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Other congenital malformations of brain

DOID Endpoint Browser PheWeb

Q17_OTHER_CONGEN_MALFO_BRAIN

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q04
  • Cause of death: ICD-10 — Q04

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

178

4. Check minimum number of events

None

178

5. Include endpoints

None

178

6. Filter based on genotype QC (FinnGen only)

178

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 178 95 83
Unadjusted period prevalence (%) 0.03 0.03 0.04
Median age at first event (years) 29.98 32.46 27.15

-FinRegistry-

Age distribution of first events

01020304050607080900.0k0.2k0.4k0.6k0.8k1.0k1.2k1.4k1.6k1.8kAgeIndividuals

-FinnGen-

Age distribution of first events

0102030405060700510152025303540455055AgeIndividuals

-FinRegistry-

Year distribution of first events

197019751980198519901995200020052010201520202022050100150200250300350400450500550600650700YearIndividuals

-FinnGen-

Year distribution of first events

1970197519801985199019952000200520102015202020230510152025303540YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.10.20.30.40.50.60.70.80.91.0AgeProbability of first incidence (%)

-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
162
Matched controls
1622
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q04.8
ICD-10 Finland
Other specified congenital malformations of brain
+∞
77.4
68
*
Q04.6
ICD-10 Finland
Congenital cerebral cysts
+∞
51.9
47
*
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
20.0
40.6
64
51
N03AF02
ATC
oxcarbazepine; oral
17.9
26.4
42
31
182
Kela drug reimbursment
Brivaracetam, eslikarbazepin, gabapentin, lacosamide, levetiracetam, perampanel, pregabalin, tiagabin and zonisamide
22.4
25.4
37
21
G40.9
ICD-10 Finland
Epilepsy, unspecified
17.5
22.1
35
25
183
Kela drug reimbursment
Lamotrigin and topiramate
27.9
20.8
28
12
N03AX14
ATC
levetiracetam; systemic
15.6
20.6
34
27
Q04.9
ICD-10 Finland
Congenital malformation of brain, unspecified
+∞
19.1
18
*
G40.29
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with complex partial seizures
29.3
18.9
25
10
N05BA09
ATC
clobazam; oral
23.2
17.0
24
12
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
7.0
16.6
44
82
G93.0
ICD-10 Finland
Cerebral cysts
37.7
16.2
20
6
Q04.3
ICD-10 Finland
Other reduction deformities of brain
+∞
15.9
15
*
G40.22
ICD-10 Finland
Complex partial epileptic seizure with secondary generalization
18.5
15.8
24
15
N03AX11
ATC
topiramate; oral
14.5
15.5
26
21
N03AG01
ATC
valproic acid; systemic, rectal
7.4
14.6
36
60
G40.20
ICD-10 Finland
Complex partial seizures with only alteration of consciousness
47.2
14.4
17
*
Q04.00
ICD-10 Finland
Agenesis of corpus callosum
+∞
13.7
13
*
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
17.0
13.5
21
14
AA1AD
NOMESCO Finland
CT of head and brain
4.7
12.8
49
138
N05CD08
ATC
midazolam; nasal, systemic
11.5
12.5
23
23
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
