Congenital retinoschisis

Q17_CONGEN_MALFO_RETI

Endpoint definition

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:

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

86

4. Check minimum number of events

None

86

5. Include endpoints

None

86

6. Filter based on genotype QC (FinnGen only)

80

Control definitions (FinnGen only)

Extra metadata

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

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

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 data

Males

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
loading spinner Loading data