Intermittent heterotropia

H7_INTERHETEROTRO

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.

2174

4. Check minimum number of events

None

2174

5. Include endpoints

None

2174

6. Filter based on genotype QC (FinnGen only)

2082

Control definitions (FinnGen only)

Control exclude H7_OCUMUSCLE

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

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 40828 21955 18837
Only index persons 29323 15895 13428
Unadjusted period prevalence (%)
Whole population 0.58 0.63 0.53
Only index persons 0.55 0.58 0.51
Median age at first event (years)
Whole population 5.28 5.40 5.07
Only index persons 6.80 7.08 6.45

-FinnGen-

Key figures

All Female Male
Number of individuals 2082 1363 719
Unadjusted period prevalence (%) 0.48 0.54 0.36
Median age at first event (years) 23.59 21.56 27.44

-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_INTERHETEROTRO and mortality.

Females

Parameter HR [95% CI] p-value
H7_INTERHETEROTRO 1.207 [0.97, 1.5] 0.09
Birth year 0.999 [0.99, 1.01] 0.839

During the follow-up period (1.1.1998 — 31.12.2019), 413 out of 17721 females with H7_INTERHETEROTRO died.

Males

Parameter HR [95% CI] p-value
H7_INTERHETEROTRO 1.247 [1.01, 1.53] 0.036
Birth year 0.985 [0.98, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 436 out of 15644 males with H7_INTERHETEROTRO died.

Mortality risk

Mortality risk for people of age

years, who have H7_INTERHETEROTRO.

N-year risk Females Males
1 0.137% 0.3%
5 0.895% 1.526%
10 2.02% 3.477%
15 3.824% 6.621%
20 6.883% 11.084%

Relationships between endpoints

Index endpoint: H7_INTERHETEROTRO – Intermittent heterotropia

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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