Other congenital malformations of nervous system

Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM

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 Q07
  • Cause of death: ICD-10 Q07

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

373

4. Check minimum number of events

None

373

5. Include endpoints

None

373

6. Filter based on genotype QC (FinnGen only)

373

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_NERVOUS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q0
Name in latin
Aliae malformationes congenitae systematis nervosi

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 3361 2035 1322
Only index persons 2889 1839 1050
Unadjusted period prevalence (%)
Whole population 0.05 0.06 0.04
Only index persons 0.06 0.07 0.04
Median age at first event (years)
Whole population 19.42 24.31 11.87
Only index persons 23.03 27.09 15.91

-FinnGen-

Key figures

All Female Male
Number of individuals 373 300 73
Unadjusted period prevalence (%) 0.09 0.10 0.03
Median age at first event (years) 32.35 32.57 31.43

-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 (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.

Matched cohort

Matched cases
330
Matched controls
3300
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q07.0
ICD-10 Finland
Arnold-Chiari syndrome
+∞
323.0
293
*
ABE50
NOMESCO Finland
Occipitocervical decompression
+∞
100.2
91
*
G95.0
ICD-10 Finland
Syringomyelia and syringobulbia
449.5
41.0
40
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
13.3
37.0
67
62
R51.80
ICD-10 Finland
Headache
5.1
35.4
138
405
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
7.3
31.8
83
145
Q07.8
ICD-10 Finland
Other specified congenital malformations of nervous system
+∞
28.5
27
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
6.5
26.9
76
146
N03AX12
ATC
gabapentin; oral
4.9
21.3
77
194
AA1AD
NOMESCO Finland
CT of head and brain
4.4
21.0
86
246
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
13.5
18.5
32
26
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
16.6
18.3
29
19
R42
ICD-10 Finland
Dizziness and giddiness
3.7
17.5
86
285
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.1
17.4
58
133
R20.2
ICD-10 Finland
Paraesthesia of skin
5.4
16.5
51
107
NA7BG
NOMESCO Finland
Spine and spinal cord MRI examination with high intensity magnet
22.3
16.2
23
11
G44.2
ICD-10 Finland
Tension-type headache
3.5
15.2
79
272
Q07.9
ICD-10 Finland
Congenital malformation of nervous system, unspecified
+∞
14.7
14
*
NA1CG
NOMESCO Finland
Cervical spine extensive MRI examination with high intensity magnet
12.2
14.0
25
22
Z01.8
ICD-10 Finland
Other specified special examinations
3.0
13.8
93
382
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
3.3
12.2
66
231
N03AX16
ATC
pregabalin; oral
3.0
12.0
78
311
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.4
11.6
35
71
N06AX21
ATC
duloxetine; oral
3.6
11.6
55
174
M03BX01
ATC
baclofen; systemic
13.3
11.3
19
15
G43.0
ICD-10 Finland
Migraine without aura [common migraine]
3.4
11.0
55
181
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
113.4
10.5
11
*
A02BC02
ATC
pantoprazole; systemic
2.1
10.1
186
1243
R51
ICD-10 Finland
Headache
3.9
9.9
41
116
N02AX02
ATC
tramadol; systemic, rectal
2.2
9.5
117
649
G91.9
ICD-10 Finland
Hydrocephalus, unspecified
+∞
9.4
9
*
G47.3
ICD-10 Finland
Sleep apnoea
3.0
9.2
56
212
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
19.2
9.0
13
7
TAB00
NOMESCO Finland
Lumbar puncture
4.3
8.1
29
72
M03BX02
ATC
tizanidine; oral
1.9
7.6
189
1359
A02BC01
ATC
omeprazole; systemic
2.2
7.2
80
418
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.3
7.2
36
119
AAF05
NOMESCO Finland
Ventriculoperitoneal shunt
30.7
7.2
9
*
G43.1
ICD-10 Finland
Migraine with aura [classical migraine]
2.8
7.2
48
192
N03AE01
ATC
clonazepam; systemic
4.2
7.2
26
66
N01
ICPC
Headache
2.2
7.1
77
397
R10.4
ICD-10 Finland
Other and unspecified abdominal pain
1.9
7.1
144
955
N03AX11
ATC
topiramate; oral
4.9
6.8
21
45
M54.4
ICD-10 Finland
Lumbago with sciatica
2.4
6.8
58
266
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.1
6.7
80
429
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
6.6
48
202
GD1AA
NOMESCO Finland
Thorax X-ray examination
1.9
6.6
107
652
A01
ICPC
Pain general/multiple sites
3.2
6.5
33
111
L01
ICPC
Neck symptom/complaint
2.4
6.4
57
266
XKD00
NOMESCO Finland
Uroflowmetry
3.5
6.3
28
85
AA7AA
NOMESCO Finland
Liquor cerebri shunt X-ray examinatin without contrast
+∞
6.3
6
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.0
6.1
81
453
N06AX16
ATC
venlafaxine; oral
2.2
6.1
62
309
M54.5
ICD-10 Finland
Low back pain
1.9
6.1
109
683
SPAT1301
SPAT
No procedures
1.9
6.0
110
691
N02BE01
ATC
paracetamol; systemic, rectal
1.9
6.0
257
2138

