Other congenital malformations of brain

Q17_OTHER_CONGEN_MALFO_BRAIN

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 Q04
  • Cause of death: ICD-10 Q04

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

208

4. Check minimum number of events

None

208

5. Include endpoints

None

208

6. Filter based on genotype QC (FinnGen only)

185

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 encephali

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 2987 1324 1657
Only index persons 2131 981 1150
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.05
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 5.21 6.59 3.95
Only index persons 9.59 12.95 6.73

-FinnGen-

Key figures

All Female Male
Number of individuals 185 102 83
Unadjusted period prevalence (%) 0.04 0.04 0.04
Median age at first event (years) 30.81 32.54 28.68

-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
195
Matched controls
1950
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q04.8
ICD-10 Finland
Other specified congenital malformations of brain
+∞
99.8
87
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
23.4
97.5
84
61
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
34.6
84.1
57
23
N03AX14
ATC
levetiracetam; systemic
31.5
78.7
55
24
N03AF02
ATC
oxcarbazepine; oral
24.2
77.1
61
36
G40.9
ICD-10 Finland
Epilepsy, unspecified
24.1
67.0
52
29
Q04.6
ICD-10 Finland
Congenital cerebral cysts
+∞
59.5
54
*
N03AG01
ATC
valproic acid; systemic, rectal
10.9
40.5
50
60
N05CD08
ATC
midazolam; nasal, systemic
15.7
35.7
33
25
N03AX11
ATC
topiramate; oral
13.5
32.7
33
29
183
Kela drug reimbursment
Lamotrigin and topiramate
41.5
32.4
40
12
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
7.1
30.6
56
105
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
34.4
30.3
39
14
N05BA09
ATC
clobazam; oral
34.4
30.3
39
14
N03AX09
ATC
lamotrigine; oral
9.8
28.3
36
44
XA800
NOMESCO Finland
Neuropsychological investigation
7.4
27.5
46
78
G93.0
ICD-10 Finland
Cerebral cysts
155.7
26.3
27
*
R56.8
ICD-10 Finland
Other and unspecified convulsions
7.6
25.6
41
66
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
32.7
25.5
33
12
N03AX18
ATC
lacosamide; systemic
62.2
23.7
27
5
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
9.8
23.4
29
34
N05BA01
ATC
diazepam; systemic, rectal
5.6
21.5
48
107
Q04.3
ICD-10 Finland
Other reduction deformities of brain
+∞
20.1
19
*
Q04.9
ICD-10 Finland
Congenital malformation of brain, unspecified
+∞
20.1
19
*
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
25.8
19.7
27
12
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
51.8
19.7
23
5
AA1AD
NOMESCO Finland
CT of head and brain
4.1
18.7
68
223
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
5.2
18.6
45
107
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.3
16.4
37
82
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
15.7
15.5
25
18
N03AX22
ATC
perampanel; oral
49.3
15.3
18
*
AAJ20
NOMESCO Finland
Excision of epileptic focus
+∞
14.8
14
*
Q04.00
ICD-10 Finland
Agenesis of corpus callosum
+∞
14.8
14
*
N88
ICPC
Epilepsy
29.8
14.6
19
7
N03AX23
ATC
brivaracetam; systemic
46.3
14.4
17
*
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
32.8
14.2
18
6
G40.10
ICD-10 Finland
Simple partial seizures
81.0
13.8
15
*
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
28.1
13.6
18
7
G40
ICD-10 Finland
Epilepsy
23.2
13.6
19
9
N03AX15
ATC
zonisamide; oral
43.4
13.4
16
*
R62.0
ICD-10 Finland
Delayed milestone
5.9
12.6
24
45
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
24.7
11.8
16
7
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
4.4
11.8
33
87
G40.09
ICD-10 Finland
Other or unspecified partial (focal) idiopathic epilepsy or epileptic syndrome with local onset
127.2
11.6
12
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.6
10.6
41
136
F83
ICD-10 Finland
