Congenital malformations of anterior segment of eye

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

519972

1. Apply sex-specific rule

None

519972

2. Check conditions

None

519972

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.

304

4. Check minimum number of events

None

304

5. Include endpoints

None

304

6. Filter based on genotype QC (FinnGen only)

287

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 287 187 100
Unadjusted period prevalence (%) 0.06 0.07 0.05
Median age at first event (years) 41.63 40.35 44.02

-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
304
Matched controls
3040
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q13.2
ICD-10 Finland
Other congenital malformations of iris
+∞
320.4
248
*
Q13.0
ICD-10 Finland
Coloboma of iris
+∞
25.4
24
*
Q13.1
ICD-10 Finland
Absence of iris
+∞
15.8
15
*
XCK00
NOMESCO Finland
Perimetry
4.9
15.7
37
84
H57.0
ICD-10 Finland
Anomalies of pupillary function
25.2
14.0
19
8
Q13.4
ICD-10 Finland
Other congenital corneal malformations
+∞
12.6
12
*
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
2.1
8.8
134
835
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.4
8.7
72
351
XCW99
NOMESCO Finland
Other investigative procedure of eye
2.9
8.4
42
159
Q14.8
ICD-10 Finland
Other congenital malformations of posterior segment of eye
+∞
8.4
8
*
S01ED01
ATC
timolol; ophthalmic
6.8
8.3
20
31
K80
ICPC
Cardiac arrhythmia NOS
3.1
7.5
32
110
R42
ICD-10 Finland
Dizziness and giddiness
2.2
7.5
71
364
H20.0
ICD-10 Finland
Acute and subacute iridocyclitis
4.0
7.4
21
55
Q12.0
ICD-10 Finland
Congenital cataract
+∞
7.3
7
*
S01ED51
ATC
timolol, combinations; ophthalmic
3.4
7.3
27
85
G90.2
ICD-10 Finland
Horner syndrome
30.8
7.2
9
*
H40.0
ICD-10 Finland
Glaucoma suspect
3.2
6.9
28
94
XCD00
NOMESCO Finland
Clinical examination of eye in general anaesthesia
41.0
6.8
8
*
Z3229
NOMESCO Finland
Other healthcare associate professional
2.7
6.6
36
143
WX408
NOMESCO Finland
General anesthesy, balanced
2.0
6.5
88
515
TCG10
NOMESCO Finland
Removal of sutures from cornea
+∞
6.3
6
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.5
6.1
42
186
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.3
6.1
50
241

