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Congenital malformations of anterior segment of eye

EFO Endpoint Browser PheWeb

Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE

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 — Q13
  • Cause of death: ICD-10 — Q13

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

325

4. Check minimum number of events

None

325

5. Include endpoints

None

325

6. Filter based on genotype QC (FinnGen only)

292

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q1
Name in latin
Malformationes congenitae segmenti anterioris oculi

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 3928 2171 1751
Only index persons 3225 1828 1397
Unadjusted period prevalence (%)
Whole population 0.06 0.06 0.05
Only index persons 0.06 0.07 0.05
Median age at first event (years)
Whole population 17.73 23.82 10.13
Only index persons 25.88 30.67 19.61

-FinnGen-

Key figures

All Female Male
Number of individuals 292 189 103
Unadjusted period prevalence (%) 0.06 0.07 0.05
Median age at first event (years) 42.10 40.89 44.31

-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

-FinnGen-

Cumulative Incidence Function

No data

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.

Matched cohort

Matched cases
308
Matched controls
3080
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q13.2
ICD-10 Finland
Other congenital malformations of iris
+∞
307.7
251
*
Q13.0
ICD-10 Finland
Coloboma of iris
+∞
25.4
24
*
H57.0
ICD-10 Finland
Anomalies of pupillary function
28.0
15.8
21
8
Q13.1
ICD-10 Finland
Absence of iris
+∞
15.8
15
*
XCK00
NOMESCO Finland
Perimetry
4.9
15.7
37
84
Q13.4
ICD-10 Finland
Other congenital corneal malformations
+∞
13.6
13
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.4
9.1
76
371
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
4.3
8.7
23
57
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.0
8.5
139
885
S01ED51
ATC
timolol, combinations; ophthalmic
3.5
8.5
30
92
Q14.8
ICD-10 Finland
Other congenital malformations of posterior segment of eye
+∞
8.4
8
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
2.8
8.0
42
163
S01ED01
ATC
timolol; ophthalmic
6.4
8.0
20
33
TCG10
NOMESCO Finland
Removal of sutures from cornea
+∞
7.3
7
*
Q12.0
ICD-10 Finland
Congenital cataract
+∞
7.3
7
*
G90.2
ICD-10 Finland
Horner syndrome
30.8
7.2
9
*
Z3229
NOMESCO Finland
Other healthcare associate professional
2.8
7.0
37
144
H40.0
ICD-10 Finland
Glaucoma suspect
3.1
6.8
30
105
XCD00
NOMESCO Finland
Clinical examination of eye in general anaesthesia
41.0
6.8
8
*
K80
ICPC
Cardiac arrhythmia NOS
2.8
6.6
35
136
ZXA10
NOMESCO Finland
Bilateral
2.2
6.6
67
352
R42
ICD-10 Finland
Dizziness and giddiness
2.1
6.4
74
408
WX408
NOMESCO Finland
General anesthesy, balanced
2.0
6.3
88
520
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.4
6.1
45
207
XQ800
NOMESCO Finland
Prick test
2.7
6.0
32
125

