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Amblyopia ex anopsia

DOID EFO Endpoint Browser PheWeb

H7_AMBLYANOPSIA

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 — H53.0
  • Hospital discharge: ICD-9 — 3680A
  • Hospital discharge: ICD-8 — 37720
  • Cause of death: ICD-10 — H53.0
  • Cause of death: ICD-9 — 3680A
  • Cause of death: ICD-8 — 37720

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

1463

4. Check minimum number of events

None

1463

5. Include endpoints

None

1463

6. Filter based on genotype QC (FinnGen only)

1379

Control definitions (FinnGen only)

Control exclude H7_VISUALDISTBLIND

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2
Parent code in ICD-10 H53
Name in latin Amblyopia ex anopsia

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 31190 15645 15478
Only index persons 23884 12205 11679
Unadjusted period prevalence (%)
Whole population 0.44 0.45 0.43
Only index persons 0.45 0.45 0.45
Median age at first event (years)
Whole population 6.33 6.37 6.15
Only index persons 6.77 6.98 6.55

-FinnGen-

Key figures

All Female Male
Number of individuals 1379 853 526
Unadjusted period prevalence (%) 0.31 0.34 0.26
Median age at first event (years) 18.09 12.90 26.50

-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_AMBLYANOPSIA and mortality.

Females

Parameter HR [95% CI] p-value
H7_AMBLYANOPSIA 1.145 [0.96, 1.36] 0.129
Birth year 0.993 [0.98, 1.0] 0.109

During the follow-up period (1.1.1998 — 31.12.2019), 491 out of 12381 females with H7_AMBLYANOPSIA died.

Males

Parameter HR [95% CI] p-value
H7_AMBLYANOPSIA 1.106 [0.9, 1.36] 0.347
Birth year 0.988 [0.98, 1.0] 0.011

During the follow-up period (1.1.1998 — 31.12.2019), 396 out of 12315 males with H7_AMBLYANOPSIA died.

Mortality risk

Mortality risk for people of age

years, who have H7_AMBLYANOPSIA.

N-year risk Females Males
1 0.091% 0.197%
5 0.531% 1.439%
10 1.477% 3.554%
15 3.156% 6.592%
20 5.152% 10.904%

Relationships between endpoints

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Index endpoint: H7_AMBLYANOPSIA – Amblyopia ex anopsia

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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