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Congenital glaucoma

Q17_CONGEN_GLAUC

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 Q15.0
  • Cause of death: ICD-10 Q15.0

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

43

4. Check minimum number of events

None

43

5. Include endpoints

None

43

6. Filter based on genotype QC (FinnGen only)

43

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF6v3

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 427 189 235
Only index persons 351 158 193
Unadjusted period prevalence (%)
Whole population 0.01 0.01 0.01
Only index persons 0.01 0.01 0.01
Median age at first event (years)
Whole population 20.21 29.94 11.72
Only index persons 23.28 30.94 17.01

-FinnGen-

Key figures

All Female Male
Number of individuals 43 22 21
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 44.94 43.80 46.13

-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
cases
controls
unit
-log10(p)
N cases
N controls
31
213
2.63
2.11
3.9
3.6
—
—
—
0
0
11
48
2.74
1.89
2.0
2.4
—
—
—
0
0
43
382
+∞
1.84
21.9
22.4
238.3
250.9
e9/l
0.64
43
372
43
382
+∞
1.84
21.9
22.4
4.5
4.5
e12/l
0.10
43
368
43
382
+∞
1.84
21.9
22.5
6.5
6.8
e9/l
0.28
43
369
43
382
+∞
1.84
21.9
22.3
88.6
89.4
fl
0.38
43
374
43
382
+∞
1.84
21.9
22.5
131.0
133.3
g/l
0.47
43
374
43
382
+∞
1.84
21.9
22.3
29.4
29.8
pg
0.66
43
374
18
103
2.29
1.76
4.6
7.0
—
—
—
0
0
37
295
2.82
1.66
19.1
19.4
331.4
333.4
g/l
0.61
37
295
18
115
1.97
1.27
5.8
3.0
—
—
—
0
0
16
100
1.96
1.18
2.3
2.6
—
—
—
0
0
22
154
1.88
1.16
8.5
9.7
1.2
1.2
mmol/l
0.54
22
146
38
329
2.33
1.07
16.8
16.8
37.6
39.4
%
0.62
31
250
19
131
1.81
1.02
5.9
6.5
—
—
—
0
0
14
88
1.88
1.00
3.8
3.3
—
—
—
0
0
12
73
1.89
0.94
2.8
1.7
1.2
1.3
mmol/l
0.35
12
59
17
118
1.73
0.87
2.1
1.8
77.2
91.8
pmol/l
—
10
57
16
110
1.72
0.84
2.8
5.0
—
—
—
0
0
9
55
1.80
0.80
2.2
2.3
—
—
—
0
0
16
115
1.62
0.70
1.6
2.1
—
—
—
0
0
0
23
0.00
0.60
0.0
8.9
—
—
—
0
0
6
36
1.77
0.59
1.0
1.2
—
—
—
0
0
15
112
1.52
0.54
4.1
3.2
2.4
2.4
mmol/l
0.62
15
97
12
87
1.53
0.49
1.4
5.1
—
—
—
0
0
27
231
1.45
0.48
5.5
4.6
—
—
—
0
0
8
56
1.52
0.46
1.8
1.8
1393.8
1200.0
nmol/l
—
8
46
21
174
1.40
0.43
6.5
6.5
3.8
3.0
%
0.92
21
163
21
175
1.39
0.42
7.8
6.4
53.6
54.4
%
0.07
21
166
21
175
1.39
0.42
6.5
6.6
9.4
8.5
%
0.66
21
165
18
146
1.40
0.42
3.1
2.8
138.0
90.7
ug/l
0.43
18
138
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
5
76
0.61
0.40
1.4
3.7
346.2
360.1
umol/l
—
5
61
21
178
1.35
0.36
6.5
6.6
29.3
29.8
%
0.04
21
167
8
107
0.69
0.34
3.6
2.8
—
—
—
0
0
7
51
1.44
0.34
1.4
1.2
—
—
—
0
0
12
94
1.38