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
171
1297
1.72
5.10
8.3
8.0
1.22
1.21
mmol/l
0.91
140
1129
52
292
1.94
4.20
3.5
2.1
386.98
376.41
nmol/l
0.10
47
277
148
1146
1.56
3.62
5.4
5.1
36.70
36.51
g/l
0.15
141
1081
12
31
3.99
3.53
1.8
1.5
—
—
nmol/l
—
0
0
41
229
1.91
3.37
6.6
4.9
0.67
0.61
%
0.07
15
70
123
925
1.55
3.37
2.8
3.2
2.35
2.36
mmol/l
0.20
111
846
125
946
1.54
3.31
8.4
6.9
—
—
—
0
0
150
1186
1.52
3.22
7.9
7.9
1.22
1.22
mmol/l
0.85
143
1105
171
1391
1.52
3.20
8.7
6.9
29.43
28.75
%
0.31
166
1323
42
241
1.86
3.18
6.8
5.4
0.00
0.09
%
0.80
16
64
40
228
1.87
3.09
6.9
5.2
0.07
0.15
%
0.50
15
65
111
832
1.52
3.02
3.4
2.4
54.57
64.86
u/l
0.71
106
770
166
1358
1.48
2.92
8.8
7.0
8.36
8.65
%
0.73
161
1279
165
1351
1.48
2.87
8.8
6.9
3.13
2.82
%
1.01
160
1269
230
2021
1.55
2.78
9.9
8.1
78.30
80.77
u/l
0.39
224
1922
5
6
8.44
2.76
1.0
1.3
—
—
—
0
0
153
1242
1.46
2.74
3.1
2.6
75.83
74.80
nmol/l
0.17
144
1132
164
1351
1.46
2.71
8.8
7.0
0.64
0.67
%
0.29
159
1264
61
408
1.62
2.70
2.6
2.7
92.62
120.78
ug/g
0.26
53
317
12
43
2.86
2.68
3.3
3.5
1.12
2.12
%
0.39
12
38
105
799
1.48
2.59
5.3
4.1
7.40
7.39
ph
0.47
74
565
108
830
1.46
2.52
3.9
2.9
0.00
0.10
estimate
0.52
29
261
40
244
1.73
2.50
6.9
4.9
1.67
0.86
%
0.62
15
81
240
2147
1.53
2.49
5.6
4.4
14.55
14.73
pmol/l
0.51
223
1969
33
191
1.82
2.45
8.2
6.5
7.41
7.42
ph
0.48
27
159
183
1562
1.42
2.36
5.0
5.6
6.50
6.47
mmol/l
0.07
175
1453
49
321
1.63
2.36
1.8
1.5
—
—
—
0
0
178
1515
1.41
2.32
8.3
6.9
1.99
1.91
e9/l
0.53
165
1346
103
796
1.44
2.31
1.5
1.4
0.56
1.07
u/ml
1.64
27
213
46
301
1.62
2.23
1.9
1.8
—
—
—
0
0
34
206
1.73
2.19
1.5
1.3
530.14
351.43
u/ml
0.27
28
191
173
1479
1.39
2.12
8.2
6.8
0.57
0.56
e9/l
0.19
155
1271
135
1112
1.38
2.05
5.3
3.4
0.00
0.00
estimate
-0.00
30
271
116
932
1.39
2.05
4.7
3.8
24.96
32.72
ng/l
0.63
77
614
173
1485
1.38
2.03
8.2
6.8
0.04
0.04
e9/l
0.01
155
1275
111
889
1.39
1.99
3.7
3.1
7.31
7.73
mmol/l
0.42
90
763
9
33
2.78
1.94
8.3
2.1
33.11
32.82
pg
—
9
33
13
58
2.30
1.93
4.2
2.7
4.62
8.40
pmol/l
1.47
13
58
68
501
1.46
1.93
1.5
1.7
490.95
454.20
pmol/l
0.42
55
430
165
1415
1.36
1.91
7.0
7.0
11.40
11.67
umol/l
0.06
159
1337
177
1537
1.36
1.87
8.3
7.1
0.21
0.18
e9/l
2.11
161
1344
6
17
3.58
1.84
1.2
1.1
—
—
—
0
0
258
2390
1.49
1.82
6.0
5.8
38.92
38.53
mmol/mol
0.30
241
2264
105
844
1.37
1.82
6.3
6.9
—
—
—
0