6.3
12.4
34
65
G40.4
ICD-10 Finland
Other generalized epilepsy and epileptic syndromes
23.4
10.9
15
7
XA800
NOMESCO Finland
Neuropsychological investigation
5.5
10.0
30
64
R56.8
ICD-10 Finland
Other and unspecified convulsions
6.0
9.8
27
52
N05BA01
ATC
diazepam; systemic, rectal
4.5
9.5
35
93
R62.0
ICD-10 Finland
Delayed milestone
7.3
9.3
22
34
G40.12
ICD-10 Finland
Simple partial seizures with secondary generalization
16.9
9.2
14
9
N03AX09
ATC
lamotrigine; oral
5.7
8.8
25
50
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.5
8.6
31
81
F83
ICD-10 Finland
Mixed specific developmental disorders
7.2
8.5
20
31
G80.2
ICD-10 Finland
Spastic hemiplegic cerebral palsy
+∞
8.4
8
*
AAJ20
NOMESCO Finland
Excision of epileptic focus
+∞
8.4
8
*
Q04.08
ICD-10 Finland
Congenital malformations of corpus callosum
+∞
8.4
8
*
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
6.5
8.3
21
36
F82
ICD-10 Finland
Specific developmental disorder of motor function
9.7
8.3
16
18
F70.0
ICD-10 Finland
Mild mental retardation, With the statement of no, or minimal, impairment of behaviour
18.4
8.2
12
7
H47.2
ICD-10 Finland
Optic atrophy
35.3
8.2
10
*
G40.10
ICD-10 Finland
Simple partial seizures
23.4
8.1
11
5
N03AX18
ATC
lacosamide; systemic
14.0
8.0
13
10
G40.09
ICD-10 Finland
Other or unspecified partial (focal) idiopathic epilepsy or epileptic syndrome with local onset
47.3
7.8
9
*
N03AX15
ATC
zonisamide; oral
19.5
7.7
11
6
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.1
7.4
29
82
P85
ICPC
Mental retardation
16.7
7.3
11
7
N03AG04
ATC
vigabatrin; oral
21.2
7.2
10
5
G40.19
ICD-10 Finland
Localization-related (focal)(partial) symptomatic epilepsy and epileptic syndromes with simple partial seizures
21.2
7.2
10
5
N03AF01
ATC
carbamazepine; oral, rectal
7.0
6.8
16
25
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
41.9
6.8
8
*
F71.0
ICD-10 Finland
Moderate mental retardation, with the statement of no, or minimal, impairment of behaviour
41.9
6.8
8
*
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
41.9
6.8
8
*
N03AX22
ATC
perampanel; oral
23.7
6.7
9
*
AA1CM
NOMESCO Finland
Extensive MRI examination of brain with 3 Tesla magnet
13.0
6.7
11
9
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.9
6.5
42
172
7819X
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Other symptoms involving nervous and musculoskeletal systems[SYMPTOMATA ALIA SYSTEMATIS NERVORUM ET MUSCULOSCEL]
72.6
6.5
7
*
N03AX23
ATC
brivaracetam; systemic
72.6
6.5
7
*
H52.2
ICD-10 Finland
Astigmatism
8.7
6.5
13
16
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
6.5
52
244
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
3.7
6.4
27
82
181
Kela drug reimbursment
Retigabine and vigabatrin
18.9
6.3
9
5
G40.89
ICD-10 Finland
Other epilepsy
27.9
6.3
8
*
Q04.4
ICD-10 Finland
Septo-optic dysplasia
+∞
6.3
6
*
AAF40
NOMESCO Finland
Shunt of cyst of brain to peritoneum
+∞
6.3
6
*
H50.0
ICD-10 Finland
Convergent concomitant strabismus
10.6
6.1
11
11