Mixed specific developmental disorders
8.3
10.5
23
31
Z2446
NOMESCO Finland
Social worker
3.4
10.2
42
145
Z2445
NOMESCO Finland
Psychologist
3.9
10.1
33
97
N03AG04
ATC
vigabatrin; oral
27.7
9.9
13
5
181
Kela drug reimbursment
Retigabine and vigabatrin
58.0
9.7
11
*
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
3.6
9.6
35
111
1541, ,
Kela drug reimbursment
+∞
9.4
9
*
3069, ,
Kela drug reimbursment
+∞
9.4
9
*
Q04.08
ICD-10 Finland
Congenital malformations of corpus callosum
+∞
9.4
9
*
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
3.1
9.4
45
170
ZXE10
NOMESCO Finland
More than one and less than three hours
2.6
9.2
79
405
H47.2
ICD-10 Finland
Optic atrophy
38.6
9.1
11
*
ADB00
NOMESCO Finland
Implantation of vagus nerve stimulating device
38.6
9.1
11
*
R1230
NOMESCO Finland
Neuropsychological evaluation of need and possibilities to rehabilitation
7.8
9.0
20
28
G40.00
ICD-10 Finland
Benign childhood epilepsy with centrotemporal EEG spikes
52.4
8.8
10
*
G91.1
ICD-10 Finland
Obstructive hydrocephalus
52.4
8.8
10
*
G40.21
ICD-10 Finland
Partial epileptic seizure with cloudiness and automatism
52.4
8.8
10
*
R1260
NOMESCO Finland
Evaluation of communicative skills
12.4
8.7
15
13
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
3.4
8.7
35
118
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
17.3
8.7
13
8
F82
ICD-10 Finland
Specific developmental disorder of motor function
8.5
8.6
18
23
AAF20
NOMESCO Finland
Revision of shunt of ventricle of brain
94.0
8.5
9
*
N03AF01
ATC
carbamazepine; oral, rectal
7.1
8.4
20
31
N03AX25
ATC
cenobamate; oral
+∞
8.4
8
*
N03AF03
ATC
rufinamide; oral
+∞
8.4
8
*
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.6
8.3
61
288
NE1AA
NOMESCO Finland
Pelvis X-ray examination
4.5
7.9
20
48
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.7
7.8
51
227
P85
ICPC
Mental retardation
10.7
7.7
14
14
ZXE20
NOMESCO Finland
More than three and less than five hours
3.0
7.5
38
147
AA1BM
NOMESCO Finland
MRI examination of brain with 3 Tesla magnet
14.1
7.5
12
9
3454A
ICD-9 Finland
Epilepsy, Partial epilepsy, with impairment of consciousness[EPILEPSIA GENERALISATA SECUNDARIA]
83.1
7.5
8
*
Z31.5
ICD-10 Finland
Genetic counselling
3.4
7.4
28
91
A28
ICPC
Limited function/disability NOS
3.1
7.3
33
119
N03AF04
ATC
eslicarbazepine; oral
+∞
7.3
7
*
AEA50
NOMESCO Finland
Adjustment of implanted neurostimulator
+∞
7.3
7
*
G40.89
ICD-10 Finland
Other epilepsy
31.3
7.2
9
*
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.7
7.2
43
182
ZXD10
NOMESCO Finland
Scheduled procedure
2.3
7.0
80
456
H53.4
ICD-10 Finland
Visual field defects
14.5
7.0
11
8
G40.2
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
17.5
6.8
10
6
G40.11
ICD-10 Finland
Simple partial epileptic seizure that develops into a complex partial seizure
17.5
6.8
10
6
G80.2
ICD-10 Finland
Spastic hemiplegic cerebral palsy
41.5
6.8
8
*
Z3226
NOMESCO Finland
Physiotherapist
2.5
6.8
54
263
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
23.5
6.7
9
*
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
6.7
52
250
RS222, ,
NOMESCO Finland
10.6
6.6
12
12
WX408
NOMESCO Finland
General anesthesy, balanced
2.3
6.6
64
339
N03AB02
ATC
phenytoin; systemic
15.0
6.5
10
7
G91.9
ICD-10 Finland
Hydrocephalus, unspecified
72.1
6.5
7
*
XF400
NOMESCO Finland
ECG with 12 standard connections
2.7
6.4
40
172
R4120
NOMESCO Finland
Occupational therapy
3.5
6.4
23
72
199
Kela drug reimbursment
Rufinamide
+∞
6.3
6
*
Q04.4
ICD-10 Finland
Septo-optic dysplasia
+∞
6.3
6
*
AAF40
NOMESCO Finland
Shunt of cyst of brain to peritoneum
+∞
6.3
6
*
R4110
NOMESCO Finland
Physiotherapy
2.2
6.2
66
362
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.6
6.2
21
63
H50.0
ICD-10 Finland
Convergent concomitant strabismus
10.5
6.1
11
11
Z3231
NOMESCO Finland
Registered nurse
2.2
6.1
70
396
ZXD05
NOMESCO Finland
Urgent procedure
2.2
6.0
63
343