0
25
147
1.76
1.80
1.7
2.3
0.00
0.00
estimate
—
8
53
31
194
1.66
1.80
1.8
1.5
16.65
21.81
iu/l
0.50
25
159
98
781
1.37
1.78
4.3
4.0
9.21
8.79
mg/mmol
0.03
59
487
133
1112
1.35
1.78
15.0
12.3
1.18
1.20
inr
0.14
115
931
97
777
1.36
1.70
3.6
3.3
50.45
45.84
mg/l
0.08
63
510
10
41
2.49
1.66
1.3
1.1
—
—
—
0
0
271
2552
1.52
1.58
5.0
4.6
1.49
1.48
mmol/l
0.10
251
2379
42
293
1.50
1.57
4.9
5.6
7.38
7.38
ph
0.21
22
163
50
362
1.46
1.56
1.3
1.2
—
—
—
0
0
55
406
1.43
1.55
1.7
1.4
308.00
488.28
titre
1.24
20
87
258
2413
1.43
1.50
4.4
4.0
1.26
1.24
mmol/l
0.15
238
2234
24
148
1.67
1.49
10.0
7.5
—
—
—
0
0
282
2687
1.59
1.45
19.9
14.8
21.46
22.49
mg/l
0.19
238
2134
20
118
1.74
1.45
1.5
1.7
—
—
—
0
0
268
2528
1.46
1.44
6.7
5.3
1.84
1.85
mu/l
0.05
248
2352
18
104
1.78
1.40
11.4
8.4
8.61
8.80
kpa
0.17
18
104
271
2565
1.47
1.40
5.2
4.7
4.70
4.64
mmol/l
0.48
251
2408
26
167
1.61
1.40
1.2
1.2
—
—
—
0
0
183
1637
1.29
1.39
10.8
10.4
4.12
4.00
e9/l
0.34
168
1427
273
2590
1.48
1.36
5.7
5.3
2.75
2.72
mmol/l
0.20
251
2413
68
533
1.35
1.35
1.4
1.4
32.41
26.54
iu/ml
0.15
21
163
99
820
1.31
1.35
5.9
3.8
0.00
0.00
estimate
0.50
40
306
290
2788
1.69
1.35
14.3
11.6
26.01
26.28
u/l
0.06
284
2723
9
42
2.18
1.35
1.7
1.7
24.78
29.58
ng/l
—
9
42
262
2472
1.40
1.30
5.3
4.7
5.79
5.81
mmol/l
0.10
237
2287
129
1111
1.28
1.30
1.7
1.9
1.39
1.34
mmol/l
0.23
107
953
10
48
2.12
1.29
1.2
1.1
—
—
—
0
0
50
376
1.39
1.28
3.0
2.3
21.99
22.84
%
0.21
45
354
14
77
1.86
1.27
1.6
1.4
271.50
305.45
ug/g
—
6
45
79
640
1.32
1.26
2.8
3.1
318.19
331.55
umol/l
0.62
73
563
8
36
2.25
1.25
1.9
1.3
—
—
—
0
0
9
45
2.03
1.24
10.4
2.6
—
—
—
0
0
136
1184
1.27
1.24
4.4
3.3
6.11
6.26
ph
0.91
75
647
33
232
1.47
1.21
5.8
3.7
—
—
—
0
0
164
1466
1.25
1.17
5.2
3.6
0.00
0.00
estimate
-0.00
40
325
83
685
1.29
1.15
5.6
4.2
—
—
—
0
0
41
305
1.40
1.13
4.9
3.6
1.68
1.80
%
0.25
35
280
8
40
2.03
1.13
6.4
2.7
—
—
—
0
0
13
73
1.82
1.12
8.8
2.8
7.39
7.42
ph
0.63
13
73
165
1481
1.25
1.12
5.2
3.7
0.00
0.00
estimate
-0.00
39
329
62
494
1.32
1.11
1.4
1.3
19.90
7.81
u/ml
0.43
27
191
14
81
1.76
1.11
1.6
1.4
—
2.35
—
0
11
7
33
2.15
1.06
4.4
3.3
—
—
—
0
0
165
1489
1.23
1.04
5.1
3.7
0.00
0.97
estimate
0.50
37
308
5
108
0.45
1.03
1.6
1.5
—
—
—
0
0
9
50
1.82
0.97
11.1
2.7
4.84
5.07
kpa
—
9
50
9
50
1.82
0.97
11.1
2.7
8.89
8.96
kpa
—
9
50
9
50
1.82
0.97
1.7
1.8
174.44
205.27
pmol/l