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
155
1140
1.73
5.25
8.1
7.5
1.22
1.22
mmol/l
0.06
126
976
136
989
1.68
4.63
5.2
4.7
36.73
36.36
g/l
0.31
128
927
13
29
4.63
4.30
1.5
1.4
—
—
nmol/l
—
0
0
46
246
2.03
4.27
3.5
2.0
377.93
368.26
nmol/l
0.08
41
230
162
1263
1.61
3.99
7.7
6.3
30.01
29.11
%
0.42
156
1191
140
1056
1.60
3.95
7.7
7.3
1.22
1.22
mmol/l
0.20
134
975
36
181
2.12
3.93
6.4
4.8
0.00
0.04
%
0.80
13
56
152
1179
1.58
3.75
7.7
6.4
0.66
0.66
%
0.06
146
1099
220
1863
1.65
3.74
8.6
7.1
78.09
80.30
u/l
0.32
213
1750
157
1229
1.57
3.71
8.0
6.5
8.20
8.41
%
0.41
151
1153
156
1222
1.57
3.66
7.7
6.2
3.07
2.79
%
0.88
150
1144
36
189
2.03
3.52
6.4
4.7
0.07
0.16
%
0.46
14
63
35
182
2.04
3.51
6.4
4.4
0.58
0.48
%
0.13
12
60
12
32
3.86
3.43
1.6
1.4
—
—
—
0
0
158
1254
1.54
3.41
7.3
6.0
56.32
56.33
%
0.00
152
1182
166
1344
1.52
3.19
7.3
6.2
2.18
1.92
e9/l
1.05
151
1210
133
1029
1.52
3.16
2.8
2.3
75.97
75.11
nmol/l
0.12
125
927
161
1304
1.50
3.03
7.2
6.2
0.58
0.56
e9/l
0.26
142
1137
31
163
2.00
3.03
1.3
1.3
591.88
327.28
u/ml
0.43
26
147
55
348
1.71
3.02
2.3
2.5
120.26
123.33
ug/g
0.02
47
271
161
1307
1.49
2.98
7.2
6.2
0.04
0.04
e9/l
0.05
142
1139
165
1347
1.49
2.97
7.3
6.5
0.21
0.18
e9/l
2.01
148
1195
46
281
1.75
2.85
1.6
1.4
—
—
—
0
0
36
204
1.87
2.84
6.4
4.5
1.57
0.78
%
0.56
14
78
95
698
1.53
2.82
5.3
3.8
7.40
7.40
ph
0.06
25
135
108
823
1.48
2.67
4.1
3.6
25.00
32.61
ng/l
0.53
67
522
152
1239
1.45
2.65
9.3
6.7
—
—
—
0
0
97
724
1.50
2.65
3.3
2.3
55.55
59.93
u/l
0.28
92
665
94
702
1.49
2.55
3.3
2.9
6.97
7.68
mmol/l
0.84
75
602
104
797
1.46
2.47
2.8
3.2
2.35
2.36
mmol/l
0.32
92
711
6
13
4.68
2.28
1.2
1.1
—
—
—
0
0
12
48
2.56
2.21
4.3
2.5
—
—
—
0
0
195
1698
1.41
2.18
5.3
4.1
—
—
—
0
0
219
1947
1.45
2.18
5.0
3.9
14.52
14.66
pmol/l
0.34
203
1766
81
604
1.46
2.18
3.1
3.1
52.49
47.37
mg/l
0.08
54
398
84
631
1.46
2.18
3.8
3.7
9.76
8.40
mg/mmol
0.10
52
396
90
686
1.44
2.16
1.4
1.3
0.54
0.94
u/ml
1.77
24
180
123
993
1.40
2.14
14.3
12.2
1.18
1.22
inr
0.25
40
320
150
1253
1.39
2.13
6.5
6.5
11.23
11.46
umol/l
0.05
145
1173
41
264
1.64
2.12
2.0
1.8
—
—
—
0
0
10
37
2.76
2.09
3.7
3.4
1.25
1.22
%
—
10
32
10
37
2.76
2.09
1.2
1.1
—
—
—
0
0
175
1504
1.39
2.07
9.6
9.5
4.09
4.00
e9/l
0.21
159
1317
26
148
1.83
2.06
1.7
1.5
16.68
22.85
iu/l
0.52
21
123
166
1416
1.38
2.05
4.9
5.2
6.51
6.50
mmol/l
0.02
158
1294
255
2346
1.54
2.04
5.7
4.5
1.87
2.37
mu/l
0.47
234
2151
8
26
3.13
2.03
8.5
1.5
33.13
33.23
pg
—
8
26
62
445
1.49
2.01
1.4
1.7
496.61
449.30
pmol/l
0.55
51
379
35
221
1.66
1.96
5.0
5.9
1.42
1.73
mmol/l
0.17
30
171
9
33
2.78
1.94
5.0
3.3
—
—
—
0
0
9
34
2.70
1.88
1.3
1.1
—
—
—
0
0
8
28
2.91
1.87
6.5
1.6
—
—
—
0
0
248
2282
1.47
1.85
4.0
3.7
1.27
