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Heterophoria

DOID EFO Endpoint Browser PheWeb

H7_HETEROPHORIA

Endpoint definition

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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:

  • Hospital discharge: ICD-10 — H50.50, H50.51, H50.52, H50.59
  • Hospital discharge: ICD-9 — 3784
  • Hospital discharge: ICD-8 — 37303
  • Cause of death: ICD-10 — H50.50, H50.51, H50.52, H50.59
  • Cause of death: ICD-9 — 3784
  • Cause of death: ICD-8 — 37303

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

2958

4. Check minimum number of events

None

2958

5. Include endpoints

None

2958

6. Filter based on genotype QC (FinnGen only)

2870

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

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 35719 21245 14411
Only index persons 30356 18385 11971
Unadjusted period prevalence (%)
Whole population 0.52 0.61 0.40
Only index persons 0.59 0.68 0.46
Median age at first event (years)
Whole population 10.72 12.19 8.41
Only index persons 13.00 14.96 10.00

-FinnGen-

Key figures

All Female Male
Number of individuals 2870 2024 846
Unadjusted period prevalence (%) 0.69 0.79 0.42
Median age at first event (years) 30.08 28.23 34.52

-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

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Association

Association between endpoint H7_HETEROPHORIA and mortality.

Females

Parameter HR [95% CI] p-value
H7_HETEROPHORIA 1.155 [0.95, 1.41] 0.151
Birth year 0.992 [0.98, 1.0] 0.064

During the follow-up period (1.1.1998 — 31.12.2019), 374 out of 14627 females with H7_HETEROPHORIA died.

Males

Parameter HR [95% CI] p-value
H7_HETEROPHORIA 1.287 [1.06, 1.56] 0.01
Birth year 0.987 [0.98, 1.0] 0.005

During the follow-up period (1.1.1998 — 31.12.2019), 434 out of 10607 males with H7_HETEROPHORIA died.

Mortality risk

Mortality risk for people of age

years, who have H7_HETEROPHORIA.

N-year risk Females Males
1 0.067% 0.226%
5 0.553% 1.478%
10 1.46% 3.997%
15 3.001% 7.387%
20 5.346% 11.783%

Relationships between endpoints

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Index endpoint: H7_HETEROPHORIA – Heterophoria

GWS hits: 2

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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