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
81
486
2.22
6.28
5.2
6.7
37.64
36.77
g/l
0.80
76
466
96
628
2.15
5.87
12.6
11.0
1.22
1.23
mmol/l
0.05
86
563
64
368
2.15
5.36
1.5
1.7
106.48
95.89
pmol/l
0.77
35
192
163
1368
3.27
5.04
19.0
13.3
139.05
139.61
mmol/l
1.38
157
1325
162
1371
3.02
4.61
17.6
13.3
3.99
3.96
mmol/l
0.62
155
1323
7
5
14.49
4.61
2.9
2.8
26.29
16.36
umol/l
—
7
5
26
112
2.55
4.16
1.3
1.4
1222.18
1120.63
nmol/l
0.24
18
89
7
7
10.34
4.04
2.6
3.3
19.71
22.56
umol/l
—
7
7
7
8
9.05
3.80
2.1
4.8
—
—
—
0
0
165
1447
2.92
3.67
10.8
9.1
27.63
26.66
u/l
0.27
160
1404
6
7
8.81
3.29
1.3
1.1
—
—
—
0
0
61
399
1.80
3.27
2.2
3.1
2.37
2.37
mmol/l
0.14
54
355
40
228
1.97
3.27
1.7
1.4
24.27
22.27
nmol/l
0.28
35
201
22
100
2.37
3.15
2.9
4.9
57.36
71.29
e9/l
1.44
12
73
9
21
4.45
3.04
1.8
1.9
12.16
15.99
umol/l
—
9
21
63
425
1.75
3.01
5.3
8.3
—
—
—
0
0
30
162
2.02
2.84
2.1
2.7
2.41
2.43
mmol/l
0.69
24
141
111
886
1.67
2.75
8.5
10.8
3.79
3.75
e9/l
0.06
95
752
102
797
1.66
2.74
7.8
7.4
0.57
0.56
e9/l
0.11
85
680
102
800
1.64
2.68
7.8
7.4
0.04
0.04
e9/l
0.18
85
685
94
723
1.64
2.66
8.7
10.0
0.01
0.00
e9/l
0.49
74
559
48
310
1.75
2.63
5.2
3.6
7.39
7.40
ph
0.54
11
44
104
823
1.63
2.61
7.7
7.4
2.25
2.16
e9/l
0.28
87
720
6
11
5.60
2.56
2.5
2.4
1.06
1.12
umol/l
—
6
11
13
51
2.67
2.50
1.5
4.3
426.23
429.94
mg/l
0.01
13
51
33
195
1.85
2.41
7.3
11.6
0.94
1.14
mmol/l
0.15
27
144
29
166
1.89
2.33
1.8
1.6
—
—
—
0
0
103
827
1.58
2.33
8.0
8.1
0.17
0.20
e9/l
1.64
88
716
12
47
2.67
2.32
1.6
5.0
—
—
—
0
0
6
13
4.73
2.29
2.0
1.2
—
—
—
0
0
7
18
4.00
2.27
1.4
3.4
—
—
—
0
0
18
89
2.14
2.14
2.3
2.0
17.25
18.92
iu/l
0.07
11
69
17
83
2.16
2.09
2.3
2.1
7.86
7.74
u/l
—
10
62
28
165
1.83
2.06
1.5
1.4
549.67
447.09
pmol/l
0.62
21
144
31
189
1.78
2.05
8.7
12.1
—
—
—
0
0
56
401
1.58
2.02
2.6
2.7
—
—
—
0
0
7
21
3.43
1.98
2.7
5.3
—
—
—
0
0
5
11
4.64
1.95
1.2
1.6
1.72
1.54
mmol/l
—
5
11
6
16
3.84
1.95
1.5
3.3
—
—
—
0
0
15
72
2.18
1.92
1.1
1.1
—
—
—
0
0
17
306
0.51
1.92
1.5
1.8
—
—
—
0
0
40
267
1.64
1.91
3.1
4.6
—
—
—
0
0
124
1067
1.53
1.85
3.9
3.7
14.45
14.41
pmol/l
0.07
113
993
163
1506
1.98
1.77
14.6
9.4
—
—
—
0
0
23
136
1.79
1.69
3.3
4.0
0.22
0.21
g/l
0.20
23
129
18
99
1.91
1.64
1.1
1.5
—
—
—
0
0
109
926
1.46
1.63
7.5
6.4
97.33
98.24
u/l
0.04
101
866
7
26
2.76
1.59
1.7
6.0
—
—
—
0
0
6
20
3.07
1.59
6.2
2.2
289.67
289.77
mosm/kgh2o
—
6
13
10
44
2.35
1.56
10.1
7.9
—
—
—
0
0
5
16
3.18
1.45
1.8
1.9
—
—
—
0
0
69
549
1.42
1.43
8.6
8.0
—
—
—
0
0
139
1255
1.49
1.39
4.2
4.2
1.78
2.85
mu/l
0.59
124
1173
6
23
2.66
1.38
1.2
1.0
—
—
—
0
0
43
315
1.48
1.37
3.7
3.3
—
—
—
0
0
14
77
1.89
1.29
3.0
3.5
—
—
—
0
0
127
1134
1.42
1.29
4.2
3.4
5.57
5.69
mmol/l
0.60
114
1048
34
240
1.52
1.29
3.6
2.9
—
—
—
0
0
29
198
1.56
1.27
19.9
15.7
23.49
24.77
mmol/l
1.88
29
198
91
771
1.37
1.26
7.8
7.4
2.56
2.96