—
9
45
85
719
1.25
0.96
2.0
1.5
2.17
2.31
g/l
0.35
56
437
65
533
1.28
0.95
4.0
2.7
515.12
524.98
mosm/kgh2o
0.13
58
467
121
1068
1.22
0.92
2.2
2.1
—
—
—
0
0
6
28
2.16
0.92
1.0
1.1
—
—
—
0
0
20
135
1.51
0.91
6.8
8.2
—
—
—
0
0
28
203
1.42
0.91
3.6
4.1
7.38
7.35
ph
0.92
22
143
285
2759
1.44
0.91
18.0
13.0
—
—
—
0
0
6
112
0.53
0.85
1.5
1.6
—
—
—
0
0
72
607
1.24
0.84
3.9
2.6
8.06
6.95
e6/l
0.22
65
554
6
32
1.89
0.82
1.3
1.5
—
—
—
0
0
75
874
0.81
0.82
1.7
1.5
—
—
—
0
0
92
800
1.21
0.80
4.3
2.9
—
—
—
0
0
14
90
1.58
0.79
1.1
1.2
—
—
—
0
0
121
1083
1.19
0.78
3.2
2.9
—
—
—
0
0
155
1418
1.19
0.77
3.8
3.1
112.85
97.26
ug/l
0.49
143
1324
6
34
1.78
0.76
2.3
4.9
—
—
—
0
0
64
539
1.24
0.76
6.3
5.5
1.90
2.01
ug/l
0.17
57
473
197
1844
1.19
0.74
3.9
3.5
35.93
41.54
u/l
1.11
182
1752
30
230
1.34
0.73
1.5
1.4
—
—
—
0
0
39
311
1.29
0.72
1.2
1.4
—
—
—
0
0
15
101
1.51
0.71
1.0
1.1
1.53
1.57
g/l
0.27
15
101
16
111
1.47
0.67
1.3
1.1
—
—
—
0
0
7
43
1.64
0.67
5.0
5.5
426.43
372.03
umol/l
—
7
37
22
163
1.38
0.66
2.0
2.2
21086.82
5933.84
u/l
—
8
61
122
1106
1.17
0.66
2.2
2.0
93.67
97.06
pmol/l
0.37
63
574
30
234
1.31
0.66
1.2
1.3
166.00
151.87
u/ml
0.10
14
96
141
1293
1.17
0.66
15.4
11.8
0.00
0.00
e9/l
0.82
115
1050
10
62
1.63
0.66
1.4
2.4
—
—
—
0
0
5
29
1.74
0.64
4.0
12.4
11.88
11.30
%
—
5
29
25
191
1.34
0.63
1.3
1.3
—
—
—
0
0
6
103
0.57
0.63
1.3
1.2
—
—
—
0
0
27
209
1.32
0.63
10.2
11.6
25.57
25.03
mmol/l
0.33
27
209
5
30
1.68
0.61
2.4
2.4
45.20
57.16
%
—
5
25
15
105
1.45
0.61
1.0
1.2
0.89
0.90
g/l
0.03
15
105
0
20
0.00
0.60
0.0
6.7
—
100.33
—
0
15
42
347
1.24
0.60
1.5
1.2
—
—
—
0
0
0
22
0.00
0.59
0.0
4.5
—
7.34
—
0
22
82
732
1.16
0.53
1.8
1.6
21.02
20.94
nmol/l
0.02
74
623
33
272
1.24
0.50
1.2
1.2
—
—
—
0
0
188
1785
1.14
0.49
4.3
3.8
—
0.00
—
0
5
47
403
1.20
0.49
1.8
1.6
1084.76
1184.83
nmol/l
0.28
36
303
23
182
1.29
0.48
1.3
1.7
—
—
—
0
0
55
480
1.18
0.47
3.5
4.0
396.85
308.55
ng/l
0.10
34
332
23
183
1.28
0.46
1.3
1.7
—
—
—
0
0
23
183
1.28
0.46
1.3
1.7
—
—
—
0
0
7
50
1.41
0.45
1.6
1.6
—
—
—
0
0
29
239
1.24
0.44
5.0
4.6
2.55
25.16
ug/l
0.69
24
197
23
185
1.26
0.43
1.3
1.7
—
—
—
0
0
31
259
1.22
0.42
1.9
2.1
0.00
0.00
estimate
—
9
63
0
16
0.00
0.41
0.0
1.2
—
207.81
—
0
16
0
17
0.00
0.41
0.0
1.5
—
—
—
0
0
12
88
1.38
0.40
1.3
2.3
1.80
5.50
iu/l
—
5
41
10
71
1.42
0.39
1.8
1.7
—
—
—
0
0
5
35
1.44
0.39
4.0
3.4