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
215
1192
2.90
22.41
9.2
6.2
1.21
1.22
mmol/l
1.08
190
1031
200
1091
2.80
21.12
8.9
5.9
1.22
1.22
mmol/l
0.77
184
1017
35
67
5.66
17.86
1.5
2.3
—
—
—
0
0
128
635
2.55
15.31
2.2
2.1
238.93
269.92
u/l
0.07
121
610
35
79
4.79
14.82
2.2
2.1
78.77
6.51
e6/l
1.02
26
61
35
79
4.79
14.82
2.2
2.2
142.41
219.18
e6/l
0.26
27
65
234
1544
2.38
14.47
6.5
4.3
5.98
6.28
mmol/l
2.19
223
1381
21
31
7.12
13.72
1.5
2.4
—
—
—
0
0
55
183
3.35
13.65
7.3
7.8
0.99
0.90
mmol/l
0.06
38
139
280
2028
2.53
13.62
6.2
6.4
73.56
78.36
u/l
1.20
267
1899
352
2917
4.67
12.64
16.0
9.9
3.93
3.91
mmol/l
0.72
347
2813
22
38
6.09
12.41
1.4
3.1
—
—
—
0
0
351
2917
4.45
12.23
16.3
9.8
139.60
139.56
mmol/l
0.14
346
2824
136
771
2.20
11.41
4.1
5.0
1.04
1.07
inr
0.31
41
263
315
2507
2.65
10.96
5.1
4.1
14.40
14.37
pmol/l
0.09
296
2318
156
947
2.11
10.87
4.2
4.8
38.02
37.17
g/l
1.53
142
897
146
866
2.13
10.80
2.1
1.7
97.93
98.49
pmol/l
0.05
91
453
277
2145
2.13
9.30
4.4
3.7
8.47
8.92
mm/h
0.29
263
2003
83
414
2.29
9.28
1.4
1.5
123881043.70
22554785.35
pmol/l
0.37
67
368
69
319
2.43
9.16
1.3
1.2
—
—
—
0
0
339
2871
2.98
9.09
5.9
4.7
1.64
1.80
mu/l
2.39
324
2698
229
1665
1.97
9.07
3.0
2.7
—
—
—
0
0
123
728
2.03
8.83
3.3
2.8
17.48
23.99
ng/l
0.37
58
332
188
1292
1.92
8.67
5.2
5.7
10.06
11.09
umol/l
0.30
175
1211
357
3172
3.93
7.63
10.1
8.3
23.23
24.76
u/l
1.12
352
3066
49
212
2.51
7.45
13.6
7.8
24.42
24.88
mmol/l
0.42
49
212
114
697
1.92
7.23
2.4
2.1
2.92
2.76
mg/l
0.33
96
596
209
1554
1.78
6.91
6.5
6.0
0.04
0.04
e9/l
0.19
185
1343
62
308
2.21
6.90
1.8
2.1
385.83
383.39
nmol/l
0.03
53
288
208
1547
1.78
6.85
6.5
6.0
0.53
0.53
e9/l
0.24
184
1341
113
701
1.88
6.80
3.5
3.4
7.39
7.40
ph
1.55
20
117
121
768
1.85
6.77
3.1
2.4
51.60
56.55
u/l
0.98
110
715
20
54
3.86
6.73
2.2
1.9
864.92
189.34
ug/l
0.60
13
46
172
1217
1.77
6.68
2.9
2.5
72.79
71.84
nmol/l
0.17
160
1119
85
483
1.98
6.63
1.5
1.3
19.44
20.65
nmol/l
0.33
74
417
284
2344
1.89
6.35
4.4
4.1
36.59
37.47
mmol/mol
1.04
264
2219
212
1610
1.73
6.27
7.2
6.5
0.20
0.18
e9/l
0.56
196