%
1.24
86
723
11
56
2.03
1.25
11.1
16.2
92.95
94.56
%
0.25
11
56
15
87
1.79
1.19
4.1
5.4
0.50
0.50
%
—
6
16
77
641
1.35
1.17
4.5
3.2
0.00
0.00
estimate
0.00
12
112
15
88
1.77
1.15
4.3
5.8
0.00
0.23
%
—
7
22
155
1448
1.55
1.13
15.0
11.4
25.11
22.18
mg/l
0.47
123
1044
10
51
2.02
1.13
2.1
1.6
—
—
—
0
0
43
330
1.40
1.07
4.5
2.4
—
—
—
0
0
9
45
2.05
1.06
2.2
3.2
—
—
—
0
0
49
385
1.38
1.06
8.4
5.3
1.17
1.17
inr
0.00
17
106
42
322
1.40
1.05
5.7
3.4
0.00
0.01
estimate
0.50
12
115
7
34
2.10
1.04
1.1
2.6
—
—
—
0
0
16
99
1.68
1.04
4.2
5.4
0.50
0.75
%
—
8
28
5
22
2.31
1.04
11.4
5.0
—
—
—
0
0
76
642
1.32
1.02
6.1
4.6
0.00
0.00
estimate
0.00
12
117
7
35
2.04
1.01
7.0
6.7
—
—
—
0
0
46
361
1.37
1.00
4.2
2.7
17.22
42.30
ng/l
0.85
30
182
7
37
1.93
0.95
1.6
5.5
—
—
—
0
0
6
27
2.26
0.94
1.7
1.0
—
—
—
0
0
16
102
1.62
0.94
10.1
15.8
14.16
13.58
kpa
0.17
16
97
16
102
1.62
0.94
10.3
15.8
5.43
5.22
kpa
0.21
16
96
24
169
1.49
0.93
15.1
9.4
—
—
—
0
0
76
649
1.30
0.93
4.7
3.2
0.00
0.00
estimate
0.00
13
113
26
187
1.46
0.92
1.3
1.5
470.00
378.29
titre
—
8
35
88
767
1.29
0.92
3.1
2.9
—
—
—
0
0
61
507
1.31
0.90
3.5
3.1
—
—
—
0
0
38
295
1.37
0.88
3.9
3.0
1.01
1.02
kg/l
—
10
42
14
88
1.64
0.87
4.4
5.8
0.00
0.05
%
—
7
19
171
1658
1.80
0.81
23.5
16.7
4.50
4.59
e12/l
1.31
165
1601
171
1659
1.78
0.81
23.5
16.8
6.64
6.71
e9/l
0.17
166
1600
0
24
0.00
0.80
0.0
1.5
—
—
—
0
0
0
25
0.00
0.79
0.0
1.0
—
—
—
0
0
0
26
0.00
0.79
0.0
1.4
—
—
—
0
0
12
184
0.63
0.79
1.5
1.3
—
—
—
0
0
5
26
1.95
0.71
1.2
2.2
—
—
—
0
0
5
26
1.95
0.71
1.2
2.2
—
—
—
0
0
5
26
1.95
0.71
1.2
2.2
—
—
—
0
0
5
26
1.95
0.71
1.2
2.2
—
—
—
0
0
5
28
1.81
0.66
1.0
1.3
—
—
—
0
0
22
164
1.39
0.66
3.7
2.7
2.47
2.51
g/l
0.14
22
152
12
79
1.56
0.64
1.7
2.2
—
—
—
0
0
52
442
1.25
0.63
1.9
1.9
—
—
—
0
0
5
30
1.69
0.62
1.0
1.1
—
—
—
0
0
24
306
0.75
0.61
1.5
1.7
—
—
—
0
0
8
53
1.53
0.59
13.5
13.3
—
—
—
0
0
8
53
1.53
0.59
2.8
2.1
—
—
—
0
0
31
249
1.30
0.59
2.6
2.4
284.91
77.14
ug/g
1.18
23
197
8
55
1.48
0.57
1.6
1.7
—
—
—
0
0
30
242
1.29
0.56
2.9
3.7
2.81
8.43
mg/mmol
1.61
19
161
6
39
1.56
0.53
1.0
1.1
—
58.84
—
0
10
29
236
1.27
0.51
5.1
3.3
0.79
1.97
e6/l
1.02
13
132
7
46
1.54
0.49
1.1
1.5
—
—
—
0
0
7
49
1.45
0.46
1.6
1.7
—
—
—
0
0
38
324
1.22
0.45
8.6
5.0
—
—
—
0
0
7
51
1.39
0.44
2.1
1.8
—
—
—
0
0
20
158
1.30
0.44
2.8
2.4
—
—
—
0
0
32
375
0.82
0.42
2.8
1.9
—
—
—
0
0
0
16
0.00
0.41
0.0
1.0
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
12
89
1.37
0.39
2.9
3.2
—
—
—
0
0
8
114
0.69
0.38
1.4
1.4
—
—
—
0
0
50
447
1.16
0.36
1.4
1.6
—
—
—
0
0
54
486
1.16
0.36
7.6
4.2
128.31
45.11
e6/l
0.56
36
332
41
459
0.86
0.32
2.4
2.3
—
—
—
0
0
15
121
1.26
0.29
2.6
2.1
8.34
13.43
nmol/l
—
10
110
7
57
1.24
0.29
1.4
1.9
—
—
—
0
0
10
129
0.76
0.29
1.4
1.8
—
—
—
0
0
8
64
1.26
0.28
1.4
1.1
—
—
—
0
0
142
1378
1.15
0.27
18.9
15.0
334.74
334.66
g/l
0.03
142