1.25
mmol/l
0.19
229
2102
17
88
1.99
1.78
1.6
1.6
—
—
—
0
0
272
2557
1.61
1.77
17.6
12.7
20.18
22.01
mg/l
0.41
225
1937
256
2377
1.49
1.75
4.3
4.0
1.48
1.48
mmol/l
0.00
236
2198
5
13
3.89
1.72
2.2
3.4
23.20
25.23
umol/l
—
5
13
87
686
1.38
1.69
4.0
3.0
—
—
—
0
0
17
91
1.92
1.64
11.5
9.3
8.81
8.90
kpa
0.08
17
91
256
2391
1.45
1.56
4.4
4.0
4.72
4.66
mmol/l
0.43
237
2226
45
320
1.48
1.54
1.3
1.2
—
—
—
0
0
279
2655
1.62
1.51
16.4
11.8
—
—
—
0
0
9
38
2.41
1.47
1.9
3.4
—
—
—
0
0
25
157
1.65
1.46
1.2
1.2
—
—
—
0
0
57
429
1.40
1.45
1.3
1.3
69.27
28.09
iu/ml
0.58
17
140
75
591
1.36
1.45
5.6
4.0
—
—
—
0
0
234
2163
1.36
1.43
5.5
5.1
39.31
39.05
mmol/mol
0.16
217
2030
83
666
1.34
1.42
2.1
2.2
179.56
179.87
u/l
0.00
78
628
88
713
1.33
1.41
3.9
2.7
—
—
—
0
0
7
29
2.45
1.40
3.9
3.3
—
—
—
0
0
280
2674
1.60
1.40
12.1
9.7
26.73
26.19
u/l
0.12
274
2581
37
259
1.49
1.37
4.8
3.3
1.64
1.75
%
0.21
32
236
6
23
2.64
1.37
1.0
1.2
—
—
—
0
0
82
661
1.33
1.36
6.1
3.6
0.00
0.00
estimate
0.50
35
257
42
304
1.44
1.33
2.8
2.1
22.83
23.36
%
0.10
34
264
6
24
2.53
1.31
2.8
2.3
—
—
—
0
0
5
18
2.81
1.29
4.0
14.1
11.88
12.31
%
—
5
18
135
1175
1.27
1.24
12.1
9.5
0.00
0.00
e9/l
0.82
109
961
257
2427
1.38
1.23
4.8
4.4
2.79
2.77
mmol/l
0.13
236
2238
21
133
1.62
1.21
11.1
7.9
—
—
—
0
0
32
224
1.48
1.20
5.6
3.6
—
—
—
0
0
115
985
1.27
1.20
2.1
2.0
—
—
—
0
0
12
64
1.91
1.19
1.6
1.4
264.40
316.77
ug/g
—
5
38
79
645
1.30
1.19
6.8
7.5
—
—
—
0
0
62
489
1.34
1.19
3.9
2.7
524.50
542.50
mosm/kgh2o
0.26
56
415
134
1172
1.26
1.16
3.2
2.7
105.20
94.86
ug/l
0.30
123
1076
63
502
1.32
1.13
3.8
2.4
9.84
7.35
e6/l
0.44
56
452
203
1866
1.26
1.13
5.3
4.0
8.66
10.74
mm/h
2.98
193
1703
180
1632
1.25
1.13
3.9
3.4
—
—
—
0
0
8
41
1.98
1.09
11.1
2.5
—
—
—
0
0
70
569
1.30
1.09
2.8
2.9
327.95
5263.97
umol/l
2.27
64
491
74
607
1.29
1.08
4.6
3.6
—
—
—
0
0
9
47
1.94
1.03
9.6
4.1
52.78
57.26
%
—
9
47
20
131
1.56
1.02
6.8
8.4
—
—
—
0
0
113
982
1.24
1.01
4.4
3.1
5.50
5.86
ph
—
6
80
52
411
1.32
0.99
3.3
3.8
419.96
270.43
ng/l
0.17
32
283
293
2855
1.73
0.98
24.9
18.9
40.16
40.31
%
0.16
278
2704
74
615
1.27
0.97
1.9
1.4
2.17
2.27
g/l
0.21
50
368
9
50
1.82
0.97
11.1
2.7
8.89
8.96
kpa
—
9
50
9
50
1.82
0.97
11.1
2.7
4.84
5.07
kpa
—
9
50
7
37
1.91
0.94
3.6
7.7
69.71
67.56
%
—
7
37
44
343
1.33
0.93
1.8
1.4
296.47
447.78
titre
0.83
17
72
6
28
2.17
0.92
1.3
1.4
—
—
—
0
0
66
545
1.27
0.92
5.5
3.4
1.02
1.02
kg/l
0.01
11
69
5
103
0.48
0.91
1.6
1.4
—
—
—
0
0
5
103
0.48
0.91
1.6
1.4
—
—
—
0
0
135
1208
1.21
0.89
6.2
4.6
0.00
0.00
estimate
-0.00
34
259
53
428
1.29
0.88
1.3
1.3
24.20
8.27
u/ml
0.47
22
165
135
1210
1.21
0.87
5.1
3.4
0.00
0.00
estimate
-0.00
35
270
38
296
1.32
0.82
1.4
1.2
—
—
—
0
0
181
1676
1.20
0.80
3.5
3.2