1425
22
67
3.43
6.24
4.6
4.3
—
—
—
0
0
49
231
2.29
6.16
8.6
8.5
—
—
—
0
0
228
1779
1.72
6.00
8.6
8.6
3.79
3.96
e9/l
0.54
204
1539
62
328
2.07
5.85
1.7
1.5
1049.21
1136.78
nmol/l
0.37
51
257
125
832
1.76
5.83
2.0
2.8
2.35
2.35
mmol/l
0.16
112
751
211
1620
1.70
5.82
6.7
5.9
2.10
2.06
e9/l
0.23
191
1434
99
615
1.83
5.82
1.7
2.1
0.80
0.97
mg/l
0.36
68
433
47
223
2.27
5.82
1.1
1.2
—
29.87
—
0
9
26
92
2.96
5.80
7.8
4.1
—
—
—
0
0
132
902
1.72
5.56
2.6
2.0
—
—
—
0
0
13
29
4.61
5.55
1.2
1.3
—
—
—
0
0
306
2629
1.91
5.49
3.9
3.3
5.58
5.58
mmol/l
0.00
286
2449
85
518
1.83
5.28
3.5
2.5
525.97
592.78
mosm/kgh2o
1.56
75
442
345
3121
2.40
4.99
15.8
10.1
15.99
19.80
mg/l
2.00
298
2338
191
1478
1.60
4.74
7.0
6.2
7.85
7.93
%
0.14
181
1396
189
1463
1.59
4.66
6.8
6.0
2.68
2.77
%
0.31
178
1371
358
3310
3.03
4.65
14.3
9.0
—
—
—
0
0
210
1678
1.58
4.43
3.5
2.9
69.21
64.60
ug/l
0.18
202
1572
182
1409
1.57
4.40
7.1
6.1
0.60
0.66
%
0.97
171
1324
82
522
1.73
4.34
4.1
3.6
—
—
—
0
0
118
830
1.62
4.26
3.5
2.3
—
—
—
0
0
48
261
1.96
4.19
8.8
5.2
1.93
1.59
mmol/l
0.35
39
195
193
1529
1.54
4.12
6.6
5.7
53.45
55.18
%
1.22
182
1446
108
750
1.62
4.09
5.1
4.5
—
—
—
0
0
49
272
1.92
4.03
1.4
1.7
21.22
19.64
iu/l
0.11
41
226
61
364
1.81
4.01
1.9
2.2
2.40
2.41
mmol/l
0.42
54
316
246
2069
1.56
3.91
3.7
2.9
33.27
33.49
u/l
0.02
235
1979
84
553
1.67
3.91
3.7
2.4
5.60
9.15
e6/l
1.36
76
481
96
657
1.62
3.83
4.5
3.1
1.02
1.02
kg/l
0.37
15
89
112
800
1.57
3.73
4.9
3.3
0.00
0.00
estimate
0.50
43
314
41
220
1.97
3.72
2.1
3.0
0.22
0.23
g/l
0.58
35
214
83
554
1.64
3.65
1.3
1.3
16.83
25.21
iu/ml
0.88
26
159
192
1547
1.50
3.62
6.8
5.9
31.93
30.90
%
0.66
178
1462
53
314
1.80
3.57
1.3
1.3
117.34
155.95
iu/ml
0.46
19
129
179
1425
1.49
3.56
4.3
3.8
—
—
—
0
0
39
213
1.93
3.38
2.6
2.1
3.68
4.06
e9/l
0.58
30
180
83
567
1.60
3.30
3.1
2.9
—
—
—
0
0
247
2120
1.49
3.24
5.4
3.9
—
—
—
0
0
11
33
3.40
3.21
1.4
4.5
—
—
—
0
0
25
118
2.20
3.18
1.6
2.9
81.10
121.43
ng/l
0.50
20
107
104
756
1.52
3.14
4.1
2.9
—
—
—
0
0
183
1493
1.44
3.06
4.7
3.1
0.00
0.00
estimate
0.00
42
312
101
736
1.51
3.00
4.3
3.0