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
12
5
25.42
9.02
2.7
3.0
26.55
16.04
umol/l
—
12
5
97
598
2.24
7.05
5.6
6.9
37.13
36.99
g/l
0.08
92
576
114
770
2.16
6.37
13.2
11.1
1.22
1.22
mmol/l
0.06
105
696
9
7
13.39
5.64
4.0
3.3
21.33
22.56
umol/l
—
9
7
47
237
2.30
5.34
6.9
11.3
1.26
0.99
mmol/l
0.31
42
188
39
184
2.40
5.14
8.1
13.7
104.33
104.54
mmol/l
0.06
39
184
31
131
2.62
5.13
8.9
18.2
7.40
7.42
ph
0.91
17
69
31
132
2.60
5.06
8.9
17.9
5.43
5.21
kpa
0.41
31
126
31
132
2.60
5.06
8.8
17.9
14.94
13.38
kpa
0.68
31
127
28
117
2.63
4.74
3.2
5.3
58.29
72.22
e9/l
1.59
16
85
46
241
2.19
4.73
7.3
11.3
7.36
7.38
ph
0.74
36
151
80
514
1.94
4.73
1.7
1.8
99.94
95.53
pmol/l
0.32
45
274
22
82
2.90
4.60
10.3
19.9
94.66
93.96
%
0.18
22
82
28
121
2.53
4.43
1.3
1.5
1211.36
1107.50
nmol/l
0.26
20
97
43
226
2.16
4.37
9.5
14.3
—
—
—
0
0
181
1578
3.05
4.25
23.9
15.3
138.79
139.62
mmol/l
2.79
176
1548
17
57
3.17
4.24
1.5
4.7
2.45
17.02
e6/l
0.61
11
41
17
57
3.17
4.24
1.4
4.4
380.12
445.82
mg/l
0.29
17
57
16
52
3.26
4.19
1.5
5.1
—
—
—
0
0
131
1023
1.85
3.94
9.6
11.6
3.70
3.71
e9/l
0.02
115
867
180
1581
2.80
3.84
22.4
15.3
3.96
3.95
mmol/l
0.28
174
1544
7
8
9.02
3.80
2.1
5.1
—
—
—
0
0
73
484
1.81
3.74
2.4
3.2
2.37
2.38
mmol/l
0.32
66
448
63
404
1.83
3.58
5.2
3.8
7.39
7.39
ph
0.29
45
273
16
58
2.92
3.51
8.8
7.6
36.93
36.99
°c
0.49
16
58
121
944
1.74
3.43
8.5
8.2
0.57
0.56
e9/l
0.18
105
802
121
946
1.74
3.38
8.5
8.2
0.04
0.04
e9/l
0.31
105
802
123
968
1.73
3.34
8.3
8.2
2.19
2.12
e9/l
0.27
106
848
6
7
8.79
3.28
1.3
1.1
—
—
—
0
0
55
350
1.80
3.16
4.4
4.4
—
—
—
0
0
80
570
1.68
3.07
5.5
7.4
—
—
—
0
0
123
986
1.67
2.95
8.7
8.7
0.17
0.20
e9/l
1.32
108
850
10
27
3.85
2.92
1.5
6.3
—
—
—
0
0
38
223
1.87
2.81
2.1
2.6
2.41
2.44
mmol/l
0.60
32
198
109
856
1.62
2.77
11.9
11.5
0.00
0.00
e9/l
0.50
87
666
5
6
8.51
2.76
2.2
1.2
100.20
86.17
umol/l
—
5
6
25
127
2.11
2.75
2.0
1.9
0.00
0.00
estimate
—
5
27
36
209
1.89
2.75
2.4
2.5
401.29
342.03
nmol/l
0.96
31
200
70
494
1.65
2.73
2.7
2.7
—
