventsNone |
488 |
5. Include endpointsNone |
488 |
6. Filter based on genotype QC (FinnGen only) |
460 |
Control definitions (FinnGen only)
Control exclude
H7_CHOROIDRETINA
Extra metadata
Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
H35
Name in latin
Dystrophia retinae hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary retinal dystrophy
based on the number of shared cases.
Similar with more cases:
- Other retinal disorders
- Disorders of choroid and retina
- Diseases of the eye and adnexa
- 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 | 4684 | 2315 | 2334 |
| Only index persons | 4245 | 2126 | 2119 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.07 | 0.07 |
| Only index persons | 0.08 | 0.08 | 0.08 |
| Median age at first event (years) | |||
| Whole population | 47.51 | 50.32 | 44.83 |
| Only index persons | 46.92 | 49.66 | 44.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 460 | 246 | 214 |
| Unadjusted period prevalence (%) | 0.10 | 0.10 | 0.11 |
| Median age at first event (years) | 48.31 | 47.84 | 48.85 |
-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 H7_HEREDRETINADYST and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.142 [0.98, 1.33] | 0.085 |
| Birth year | 0.991 [0.98, 1.0] | 0.052 |
During the follow-up period (1.1.1998 — 31.12.2019), 357 out of 1932 females with H7_HEREDRETINADYST died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| H7_HEREDRETINADYST | 1.248 [1.07, 1.45] | 0.005 |
| Birth year | 0.985 [0.97, 0.99] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 308 out of 1922 males with H7_HEREDRETINADYST died.
Mortality risk
Mortality risk for people of age
years, who have H7_HEREDRETINADYST.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.082% | 0.255% |
| 5 | 0.593% | 1.276% |
| 10 | 1.471% | 3.37% |
| 15 | 2.919% | 6.343% |
| 20 | 5.228% | 10.549% |
Relationships between endpoints
↥Index endpoint: H7_HEREDRETINADYST – Hereditary retinal dystrophy
GWS hits: 11
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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