0.34
0.35
e6/l
0.01
80
546
130
998
1.46
2.98
1.4
1.4
0.86
2.06
u/ml
1.27
36
248
32
172
1.94
2.92
13.7
5.6
—
—
—
0
0
36
202
1.87
2.89
4.1
4.0
0.00
0.51
%
—
8
41
81
568
1.54
2.86
1.9
2.8
299.56
4193.28
umol/l
1.82
71
503
30
159
1.96
2.85
3.6
4.1
1.23
1.23
mmol/l
0.36
23
136
131
1017
1.44
2.80
7.5
6.0
—
—
—
0
0
37
212
1.83
2.79
6.3
4.1
0.00
0.67
%
—
9
57
20
91
2.27
2.79
2.8
2.2
—
—
—
0
0
75
520
1.55
2.78
2.6
2.4
96.98
82.15
ug/g
0.32
54
397
175
1435
1.41
2.76
10.2
7.8
0.00
0.00
e9/l
0.29
142
1158
35
198
1.85
2.75
6.6
4.2
0.00
0.08
%
—
8
49
148
1180
1.42
2.72
4.2
2.9
—
—
—
0
0
43
261
1.73
2.69
2.1
2.4
24.34
32.10
u/l
1.22
38
214
61
408
1.59
2.64
3.6
2.8
4.91
3.38
e6/l
0.53
36
212
31
171
1.89
2.64
3.5
3.4
—
—
—
0
0
35
202
1.81
2.59
2.8
4.2
—
—
—
0
0
183
1524
1.39
2.58
4.9
3.2
0.00
0.00
estimate
0.00
44
304
5
7
7.22
2.55
1.8
2.9
—
—
—
0
0
43
266
1.70
2.52
1.4
1.2
137.59
260.12
u/ml
0.59
37
242
107
816
1.44
2.48
4.6
2.9
16.59
62.75
e6/l
2.68
85
614
180
1503
1.38
2.46
6.4
4.4
0.00
0.00
estimate
0.50
39
318
33
191
1.80
2.43
6.9
4.2
0.00
0.02
%
—
6
42
10
34
2.99
2.43
1.0
1.4
—
—
nmol/l
—
0
0
299
2726
1.49
2.43
3.9
3.5
2.80
2.82
mmol/l
0.13
279
2566
66
460
1.53
2.39
1.4
1.4
494.55
494.95
titre
0.00
11
91
129
1028
1.39
2.31
5.0
3.4
57.34
56.38
e6/l
0.01
94
665
8
23
3.53
2.28
6.9
4.9
1.66
1.56
ug/l
—
8
23
5
9
5.61
2.22
1.0
1.0
—
—
—
0
0
5
9
5.61
2.22
2.6
2.8
55.00
55.11
nmol/l
—
5
9
111
868
1.40
2.21
1.8
1.5
1.80
1.98
g/l
1.10
70
513
8
24
3.38
2.19
1.4
1.5
5.72
5.68
mmol/l
—
8
18
91
690
1.42
2.16
4.4
3.2
—
—
—
0
0
11
43
2.61
2.11
10.5
4.9
—
—
—
0
0
8
27
3.00
1.94
1.6
1.5
512.75
468.50
pmol/l
—
8
20
26
151
1.78
1.92
1.3
1.4
—
—
—
0
0
50
345
1.52
1.91
1.6
1.7
—
—
—
0
0
43
287
1.56
1.90
2.1
1.7
—
—
—
0
0
16
80
2.04
1.82
7.6
7.3
—
—
—
0
0
43
290
1.55
1.82
2.1
1.7
—
—
—
0
0
9
35
2.61
1.81
1.4
1.2
—
—
—
0
0
7
23
3.08
1.80
1.0
1.2
—
—
—
0
0
293
2708
1.38
1.80
3.6
3.3
4.64
4.68
mmol/l
0.28
277
2565
43
291
1.54
1.80
2.1
1.7
—
—
—
0
0
11
47
2.38
1.79
1.1
1.0
—
—
—
0
0
22
125
1.81
1.76
1.0
1.1
—
—
—
0
0
6
18
3.37
1.75
2.0
2.8
1.37
2.61
nmol/l
—
6
18