—
—
0
0
35
204
1.87
2.64
8.3
10.5
23.68
23.44
mmol/l
0.30
35
204
132
1097
1.63
2.57
8.4
7.3
96.75
95.42
u/l
0.07
126
1040
30
169
1.92
2.50
3.4
3.9
0.21
0.21
g/l
0.03
30
160
23
408
0.51
2.48
2.0
1.9
—
—
—
0
0
11
39
2.93
2.38
1.5
5.9
—
—
—
0
0
23
120
2.04
2.37
2.3
1.9
13.90
16.78
iu/l
0.18
15
90
38
235
1.77
2.37
20.1
16.3
23.61
24.71
mmol/l
1.78
38
235
17
81
2.20
2.20
2.4
13.3
0.79
0.60
%
1.58
17
81
6
14
4.38
2.16
2.2
1.3
—
—
—
0
0
20
104
2.03
2.09
2.4
2.0
7.35
7.59
u/l
0.04
12
72
6
15
4.09
2.05
1.0
1.0
275.00
330.80
mg/l
—
6
15
33
206
1.72
1.99
2.2
1.7
—
—
—
0
0
60
439
1.53
1.92
5.4
3.4
0.00
0.01
estimate
0.50
18
157
32
202
1.70
1.86
1.5
1.5
545.85
66102138.72
pmol/l
0.50
26
177
5
12
4.25
1.83
2.2
2.1
12.80
10.58
mmol/l
—
5
12
7
23
3.12
1.81
5.0
3.2
16.60
16.94
%
—
7
23
7
23
3.12
1.81
2.7
5.6
—
—
—
0
0
20
110
1.91
1.81
5.3
5.8
0.40
0.57
%
—
10
28
20
110
1.91
1.81
5.4
6.3
0.00
0.21
%
—
10
24
5
13
3.92
1.72
1.2
1.5
1.72
1.75
mmol/l
—
5
13
20
112
1.88
1.72
1.2
1.5
—
—
—
0
0
6
19
3.22
1.67
1.5
4.1
0.33
0.63
index
—
6
19
21
121
1.82
1.66
5.3
5.9
0.55
0.71
%
0.25
11
35
32
209
1.64
1.65
3.5
3.0
2.50
2.45
g/l
0.16
32
193
182
1707
1.99
1.63
16.2
10.2
—
—
—
0
0
145
1291
1.48
1.59
4.3
4.1
14.38
14.47
pmol/l
0.17
137
1198
10
44
2.34
1.58
1.2
2.5
—
—
—
0
0
29
187
1.65
1.57
4.1
3.2
20.24
22.18
%
0.33
29
180
80
643
1.41
1.54
9.3
8.6
—
—
—
0
0
5
15
3.39
1.53
2.6
4.1
31.40
31.60
pg
—
5
15
7
28
2.55
1.46
9.1
5.3
—
—
—
0
0
5
16
3.18
1.44
11.4
2.5
23.00
31.81
mmol/l
—
5
16
17
96
1.84
1.44
1.1
1.1
—
—
—
0
0
54
409
1.44
1.43
4.6
2.6
—
—
—
0
0
69
551
1.39
1.35
14.4
7.9
1.16
1.12
inr
0.24
57
447
29
195
1.57
1.34
14.4
8.8
—
—
—
0
0
178
1674
1.73
1.34
18.4
13.0
26.94
23.47
mg/l
0.62
150
1284
46
344
1.44
1.30
5.2
3.0
7.10
6.60
e6/l
0.12
46
309
19
117
1.69
1.23
5.6
6.3
0.33
0.08
%
—
9
26
12
205
0.56
1.14
1.5
1.3
—
—
—
0
0
160
1483
1.44
1.14
4.9
4.9
1.78
1.89
mu/l
0.69
148
1397
123
1101
1.32
1.05
3.9
3.9
44.62
37.53
u/l
0.48
116
1070
7
37
1.92
0.95
7.1
6.7
—
—
—
0
0
97
850
1.28
0.94