58.26
34.38
%
—
5
35
48
422
1.16
0.39
1.7
1.6
—
—
—
0
0
12
89
1.36
0.38
1.3
1.2
—
—
—
0
0
8
113
0.70
0.38
1.4
2.4
—
—
—
0
0
225
2319
0.89
0.37
21.7
19.0
333.73
332.65
g/l
1.06
225
2311
6
41
1.47
0.36
1.3
1.3
—
—
—
0
0
33
283
1.19
0.36
1.8
1.4
—
—
—
0
0
10
73
1.38
0.35
8.7
3.1
55.40
59.69
%
—
10
73
6
45
1.34
0.34
1.2
1.8
—
—
—
0
0
6
45
1.34
0.34
1.2
1.8
—
—
—
0
0
6
45
1.34
0.34
1.2
1.8
—
—
—
0
0
6
45
1.34
0.34
1.2
1.8
—
—
—
0
0
72
659
1.12
0.33
6.0
3.5
1.02
1.02
kg/l
0.69
54
428
6
47
1.28
0.32
1.7
1.2
532.33
299.57
mu/l
—
6
37
11
83
1.34
0.32
1.1
1.3
—
—
—
0
0
38
334
1.16
0.32
2.0
1.8
—
—
—
0
0
16
129
1.25
0.31
1.3
1.4
296.91
257.16
miu/ml
—
5
67
33
289
1.16
0.29
1.5
1.5
—
—
—
0
0
78
724
1.10
0.29
2.6
2.3
2.66
2.86
mg/l
0.41
64
636
12
150
0.79
0.27
1.3
1.1
—
—
—
0
0
29
254
1.16
0.26
8.1
9.5
—
—
—
0
0
57
524
1.11
0.25
2.3
2.7
2.46
2.45
mmol/l
0.45
49
470
24
276
0.86
0.25
1.3
1.3
—
—
—
0
0
12
148
0.80
0.25
1.2
1.7
—
—
—
0
0
18
152
1.20
0.24
1.4
1.7
—
—
—
0
0
12
97
1.25
0.23
7.9
3.1
236.00
173.76
mg/l
—
7
46
15
125
1.21
0.23
1.9
2.0
—
—
—
0
0
20
172
1.17
0.22
1.4
1.7
—
—
—
0
0
10
79
1.27
0.22
1.0
2.1
3.89
3.65
mmol/l
—
10
72
76
714
1.09
0.22
7.9
4.9
—
—
—
0
0
5
41
1.22
0.22
1.2
1.3
—
—
—
0
0
5
41
1.22
0.22
4.4
3.1
1218.80
1123.97
e6/l
—
5
33
133
1278
1.07
0.22
2.7
2.9
—
—
estimate
—
0
0
0
11
0.00
0.21
0.0
1.4
—
—
—
0
0
0
11
0.00
0.21
0.0
2.4
—
—
—
0
0
0
10
0.00
0.21
0.0
2.2
—
—
—
0
0
0
10
0.00
0.21
0.0
3.4
—
0.62
—
0
10
0
10
0.00
0.21
0.0
1.1
—
146.07
—
0
10
0
10
0.00
0.21
0.0
1.5
—
7.45
—
0
5
0
10
0.00
0.21
0.0
1.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.7
—
148.00
—
0
12
0
13
0.00
0.21
0.0
6.7
—
17.94
—
0
13
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
10
80
1.26
0.20
1.6
1.6
41.20
40.56
nmol/l
—
10
75
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
12
143
0.83
0.19
1.4
1.4
—
—
—
0
0
39
358
1.10
0.18
3.7
7.5
105.15
104.61
mmol/l
0.36
39
358
40
434
0.91
0.18
1.6
1.7
—
—
—
0
0
7
58
1.21
0.18
2.3
2.0
—
—
—
0
0
8
72
1.11
0.16
1.5
1.3
—
—
—
0
0
10
83
1.21
0.15
3.7
2.9
—
—
—
0
0
65
617
1.07
0.15
2.0
2.3
0.74
1.19
mg/l
2.02
52
482
39
418
0.92
0.14
3.1
3.1
1.57
2.57
e6/l
0.85
15
199
74
709
1.06
0.13
2.1
2.1
—
—
—
0
0
10
86
1.17
0.11
1.2
2.0
420.10
437.74
mg/l
—
10
81
5
46
1.09
0.09
1.2
1.0
—
—
—
0
0
38
361
1.06
0.09
2.6
2.1
—
—
—
0
0
5
64
0.78
0.08
3.8
3.8
—
—
—
0
