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Congenital glaucoma

Q17_CONGEN_GLAUC

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

49

4. Check minimum number of events

None

49

5. Include endpoints

None

49

6. Filter based on genotype QC (FinnGen only)

39

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 39 21 18
Unadjusted period prevalence (%) 0.01 0.01 0.01
Median age at first event (years) 46.60 45.13 48.31

-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

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
33
232
2.82
2.17
4.3
3.9
—
—
—
0
0
22
132
2.37
1.98
4.3
6.2
—
—
—
0
0
43
386
+∞
1.62
25.5
26.6
6.52
6.81
e9/l
0.37
43
376
43
386
+∞
1.62
25.5
26.4
4.49
4.49
e12/l
0.01
43
376
43
386
+∞
1.62
25.5
26.5
238.21
252.15
e9/l
0.73
43
379
11
52
2.50
1.61
2.0
2.4
—
—
—
0
0
37
300
2.67
1.49
21.6
22.1
331.51
333.45
g/l
0.57
37
300
16
95
2.09
1.39
3.9
3.5
—
—
—
0
0
8
41
2.16
1.16
1.0
1.2
—
—
—
0
0
16
102
1.91
1.11
8.8
3.1
7.37
7.39
ph
1.04
11
77
17
112
1.86
1.06
2.5
2.6
—
—
—
0
0
23
168
1.79
1.03
8.6
10.1
1.23
1.22
mmol/l
0.65
23
159
37
319
2.14
1.02
4.5
5.2
1.80
2.04
mu/l
0.69
37
290
18
123
1.80
0.99
6.2
3.1
—
—
estimate
—
0
0
18
125
1.76
0.93
1.6
2.1
—
—
—
0
0
20
144
1.73
0.91
2.3
1.9
84.28
93.88
pmol/l
0.49
12
73
20
144
1.73
0.91
6.4
6.9
—
—
—
0
0
32
265
1.81
0.86
7.8
8.8
90.09
93.70
u/l
0.12
32
253
0
27
0.00
0.80
0.0
8.1
—
7.38
—
0
18
7
44
1.70
0.69
1.0
1.3
—
—
—
0
0
17
127
1.56
0.63
4.2
3.2
2.43
2.37
mmol/l
1.28
17
119
9
63
1.54
0.57
2.4
2.2
—
—
—
0
0
17
131
1.49
0.53
3.1
2.1
1.08
1.39
mmol/l
1.67
17
105
22
179
1.47
0.53
3.2
3.1
130.60
104.16
ug/l
0.25
22
169
8
56
1.52
0.46
1.5
1.3
—
—
—
0
0
8
56
1.52
0.46
1.8
1.8
1393.75
1199.96
nmol/l
—
8
46
16
125
1.45
0.46
2.9
5.0
—
—
—
0
0
15
116
1.45
0.45
1.5
4.6
—
—
—
0
0
5
32
1.63
0.44
1.4
1.6
69.86
63.71
g/l
—
5
27
34
306
1.53
0.43
5.5
5.0
1.43
1.42
mmol/l
0.01
34
275
14
108
1.44
0.42
3.2
2.8
—
—
—
0
0
0
15
0.00
0.42
0.0
2.1
—
118.70
—
0
10
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
0
16
0.00
0.42
0.0
1.8
—
—
—
0
0
9
67
1.43
0.42
10.6
9.2
0.98
1.21
mmol/l
—
9
60
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.0
—
—
—
0
0
9
68
1.41
0.41
1.9
1.9
—
—
—
0
0
0
18
0.00
0.41
0.0
2.5
—
0.00
—
0
5
19
157
1.38
0.39
4.3
3.5
6.50
6.22
ph
0.50
13
73
22
187
1.36
0.38
8.5
6.9
52.34
54.63
%
0.28
22
180
22
189
1.34
0.34
7.0
7.0
3.84
3.01
%
1.00
22
177
7
52
1.41
0.33
1.3
3.3
1.37
1.75
%
—
7
45
20
170
1.33
0.33
5.7
5.2
38.33
35.79
g/l
1.18
20
159
34
315
1.38
0.33
6.1
5.6
2.55
2.62
mmol/l
0.20
34
287
22
190
1.32
0.32
7.0
7.0
9.38
8.80
%
0.42
22
179
12
94
1.38
0.32
1.6
1.5
—
—
—
0
0
10
126
0.73
0.29
3.8
3.3
—
—
—
0
0
8
66
1.26
0.29
5.5
10.2
0.70
0.81
mmol/l
—
8
61
12
97
1.33
0.26
4.4
5.5
1.22
2.09
ug/l
0.73
12
83
22
194
1.27
0.26
7.3
6.9
30.27
29.53
%
0.07
22
184
0
11
0.00
0.21
0.0
3.4
—
3.79
—
0
11
0
11
0.00
0.21
0.0
1.1
—
3.87
—
0
11
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
1.2
—
358.92
—
0
12
0
13
0.00
0.21
0.0
3.5
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
12
101
1.26
0.19
1.2
1.5
2.48
2.07
g/l
—
7
51
21
189
1.22
0.19
7.7
6.9
0.84
0.69
%
1.00
21
178
21
190
1.21
0.17
5.5
7.9
23.47
19.98
umol/l
0.11
21
183
6
74
0.78
0.17
1.8
1.8
413.50
475.83
pmol/l
—
6
65
9
79
1.18
0.17
7.3
5.2
—
—
—
0
0
18
161
1.20
0.16
19.8
16.3
1.48
1.29
inr
0.58
18
137
5
44
1.15
0.10
1.0
1.3
—
—
—
0
0
5
61
0.80
0.09
2.4
1.4
—
—
—
0
0
7
82
0.83
0.08
1.3
3.9
351.14
353.34
umol/l
—
7
67
13
119
1.13
0.07
1.8
3.2
—
—
—
0
0
11
100
1.13
0.06
1.7
1.5
24.64
22.38
nmol/l
0.18
11
78
14
148
0.92
0.03
3.9
3.9
32.89
45.18
ng/l
—
9
112
32
313
1.09
0.02
5.5
4.9
5.60
5.87
mmol/l
1.19
32
283
30
307
0.92
0.02
6.1
6.3
37.03
39.01
mmol/mol
0.96
30
282
10
106
0.93
0.01
4.0
2.7
71.20
55.20
u/l
—
10
100
30
295
1.06
0.00
4.4
4.2
1.11
1.15
mmol/l
0.21
30
262
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.7
—
0.54
—
0
7
7
69
1.02
0.00
2.4
1.6
—
—
—
0
0
5
57
0.86
-0.00
1.2
2.2
80.00
108.52
ug/g
—
5
46
0
6
0.00
-0.00
0.0
4.3
—
2.67
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.5
—
6.62
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
36.54
—
0
5
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
168.33
—
0
6
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1.00
—
0
5
0
6
0.00
-0.00
0.0
1.8
—
208.00
—
0
6
0
6
0.00
-0.00
0.0
4.5
—
125.17
—
0
6
0
5
0.00
-0.00
0.0
1.2
—
11.80
—
0
5
0
6
0.00
-0.00
0.0
1.0
—
168.17
—
0
6
5
49
1.02
-0.00
2.4
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
1.49
—
0
5
15
150
1.00
-0.00
2.9
3.3
—
—
estimate
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
5
51
0.98
-0.00
9.8
14.6
25.20
25.06
mmol/l
—
5
51
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.0
—
8.05
—
0
6
0
6
0.00
-0.00
0.0
1.3
—
88.67
—
0
6
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0

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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