5.1
3.5
0.00
0.00
estimate
-0.00
19
159
81
694
1.29
0.93
3.8
3.3
6.38
6.20
ph
0.71
43
374
44
346
1.35
0.93
3.5
2.8
—
—
—
0
0
64
532
1.30
0.93
6.2
3.8
35.24
30.98
e6/l
0.09
51
403
5
104
0.47
0.92
2.6
1.8
—
—
—
0
0
49
393
1.33
0.91
3.7
3.0
1.01
1.02
kg/l
1.24
33
245
38
293
1.37
0.91
4.9
3.5
0.74
1.95
e6/l
1.21
14
148
6
29
2.10
0.90
1.2
1.1
—
—
—
0
0
96
844
1.27
0.89
5.3
3.5
0.00
0.00
estimate
-0.00
19
163
6
30
2.03
0.87
1.7
1.1
224.83
316.96
mu/l
—
6
25
51
414
1.31
0.87
4.3
3.6
—
—
—
0
0
10
57
1.80
0.85
2.2
1.7
30.60
17.79
ng/l
—
10
57
31
234
1.39
0.84
1.3
1.5
435.56
421.28
titre
—
9
47
0
28
0.00
0.76
0.0
1.5
—
—
—
0
0
96
857
1.24
0.74
5.3
3.5
0.00
0.00
estimate
-0.00
20
157
9
56
1.64
0.73
12.1
12.8
—
—
—
0
0
47
388
1.28
0.71
8.5
5.4
—
—
—
0
0
79
694
1.23
0.70
3.0
3.2
—
—
estimate
—
0
0
5
27
1.87
0.69
2.0
2.1
—
—
—
0
0
5
27
1.87
0.69
4.0
4.0
17.00
8.59
%
—
5
27
71
618
1.23
0.69
5.0
3.1
0.00
0.00
estimate
-0.00
18
139
62
532
1.24
0.68
2.0
1.9
—
—
—
0
0
53
447
1.25
0.68
4.9
2.7
18.04
40.10
ng/l
1.02
39
243
5
29
1.74
0.64
17.0
5.4
9.96
8.24
pmol/l
—
5
29
71
623
1.22
0.63
7.7
4.7
117.03
33.62
e6/l
0.86
51
421
0
22
0.00
0.59
0.0
1.6
—
14.22
—
0
17
55
474
1.22
0.58
6.4
3.8
0.27
0.36
e6/l
0.28
43
342
38
314
1.26
0.58
2.8
2.5
189.71
71.45
ug/g
0.94
28
250
6
36
1.69
0.57
1.2
2.0
—
—
—
0
0
6
36
1.69
0.57
1.2
2.0
—
—
—
0
0
6
36
1.69
0.57
1.2
2.0
—
—
—
0
0
6
36
1.69
0.57
1.2
2.0
—
—
—
0
0
10
147
0.66
0.56
2.0
1.8
—
—
—
0
0
9
60
1.52
0.55
2.6
2.1
—
—
—
0
0
6
38
1.60
0.55
1.0
1.1
—
—
—
0
0
144
1363
1.22
0.54
4.6
3.8
5.58
5.67
mmol/l
0.55
134
1268
189
1853
1.65
0.53
29.3
19.9
133.66
135.95
g/l
1.35
189
1840
6
39
1.56
0.53
14.2
3.6
7.42
7.40
ph
—
6
39
33
393
0.81
0.49
1.5
1.8
—
—
—
0
0
16
120
1.36
0.48
8.0
3.4
—
—
—
0
0
25
204
1.26
0.43
2.8
2.3
—
—
—
0
0
5
31
1.63
0.43
1.0
1.2
—
—
—
0
0
8
58
1.40
0.42
1.1
1.4
—
100.00
—
0
8
5
33
1.53
0.41
2.0
2.2
—
—
—
0
0
13
171
0.74
0.41
1.2
1.2
—
—
—
0
0
8
59
1.37
0.41
1.1
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
210.81
—
0