34
220
1.60
1.72
1.5
1.5
—
—
—
0
0
291
2694
1.36
1.71
3.5
3.3
1.49
1.49
mmol/l
0.07
272
2540
23
134
1.76
1.70
2.8
2.1
—
—
—
0
0
280
2578
1.35
1.70
3.3
3.0
1.18
1.19
mmol/l
0.12
262
2431
72
548
1.39
1.66
1.3
1.3
4.73
9.75
u/ml
0.73
27
216
87
683
1.36
1.66
3.7
3.5
7.20
8.30
mmol/l
1.24
79
592
5
14
3.60
1.62
2.6
2.1
0.20
0.22
e9/l
—
5
14
6
20
3.03
1.58
18.5
8.2
13.60
11.27
%
—
6
20
11
50
2.24
1.58
1.3
1.5
—
—
—
0
0
17
93
1.87
1.54
2.4
1.4
—
—
—
0
0
51
372
1.43
1.50
2.5
2.4
4426.74
3336.37
u/l
0.12
14
158
34
228
1.54
1.50
2.2
1.8
—
—
—
0
0
9
37
2.47
1.49
12.7
5.2
70.22
63.06
%
—
9
37
16
87
1.88
1.48
10.8
10.9
—
—
—
0
0
327
3105
1.43
1.48
15.6
11.1
40.31
40.13
%
0.24
254
2614
5
16
3.15
1.44
1.0
1.1
1562.80
1631.06
miu/ml
—
5
16
95
772
1.31
1.43
6.5
6.9
—
—
—
0
0
31
206
1.55
1.43
1.4
1.2
—
—
—
0
0
15
81
1.89
1.42
1.8
1.7
89.00
116.05
u/ml
—
7
14
29
191
1.56
1.39
1.3
1.8
8.09
9.51
u/l
0.28
21
152
17
97
1.79
1.37
1.0
1.1
—
—
—
0
0
17
97
1.79
1.37
1.0
1.1
—
—
—
0
0
14
75
1.90
1.36
2.6
2.4
—
—
—
0
0
9
42
2.17
1.34
1.8
3.8
—
—
—
0
0
40
287
1.44
1.30
2.2
1.7
—
—
—
0
0
132
1133
1.26
1.28
2.0
1.9
—
—
—
0
0
6
25
2.42
1.25
1.3
2.2
—
—
—
0
0
28
189
1.52
1.23
2.5
2.2
—
—
—
0
0
8
37
2.19
1.22
1.1
1.4
—
—
—
0
0
5
19
2.65
1.22
1.2
1.4
75.20
75.84
%
—
5
19
5
19
2.65
1.22
1.2
1.4
683.00
468.27
mu/l
—
5
19
45
335
1.39
1.21
1.7
1.4
—
—
—
0
0
105
883
1.26
1.21
4.2
2.7
—
—
—
0
0
25
166
1.54
1.18
2.8
2.0
—
—
—
0
0
81
662
1.29
1.17
1.5
1.6
—
—
—
0
0
15
87
1.75
1.17
1.8
1.6
—
—
—
0
0
52
400
1.35
1.15
3.3
2.9
26.58
354.86
ng/l
3.31
26
218
11
58
1.92
1.13
12.2
4.0
1.75
1.43
%
0.53
11
53
13
73
1.81
1.12
1.0
1.3
—
—
—
0
0
20
128
1.59
1.11
1.7
1.7
—
—
—
0
0
14
81
1.76
1.10
1.1
1.2
—
—
—
0
0
32
438
0.71
1.09
1.1
1.3
—
—
—
0
0
13
216
0.59
1.08
1.5
1.4
—
—
—
0
0
17
105
1.65
1.08
1.8
2.1
9.61
6.25
iu/l
—
7
36
49
379
1.34
1.05
1.2
1.2
—
—
—
0
0
20
130
1.57
1.05
1.3
1.1
—
—
—
0
0
13
75
1.76
1.04
1.1
1.2
—
—
—
0
0
5
22
2.29
1.03
1.4
1.7
0.77
1.01
g/l
—
5
22
9
48
1.90
1.01
1.3
1.9
—
—
—
0
0
36
268
1.38
0.99
2.3
1.7
—
—
—
0
0
14
222
0.62
0.98
1.4
1.5
—
—
—
0
0
0
29