37.20
41.47
u/l
0.64
168
1577
0
24
0.00
0.79
0.0
1.3
—
—
—
0
0
105
928
1.20
0.77
2.8
2.6
—
—
—
0
0
6
34
1.78
0.76
2.3
4.5
—
—
—
0
0
45
364
1.28
0.75
1.7
1.5
—
—
—
0
0
9
55
1.66
0.74
1.4
2.3
—
—
—
0
0
244
2332
1.23
0.74
4.7
4.1
5.79
5.81
mmol/l
0.13
219
2138
6
107
0.55
0.74
1.5
1.5
—
—
—
0
0
27
203
1.36
0.74
8.0
9.8
—
—
—
0
0
7
39
1.81
0.73
4.4
4.8
406.86
377.19
umol/l
—
7
32
31
239
1.33
0.72
1.5
1.4
—
—
—
0
0
27
204
1.36
0.72
1.3
1.3
174.00
158.51
iu/ml
0.10
12
84
7
41
1.72
0.70
3.3
8.0
—
—
—
0
0
134
1221
1.17
0.69
5.0
3.4
0.00
0.00
estimate
-0.00
34
250
7
42
1.68
0.69
1.0
1.4
—
—
—
0
0
38
305
1.28
0.68
2.0
1.8
—
—
—
0
0
7
44
1.60
0.65
1.9
2.7
28.00
37.56
umol/l
—
7
39
128
1166
1.17
0.65
2.5
2.6
—
—
—
0
0
58
493
1.22
0.64
5.3
4.8
1.98
2.09
ug/l
0.16
50
430
5
30
1.68
0.61
2.0
1.2
—
—
—
0
0
5
30
1.68
0.61
3.8
3.0
58.06
32.06
%
—
5
30
98
880
1.17
0.59
2.1
1.8
91.44
96.54
pmol/l
0.60
55
446
23
176
1.33
0.58
11.1
11.0
25.90
25.12
mmol/l
0.52
23
176
27
213
1.29
0.56
4.7
4.5
2.44
27.21
ug/l
0.68
22
177
9
62
1.47
0.53
1.1
1.3
—
—
—
0
0
9
62
1.47
0.53
1.9
1.7
—
—
—
0
0
21
163
1.31
0.50
1.1
1.2
—
—
—
0
0
46
394
1.20
0.48
1.8
1.6
1084.76
1183.10
nmol/l
0.27
36
295
73
651
1.16
0.48
1.5
1.7
1.25
1.34
mmol/l
0.63
61
562
10
68
1.49
0.47
2.1
2.8
—
—
—
0
0
29
237
1.25
0.47
1.6
1.4
—
—
—
0
0
24
192
1.27
0.46
3.6
4.1
—
—
—
0
0
15
112
1.36
0.45
11.9
14.7
—
—
—
0
0
12
86
1.41
0.45
1.2
1.2
—
—
—
0
0
12
86
1.41
0.45
7.9
3.2
0.24
0.17
g/l
—
7
40
11
78
1.43
0.43
2.3
1.9
0.60
4.11
ug/l
0.50
11
70
6
92
0.65
0.43
1.3
1.2
—
—
—
0
0
12
87
1.39
0.43
1.7
5.6
—
—
—
0
0
5
33
1.52
0.41
1.2
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
204.53
—
0
15
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
84
766
1.13
0.41
2.3
2.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
189.81
—
0
17
0
18
0.00
0.40
0.0
1.3
—
—
—
0
0
58
517
1.15
0.39
1.6
1.4
21.63
20.97
nmol/l
0.12
53
439
18
142
1.28
0.39
2.2
2.2
15563.09
2882.69
u/l
—
7
51
32
271
1.20
0.39
1.3
1.3
—
—
—
0
0
0
19
0.00
0.39
0.0
4.8
—
—
—
0
0
9
68
1.33
0.38
1.0
2.0
4.00
3.70
mmol/l
—
9
61
18
143
1.28
0.38
1.3
1.6
—
—
—
0
0
9
69
1.31
0.37
1.4
1.8
—
—
—
0
0
71
779
0.88
0.37
1.7
1.5
—
—
—
0
0
5
37
1.36
0.37
2.0
1.7
—
—
—
0
0
18
144
1.27
0.36
1.3
1.6
—
—
—
0
0
18
144
1.27
0.36
1.3
1.6
—
—
—
0
0
69
627
1.13
0.36
2.0
2.0
—
—
—
0
0
6
42
1.44
0.35
6.2
4.2
—
—
—
0
0
6
43
1.40
0.35
2.0
2.0
—
—
—
0
0
6
43
1.40
0.35
1.7
1.6
—
—
—
0
0
6
44
1.37
0.34
1.0
1.5
—
—
—
0
0
6
44
1.37
0.34
1.7
1.2
—
—
—
0
0
18
145
1.26
0.34
1.3
1.6
—
—
—
0
0
60
543
1.13
0.33
2.1
2.3
0.76
1.17
mg/l
1.53
48
421
20
164
1.23
0.33
1.5
1.5
—
—
—
0
0
79
728
1.12
0.33
4.2
3.0
15.15
43.95
e6/l
2.09
64
563
32
279
1.16
0.30
3.7
7.3
104.91
104.68
