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Colour vision deficiencies

DOID Endpoint Browser PheWeb

H7_COULOURVISDEF

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 — H53.5
  • Hospital discharge: ICD-9 — 3685
  • Hospital discharge: ICD-8 — 37730
  • Cause of death: ICD-10 — H53.5
  • Cause of death: ICD-9 — 3685
  • Cause of death: ICD-8 — 37730

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

148

4. Check minimum number of events

None

148

5. Include endpoints

None

148

6. Filter based on genotype QC (FinnGen only)

141

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 Defectus visus colorum

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 2974 310 2662
Only index persons 2874 297 2577
Unadjusted period prevalence (%)
Whole population 0.07 0.01 0.07
Only index persons 0.09 0.01 0.10
Median age at first event (years)
Whole population 16.77 34.44 14.70
Only index persons 16.73 34.17 14.72

-FinnGen-

Key figures

All Female Male
Number of individuals 141 34 107
Unadjusted period prevalence (%) 0.04 0.01 0.05
Median age at first event (years) 21.81 39.47 16.20

-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

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Association

Association between endpoint H7_COULOURVISDEF and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
H7_COULOURVISDEF 1.125 [0.78, 1.63] 0.534
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 2375 males with H7_COULOURVISDEF died.

Mortality risk

Mortality risk for people of age

years, who have H7_COULOURVISDEF.

N-year risk Females Males
1 No data 0.258%
5 No data 1.258%
10 No data 3.145%
15 No data 6.123%
20 No data 10.506%

Relationships between endpoints

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Index endpoint: H7_COULOURVISDEF – Colour vision deficiencies

GWS hits: 3

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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