0
90
878
1.04
0.07
4.5
3.3
14.14
40.15
e6/l
2.30
72
673
91
888
1.04
0.07
2.4
2.5
—
—
—
0
0
7
80
0.87
0.07
8.7
10.0
—
—
—
0
0
9
85
1.06
0.07
1.1
1.2
—
—
—
0
0
9
87
1.04
0.07
1.6
2.0
—
—
—
0
0
28
266
1.06
0.06
1.9
1.7
3.35
3.42
mmol/l
0.13
21
197
63
613
1.03
0.06
1.9
1.7
—
—
—
0
0
23
220
1.05
0.03
2.8
2.0
6.27
6.16
ph
0.19
11
134
28
289
0.97
0.02
8.4
9.9
7.42
7.42
ph
0.21
18
162
77
762
1.01
0.01
4.4
3.1
0.17
0.34
e6/l
1.19
60
558
33
323
1.02
0.01
3.0
3.1
0.75
0.81
ug/l
0.19
22
210
41
417
0.98
0.01
1.7
1.8
—
—
—
0
0
15
156
0.96
0.00
3.2
2.5
—
—
—
0
0
15
148
1.01
0.00
1.4
1.6
0.29
0.30
mg/l
—
8
63
17
168
1.01
0.00
4.2
4.7
131.71
130.89
g/l
0.05
17
160
103
1034
0.99
0.00
5.0
4.0
102.59
56.73
e6/l
0.23
76
709
13
127
1.02
0.00
1.1
4.3
25.57
21.56
s
—
7
115
28
283
0.99
0.00
8.3
10.1
1.43
0.77
mmol/l
0.41
20
239
12
124
0.97
0.00
2.3
2.1
—
—
—
0
0
0
5
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
4.8
—
4.64
—
0
5
0
5
0.00
0.00
0.0
2.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
13.8
—
0.43
—
0
6
6
61
0.98
-0.00
1.2
1.4
0.65
0.87
nmol/l
—
6
53
0
9
0.00
-0.00
0.0
1.2
—
28.56
—
0
9
0
9
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
70.60
—
0
6
0
6
0.00
-0.00
0.0
2.7
—
1.18
—
0
6
5
59
0.84
-0.00
1.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
161.83
—
0
6
0
6
0.00
-0.00
0.0
9.3
—
—
—
0
0
14
140
1.00
-0.00
1.4
1.1
—
—
—
0
0
15
150
1.00
-0.00
2.5
4.9
0.61
0.62
%
0.02
15
150
6
59
1.02
-0.00
1.0
1.1
—
22.30
—
0
16
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE 1.16 [0.95, 1.41] 0.138
Birth year 0.997 [0.99, 1.01] 0.48

During the follow-up period (1.1.1998 — 31.12.2019), 111 out of 2105 females with Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE died.

Males

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE 1.031 [0.81, 1.31] 0.799
Birth year 0.984 [0.97, 0.99] 0.002

During the follow-up period (1.1.1998 — 31.12.2019), 104 out of 1688 males with Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE.

N-year risk Females Males
1 0.12% 0.199%
5 0.737% 1.156%
10 1.857% 2.918%
15 3.662% 5.273%
20 6.114% 8.716%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_ANTER_SEGMENT_EYE – Congenital malformations of anterior segment of eye

GWS hits: 2

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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