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Congenital ectropion

Q17_CONGEN_ECTRO

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 Q10.1
  • Cause of death: ICD-10 Q10.1

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

6

4. Check minimum number of events

None

6

5. Include endpoints

None

6

6. Filter based on genotype QC (FinnGen only)

6

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

First used in FinnGen datafreeze
DF6v3

Case counts by codes

FinnGen case counts by registry codes:

Not enough data for upset plot.

Not enough data for upset table.

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 90 40 50
Only index persons 76 33 43
Unadjusted period prevalence (%)
Whole population 0.00 0.00 0.00
Only index persons 0.00 0.00 0.00
Median age at first event (years)
Whole population - 3.10 5.95
Only index persons 5.23 4.06 6.13

-FinnGen-

Key figures

All Female Male
Number of individuals 6 - -
Unadjusted period prevalence (%) 0.00 - -
Median age at first event (years) 25.09 - -

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
unit
cases
controls
-log10(p)
N cases
N controls
(3021601) Nitrite [Presence] in Urine by Test strip
0
23
0.00
1.08
0.0
4.0
—
0.0
—
0
5
(3009261) Glucose [Presence] in Urine by Test strip
0
23
0.00
1.08
0.0
2.9
—
0.0
—
0
5
(3035350) Ketones [Presence] in Urine by Test strip
0
22
0.00
0.78
0.0
2.8
—
0.0
—
0
5
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
0
16
0.00
0.49
0.0
3.1
—
—
—
0
0
(3015736) pH of Urine
0
15
0.00
0.49
0.0
2.7
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
0
17
0.00
0.49
0.0
2.6
—
6.5
—
0
11
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
0
17
0.00
0.49
0.0
1.3
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
0
14
0.00
0.48
0.0
2.5
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
0
10
0.00
0.24
0.0
2.9
—
0.0
—
0
5
(3033658) Prothrombin time (PT) actual/Normal
0
12
0.00
0.23
0.0
3.3
—
87.2
—
0
12
(3026008) Bacteria identified in Urine by Culture
0
12
0.00
0.23
0.0
2.5
—
—
—
0
0
(3022145) Colonoscopy Study observation
0
9
0.00
0.23
0.0
1.3
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
0
13
0.00
0.23
0.0
2.8
—
—
—
0
0
(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
2.8
—
—
—
0
0
(4035726)
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
0
6
0.00
0.00
0.0
3.0
—
30.1
—
0
6
(3026782) Osmolality of Urine
0
6
0.00
0.00
0.0
2.5
—
513.8
—
0
6
(3004716) Salmonella sp identified in Stool by Organism specific culture
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3013139) Helicobacter pylori Ag [Presence] in Stool
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection
0
7
0.00
0.00
0.0
3.7
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
6
53
+∞
0.00
40.0
8.6
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
0
7
0.00
0.00
0.0
2.4
—
5.5
—
0
7
(3020961) Endomysium IgA Ab [Titer] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3008898) HLA-B27 [Presence]
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
0
8
0.00
0.00
0.0
3.0
—
—
—
0
0
(3050129) First trimester maternal screen panel - Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_ECTRO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_ECTRO.

N-year risk Females Males
1 No data No data
5 No data No data
10 No data No data
15 No data No data
20 No data No data

Relationships between endpoints

Index endpoint: Q17_CONGEN_ECTRO – Congenital ectropion

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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