mmol/l
0.11
32
279
32
364
0.86
0.29
1.6
1.6
—
—
—
0
0
58
530
1.12
0.28
1.9
1.7
—
—
—
0
0
32
363
0.87
0.28
3.1
2.8
1.57
2.59
e6/l
0.87
15
196
23
268
0.85
0.28
1.3
1.3
—
—
—
0
0
27
234
1.17
0.27
1.3
1.2
—
—
—
0
0
16
192
0.82
0.26
7.6
3.2
—
—
—
0
0
16
132
1.22
0.26
4.3
4.8
131.19
129.31
g/l
0.11
16
127
9
74
1.22
0.25
1.2
2.0
430.78
418.99
mg/l
—
9
69
11
136
0.80
0.23
1.2
1.7
—
—
—
0
0
5
38
1.32
0.23
4.2
2.7
1.22
1.08
e9/l
—
5
31
10
124
0.80
0.22
1.5
1.4
—
—
—
0
0
16
135
1.20
0.22
1.3
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
3.4
—
—
—
0
0
0
10
0.00
0.21
0.0
1.7
—
149.40
—
0
10
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
2.2
—
—
—
0
0
8
105
0.76
0.21
1.4
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
7.1
—
—
—
0
0
14
117
1.21
0.21
1.4
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
24
214
1.13
0.18
1.5
1.4
—
—
—
0
0
64
604
1.08
0.17
2.4
2.2
2.80
3.08
mg/l
0.55
51
525
219
2229
0.94
0.17
19.4
16.5
333.38
332.71
g/l
0.55
219
2218
45
419
1.09
0.16
2.7
2.8
2.46
2.44
mmol/l
0.49
37
365
8
71
1.13
0.16
3.7
2.9
—
—
—
0
0
25
227
1.11
0.14
2.8
2.9
0.22
0.22
g/l
0.08
25
213
35
324
1.09
0.14
2.5
2.1
—
—
—
0
0
90
869
1.05
0.12
4.7
3.6
113.36
52.03
e6/l
0.28
67
595
10
116
0.86
0.12
1.0
1.1
—
—
—
0
0
35
373
0.93
0.11
1.7
1.7
—
—
—
0
0
12
135
0.88
0.10
3.4
2.2
—
—
—
0
0
5
64
0.78
0.08
3.8
3.8
—
—
—
0
0
9
84
1.07
0.07
1.1
1.2
—
—
—
0
0
21
197
1.07
0.06
1.8
1.4
—
—
—
0
0
68
662
1.04
0.06
4.2
2.9
0.21
0.35
e6/l
0.72
54
501
54
556
0.97
0.05
5.6
3.4
—
—
—
0
0
18
190
0.94
0.04
2.1
2.3
—
24.98
—
0
6
11
102
1.08
0.03
1.6
1.7
—
—
—
0
0
11
102
1.08
0.03
1.5
1.1
—
—
—
0
0
10
93
1.08
0.02
2.1
2.0
—
—
—
0
0
65
658
0.98
0.01
4.3
2.8
—
—
—
0
0
25
244
1.03
0.00
8.8
10.0
2.02
1.05
mmol/l
0.73
17
197
11
109
1.01
0.00
1.1
4.6
23.20
22.33
s
—
5
97
13
131
0.99
0.00
1.4
1.1
—
—
—
0
0
11
107
1.03
0.00
2.9
5.0
0.60
0.68
%
0.57
11
107
11
106
1.04
0.00
2.7
3.1
—
—
—
0
0
29
286
1.02
0.00
2.7
2.9
0.70
0.79
ug/l
0.25
18
191
0
9
0.00
0.00
0.0
2.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
149.52
—
0
9
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
6
0.00
-0.00
0.0
13.8
—
0.43
—
0
6
7
79
0.88
-0.00
8.7
10.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
70.60
—
0
6
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
157.20
—
0
5
5
56
0.89
-0.00
1.0
1.3
0.66
0.79
nmol/l
—
5
48
0
6
0.00
-0.00
0.0
7.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
64
0.94
-0.00
1.7
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.7
—
1.18
—
0
6
14
140
1.00
-0.00
3.6
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.2
—
—
—
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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