1370
23
197
1.19
0.27
1.7
1.5
—
—
—
0
0
27
235
1.18
0.27
2.7
3.1
27.97
630.36
mg/l
0.95
18
158
39
350
1.15
0.27
4.8
2.7
—
—
—
0
0
9
74
1.23
0.25
1.2
1.2
—
—
—
0
0
11
137
0.79
0.25
1.3
1.2
—
—
—
0
0
52
479
1.12
0.25
1.2
1.5
1.19
1.08
u/ml
0.05
17
104
5
41
1.23
0.22
3.2
5.1
4.82
16.34
umol/l
—
5
35
109
1049
1.10
0.22
4.9
4.2
35.73
37.91
mmol/mol
2.64
100
989
42
385
1.12
0.21
6.2
3.6
0.31
0.39
e6/l
0.18
32
286
95
909
1.10
0.21
6.0
3.8
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
212.44
—
0
11
0
10
0.00
0.21
0.0
21.3
—
0.59
—
0
10
0
10
0.00
0.21
0.0
8.1
—
—
—
0
0
9
112
0.79
0.20
2.0
1.7
—
—
—
0
0
48
445
1.11
0.20
1.7
1.6
1.86
1.97
g/l
0.23
26
257
6
49
1.23
0.20
4.2
2.4
—
—
—
0
0
12
99
1.23
0.20
9.0
3.5
—
—
—
0
0
10
122
0.81
0.20
1.7
1.7
—
—
—
0
0
6
51
1.18
0.19
8.8
24.1
—
—
—
0
0
120
1164
1.09
0.19
4.0
3.7
1.39
1.45
mmol/l
0.77
113
1095
6
53
1.14
0.19
1.2
1.1
—
—
—
0
0
20
226
0.87
0.18
2.1
1.7
—
—
—
0
0
117
1135
1.09
0.18
3.7
3.5
1.22
1.27
mmol/l
0.30
109
1072
121
1176
1.09
0.18
4.1
3.8
4.53
4.66
mmol/l
0.73
114
1114
6
75
0.79
0.16
3.2
2.0
—
—
—
0
0
121
1179
1.08
0.16
4.2
3.9
2.75
2.80
mmol/l
0.28
113
1112
45
422
1.09
0.15
6.6
3.5
38.83
32.65
e6/l
0.09
35
323
13
150
0.86
0.15
1.5
1.8
—
—
—
0
0
12
103
1.18
0.14
1.0
1.5
—
—
—
0
0
12
103
1.18
0.14
1.3
1.4
—
—
—
0
0
23
209
1.12
0.14
1.3
1.2
24.70
28.41
iu/ml
—
7
59
10
116
0.85
0.12
1.8
1.7
—
—
—
0
0
16
178
0.89
0.12
1.1
1.2
—
—
—
0
0
15
135
1.12
0.10
1.8
2.3
0.51
0.61
ug/l
—
10
71
5
62
0.80
0.08
1.2
1.1
—
—
—
0
0
12
133
0.90
0.08
1.5
1.4
—
—
—
0
0
9
83
1.09
0.07
1.3
1.4
—
—
—
0
0
144
1455
0.95
0.07
16.0
13.7
39.87
40.13
%
0.26
112
1259
19
201
0.94
0.05
1.3
1.2
4.42
7.98
u/ml
0.42
11
83
40
391
1.03
0.02
6.3
3.5
—
—
—
0
0
12
114
1.06
0.01
1.2
1.2
—
—
—
0
0
10
101
0.99
0.00
1.8
1.8
—
—
—
0
0
26
264
0.98
0.00
2.4
3.8
0.71
1.18
mg/l
0.69
20
212
18
181
0.99
0.00
1.9
3.2
25.08
427.02
ng/l
2.04
12
117
12
123
0.97
0.00
1.7
1.7
—
—
—
0
0
12
122
0.98
0.00
1.7
1.7
—
—
—
0
0
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.9
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
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
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
29.00
—
0
5
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
12
120
1.00
0.00
1.7
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
0.00
0.0
13.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
5.2
—
—
—
0
0
0
8
0.00
0.00
0.0
3.3
—
—
—
0
0
5
57
0.87
0.00
1.4
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
4.2
—
45.60
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
2.66
—
0
7
0
7
0.00
0.00
0.0
3.1
—
—
—
0
0
0
5
0.00
0.00
0.0
15.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
1857.50
—
0
6

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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