No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
170 |
4. Check minimum number of eventsNone |
170 |
5. Include endpointsNone |
170 |
6. Filter based on genotype QC (FinnGen only) |
170 |
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
Similar endpoints
↥List of similar endpoints to
Colour vision deficiencies
based on the number of shared cases.
Similar with more cases:
- Visual disturbances
- Visual disturbances and blindness
- Diseases of the eye and adnexa
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-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 | 170 | 43 | 127 |
| Unadjusted period prevalence (%) | 0.05 | 0.01 | 0.06 |
| Median age at first event (years) | 22.39 | 39.45 | 16.61 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 148
- Matched controls
- 1480
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
H53.5
ICD-10 Finland
Colour vision deficiencies
13779.1
184.5
137
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
6.8
12.6
33
60
H53.1
ICD-10 Finland
Subjective visual disturbances
33.1
11.9
15
5
37730
ICD-8 Finland
Other diseases of retina and optic nerve, Achromatopsia
+∞
11.6
11
*
H35.5
ICD-10 Finland
Hereditary retinal dystrophy
+∞
10.5
10
*
XCK00
NOMESCO Finland
Perimetry
9.9
8.8
17
19
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
+∞
6.3
6
*
-48
ICPC
Clarification/discussion RFE/demand
8.3
6.3
13
17
Mortality – FinRegistry
↥Association
Association between endpoint H7_COULOURVISDEF and mortality.
Females
No dataMales
| 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
↥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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