0.00
0.98
0.0
1.3
—
—
—
0
0
7
36
1.96
0.97
2.4
4.8
—
—
—
0
0
28
200
1.43
0.97
1.3
1.2
—
—
—
0
0
6
27
2.24
0.94
1.5
1.7
93.28
92.30
%
—
6
27
9
52
1.75
0.93
1.2
1.7
38.86
38.95
g/l
—
9
47
26
186
1.43
0.90
1.1
1.2
—
—
—
0
0
14
216
0.63
0.89
1.4
1.4
—
—
—
0
0
18
120
1.53
0.87
3.8
1.9
0.13
0.10
e6/l
0.13
18
114
8
48
1.68
0.79
2.0
1.7
12.86
13.20
%
—
8
48
0
26
0.00
0.78
0.0
1.1
—
—
—
0
0
10
59
1.71
0.76
1.6
1.6
—
—
—
0
0
5
27
1.86
0.68
1.0
1.0
—
0.10
u/ml
—
0
8
304
2934
1.20
0.65
17.7
12.7
332.58
333.23
g/l
0.65
304
2914
56
473
1.22
0.64
3.9
3.5
1166.38
90.92
mg/l
0.45
38
315
15
104
1.46
0.63
1.8
1.7
242.67
214.51
u/ml
—
9
60
58
493
1.21
0.62
4.2
4.3
4.25
14.48
mg/mmol
1.93
36
318
0
22
0.00
0.59
0.0
1.1
—
—
—
0
0
6
37
1.63
0.56
2.0
1.3
170.67
209.97
pmol/l
—
6
37
16
116
1.40
0.55
1.4
1.4
—
—
—
0
0
29
232
1.27
0.54
3.7
3.7
4.58
4.82
pmol/l
0.59
29
209
6
40
1.51
0.52
1.5
1.3
—
—
—
0
0
36
299
1.23
0.50
4.1
3.3
—
—
—
0
0
63
554
1.17
0.48
1.8
1.5
—
—
—
0
0
7
47
1.50
0.48
2.4
3.1
9.81
9.63
kpa
—
7
47
7
47
1.50
0.48
2.4
3.1
4.80
4.90
kpa
—
7
47
12
85
1.43
0.47
2.7
2.2
—
—
—
0
0
36
303
1.21
0.45
1.4
1.3
—
—
—
0
0
5
31
1.62
0.43
1.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
8
60
1.34
0.40
3.3
4.1
55.88
56.05
%
—
8
60
8
60
1.34
0.40
3.1
4.0
4.13
4.16
e9/l
—
8
60
14
106
1.33
0.39
14.9
11.2
1.16
1.14
mg/l
0.08
14
101
5
36
1.39
0.38
4.2
2.4
1.46
1.17
mmol/l
—
5
36
91
987
0.90
0.37
1.9
1.7
—
—
—
0
0
15
117
1.29
0.35
1.2
1.5
—
10.08
—
0
5
12
91
1.33
0.34
1.3
1.2
—
1.84
—
0
7
15
118
1.28
0.34
1.3
1.2
—
—
—
0
0
12
92
1.31
0.32
1.0
1.1
—
—
—
0
0
73
670
1.11
0.31
1.5
1.6
1.31
1.36
mmol/l
0.20
65
591
30
260
1.17
0.30
1.5
1.3
—
—
—
0
0
7
56
1.25
0.29
3.4
1.7
0.45
6.65
ug/l
—
7
51
80
860
0.91
0.28
1.8
1.7
—
—
—
0
0
22
258
0.84
0.28
1.6
1.3
—
—
—
0
0
46
416
1.12
0.26
1.8
2.1
—
—
—
0
0
31
275
1.14
0.24
1.4
1.4
—
—
—
0
0
22
190
1.17
0.23
1.7
1.4
—
—
—
0
0
13
106
1.23
0.23
3.8
2.5
—
—
—
0
0
5
41
1.22
0.22
1.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.4
—
26.22
—
0
10
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
72.60
—
0
13
0
13