16
61
548
1.16
0.41
1.4
1.6
—
—
—
0
0
5
36
1.40
0.38
4.4
3.4
43.86
37.53
%
—
5
36
9
68
1.34
0.38
2.0
1.9
—
—
—
0
0
9
70
1.30
0.37
2.9
1.5
—
—
—
0
0
12
90
1.36
0.36
1.2
1.2
—
—
—
0
0
15
118
1.29
0.34
1.7
2.1
—
—
—
0
0
6
45
1.34
0.34
4.5
16.0
66.82
67.33
%
—
6
45
6
88
0.67
0.33
1.3
1.1
—
—
—
0
0
6
46
1.31
0.33
1.2
1.1
—
62.13
—
0
11
64
586
1.14
0.33
1.3
1.6
1.13
1.93
u/ml
0.38
20
133
29
335
0.84
0.33
3.1
3.3
26.66
86.96
mg/l
1.67
19
226
15
184
0.80
0.30
1.6
1.5
—
—
—
0
0
56
610
0.89
0.29
2.6
2.6
—
—
—
0
0
36
319
1.16
0.29
2.3
3.6
0.78
1.37
mg/l
0.90
29
257
145
1403
1.13
0.28
4.9
4.6
2.75
2.75
mmol/l
0.01
139
1339
43
474
0.88
0.27
2.6
2.1
—
—
—
0
0
160
1559
1.15
0.26
22.4
17.0
334.79
334.52
g/l
0.13
160
1552
14
168
0.82
0.24
1.6
1.8
3.56
3.46
mmol/l
—
9
120
5
37
1.36
0.23
1.0
1.1
—
—
—
0
0
13
157
0.82
0.23
1.3
1.9
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
212.44
—
0
11
0
11
0.00
0.21
0.0
8.0
—
—
—
0
0
0
11
0.00
0.21
0.0
22.9
—
0.57
—
0
11
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
10
80
1.26
0.21
1.4
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
—
—
0
0
6
48
1.26
0.20
1.2
1.1
—
51.99
—
0
10
26
232
1.14
0.20
2.7
3.4
484.56
490.87
ng/l
0.01
18
149
6
51
1.18
0.19
1.2
15.3
63.48
67.96
%
—
6
51
6
51
1.18
0.19
1.2
1.3
—
—
—
0
0
31
281
1.12
0.19
1.2
1.3
20.59
25.17
iu/ml
—
10
71
5
69
0.72
0.17
1.0
1.0
1.62
1.51
g/l
—
5
69
142
1388
1.08
0.16
4.4
4.3
1.41
1.45
mmol/l
0.40
137
1320
49
460
1.09
0.16
5.0
2.7
0.00
0.01
estimate
0.50
17
134
28
259
1.09
0.12
1.7
1.5
—
—
—
0
0
16
144
1.12
0.11
1.1
1.2
—
—
—
0
0
24
259
0.92
0.10
1.3
1.3
6.94
6.93
u/ml
0.00
14
98
57
547
1.06
0.10
1.8
1.6
1.98
1.98
g/l
0.01
31
317
15
166
0.90
0.10
1.5
1.7
—
—
—
0
0
15
136
1.11
0.09
1.6
1.7
—
—
—
0
0
15
136
1.11
0.09
1.3
1.4
—
—
—
0
0
5
65
0.76
0.08
1.0
1.0
—
0.50
—
0
8
7
65
1.08
0.08
1.3
1.1
—
—
—
0
0
6
71
0.84
0.08
1.5
1.1
0.82
0.83
g/l
—
6
71
6
70
0.85
0.08
1.3
1.3
—
—
—
0
0
28
296
0.94
0.08
2.0
1.9
—
—
—
0
0
32
335
0.95
0.06
3.2
3.9
2.66
8.64
mg/mmol
2.04
20
219