0.32
3.6
4.8
1.2
2.2
ug/l
0.75
12
79
16
132
1.34
0.32
4.4
3.4
—
—
—
0
0
20
171
1.32
0.31
6.8
6.5
0.8
0.7
%
1.03
20
161
11
87
1.36
0.28
1.5
1.5
—
—
—
0
0
32
295
1.33
0.27
4.7
4.2
1.4
1.4
mmol/l
0.09
32
261
5
40
1.28
0.23
1.0
1.2
—
—
—
0
0
5
41
1.25
0.23
2.2
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
—
—
0
0
0
11
0.00
0.21
0.0
2.1
—
—
—
0
0
0
11
0.00
0.21
0.0
3.4
—
3.8
—
0
11
0
11
0.00
0.21
0.0
2.4
—
113.2
—
0
6
0
11
0.00
0.21
0.0
2.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
322.5
—
0
10
0
10
0.00
0.21
0.0
2.6
—
13.7
—
0
5
0
12
0.00
0.21
0.0
1.3
—
0.3
—
0
12
0
12
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
0
13
0.00
0.21
0.0
3.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.5
—
1.1
—
0
13
7
60
1.20
0.19
2.3
1.5
—
—
—
0
0
7
60
1.20
0.19
2.1
1.8
—
—
—
0
0
7
61
1.18
0.19
5.4
10.2
0.7
0.8
mmol/l
—
7
56
5
67
0.71
0.18
1.8
1.7
433.8
494.6
pmol/l
—
5
58
8
69
1.20
0.18
1.5
1.4
24.4
21.4
nmol/l
—
8
54
15
131
1.22
0.17
10.5
8.2
1.3
1.2
inr
—
7
41
8
71
1.16
0.17
7.6
5.0
—
—
—
0
0
19
171
1.20
0.16
5.7
7.5
25.1
19.7
umol/l
0.16
19
165
32
304
1.21
0.13
5.3
4.6
2.6
2.7
mmol/l
0.31
32
271
27
286
0.85
0.13
5.4
5.7
37.6
39.5
mmol/mol
0.79
27
261
32
305
1.19
0.12
4.0
4.4
1.7
2.0
mu/l
0.97
32
271
5
47
1.07
0.10
9.6
13.8
25.2
24.7
mmol/l
—
5
47
7
63
1.13
0.09
12.7
9.0
1.0
1.2
mmol/l
—
7
57
9
85
1.07
0.07
6.2
3.2
—
—
—
0
0
12
109
1.14
0.07
1.9
3.1
—
—
—
0
0
24
251
0.90
0.06
3.8
3.9
14.7
14.7
pmol/l
0.03
24
229
14
134
1.07
0.01
3.1
3.7
32.9
44.6
ng/l
—
9
100
30
299
1.01
0.00
4.9
4.4
5.7
5.8
mmol/l
0.61
30
269
15
151
0.99
0.00
6.3
5.0
37.4
35.9
g/l
0.39
15
142
10
96
1.05
0.00
3.7
2.6
71.2
55.9
u/l
—
10
90
29
286
1.04
0.00
4.0
3.8
1.1
1.2
mmol/l
0.39
29
251
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
88.7
—
0
6
0
6
0.00
0.00
0.0
1.0
—
168.3
—
0
6
0
5
0.00
0.00
0.0
1.6
—
175.0
—
0
5
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
3.9
—
0
9
0
5
0.00
0.00
0.0
1.0
—
154.2
—
0
5
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
52
0.96
0.00
2.2
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
4.0
—
2.7
—
0
6
0
5
0.00
0.00
0.0
1.2
—
11.8
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
5.3
—
7.2
—
0
6
0
9
0.00
0.00
0.0
12.4
—
—
—
0
0
0
5
0.00
0.00
0.0
4.2
—
148.4
—
0
5

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_GLAUC and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_GLAUC.

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_GLAUC – Congenital glaucoma

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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