0.00
0.21
0.0
9.2
—
—
—
0
0
23
206
1.12
0.16
1.0
1.1
—
—
—
0
0
17
190
0.89
0.13
2.1
2.2
16.25
48.17
u/ml
1.54
17
180
22
201
1.10
0.11
1.3
1.4
247.67
258.35
miu/ml
0.05
12
100
34
321
1.07
0.09
1.1
1.2
—
—
—
0
0
6
55
1.09
0.09
1.3
1.4
—
—
—
0
0
12
107
1.13
0.08
2.3
6.2
0.12
0.35
g/l
—
5
60
5
63
0.79
0.08
1.4
1.0
—
—
—
0
0
6
70
0.85
0.07
1.0
1.2
—
—
—
0
0
36
343
1.05
0.07
1.6
1.5
—
—
—
0
0
121
1232
0.97
0.06
2.1
2.1
—
—
—
0
0
117
1149
1.03
0.06
1.7
1.8
—
—
—
0
0
25
260
0.96
0.03
1.6
1.6
—
—
—
0
0
25
253
0.99
0.00
1.1
1.2
—
105.63
—
0
8
5
50
1.00
0.00
1.2
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
7
71
0.99
0.00
1.4
1.9
6.93
9.58
mg/l
—
7
65
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
9
90
1.00
0.00
1.4
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
38.00
—
0
5
0
8
0.00
0.00
0.0
1.5
—
—
—
0
0
109
1090
1.00
0.00
2.1
2.1
—
—
—
0
0
0
5
0.00
0.00
0.0
2.8
—
—
—
0
0
0
7
0.00
0.00
0.0
7.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
8
83
0.96
0.00
2.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
3.7
—
—
—
0
0
6
63
0.95
0.00
1.0
2.3
1.48
0.86
nmol/l
—
6
57
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
6
62
0.97
0.00
2.8
2.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.9
—
—
—
0
0
9
89
1.01
0.00
1.1
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 1.466 [1.11, 1.94] 0.008
Birth year 1.002 [0.99, 1.01] 0.727

During the follow-up period (1.1.1998 — 31.12.2019), 59 out of 1703 females with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM 2.062 [1.43, 2.98] < 0.001
Birth year 0.987 [0.98, 1.0] 0.006

During the follow-up period (1.1.1998 — 31.12.2019), 52 out of 1152 males with Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM.

N-year risk Females Males
1 0.184% 0.435%
5 1.029% 2.466%
10 2.689% 5.886%
15 4.951% 11.231%
20 8.946% 18.364%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_NERVOUS_SYSTEM – Other congenital malformations of nervous system

GWS hits: 1

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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