21
223
0.93
0.06
1.1
1.2
—
—
—
0
0
60
615
0.96
0.05
1.8
2.0
1.23
1.41
mmol/l
1.21
55
551
127
1282
0.97
0.03
5.4
4.8
35.83
37.37
mmol/mol
1.74
122
1224
15
158
0.95
0.02
1.6
1.7
—
—
—
0
0
17
162
1.05
0.02
1.5
1.7
—
—
—
0
0
17
162
1.05
0.02
2.0
2.4
0.49
0.64
ug/l
0.99
11
84
20
192
1.05
0.02
1.6
1.8
—
—
—
0
0
132
1311
1.02
0.02
4.0
3.8
1.16
1.25
mmol/l
0.75
125
1248
17
164
1.04
0.00
1.5
1.7
—
—
—
0
0
15
149
1.01
0.00
1.1
1.6
—
—
—
0
0
17
165
1.03
0.00
1.5
1.7
—
—
—
0
0
0
6
0.00
0.00
0.0
5.3
—
49.42
—
0
6
0
6
0.00
0.00
0.0
2.0
—
105.50
—
0
6
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
0.49
—
0
8
0
7
0.00
-0.00
0.0
1.1
—
2049.29
—
0
7
7
76
0.92
-0.00
1.9
2.1
—
4.79
—
0
16
0
7
0.00
-0.00
0.0
1.0
—
2.66
—
0
7
0
5
0.00
-0.00
0.0
2.6
—
29.00
—
0
5
0
8
0.00
-0.00
0.0
3.9
—
38.38
—
0
8
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
7.7
—
8.62
—
0
8
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
27.43
—
0
7
5
56
0.89
-0.00
1.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
7
71
0.99
-0.00
1.6
2.1
—
—
—
0
0
5
52
0.96
-0.00
3.2
4.6
4.82
13.92
umol/l
—
5
42

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_BRAIN and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_BRAIN 4.599 [3.29, 6.44] < 0.001
Birth year 0.992 [0.98, 1.0] 0.067

During the follow-up period (1.1.1998 — 31.12.2019), 86 out of 1102 females with Q17_OTHER_CONGEN_MALFO_BRAIN died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_BRAIN 3.755 [2.72, 5.18] < 0.001
Birth year 0.989 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 103 out of 1405 males with Q17_OTHER_CONGEN_MALFO_BRAIN died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_BRAIN.

N-year risk Females Males
1 0.47% 0.765%
5 2.279% 4.579%
10 5.364% 10.956%
15 10.385% 19.83%
20 18.528% 32.143%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_BRAIN – Other congenital malformations of brain

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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