Congenital malformations of spine and bony thorax

Q17_CONGEN_MALFO_SPINE_BONY_THORAX

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 Q76
  • Cause of death: ICD-10 Q76

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

217

4. Check minimum number of events

None

217

5. Include endpoints

None

217

6. Filter based on genotype QC (FinnGen only)

217

Control definitions (FinnGen only)

Control exclude
Q17_CONGEN_MALFO_DEFORMAT_MUSCULOS_SYSTEM

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q6[5-9]|Q7
Name in latin
Malformationes congenitae columnae vertebralis et ossium thoracis

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 2337 1195 1137
Only index persons 2038 1078 960
Unadjusted period prevalence (%)
Whole population 0.03 0.03 0.03
Only index persons 0.04 0.04 0.04
Median age at first event (years)
Whole population 14.46 15.32 13.42
Only index persons 15.67 16.60 14.63

-FinnGen-

Key figures

All Female Male
Number of individuals 217 139 78
Unadjusted period prevalence (%) 0.04 0.05 0.03
Median age at first event (years) 25.96 30.86 17.24

-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
190
Matched controls
1899
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q76.30
ICD-10 Finland
Hemivertebra fusion or failure of segmentation with scoliosis
+∞
53.7
49
*
Q76.48
ICD-10 Finland
Congenital anomalies of other vertebrae, not associated with scoliosis
+∞
38.9
36
*
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
29.5
31.3
42
18
Q76.1
ICD-10 Finland
Klippel-Feil syndrome
+∞
27.8
26
*
Q76.38
ICD-10 Finland
Congenital scoliosis due to other specified congenital bony malformation
+∞
26.7
25
*
Q76.9
ICD-10 Finland
Congenital malformation of bony thorax, unspecified
+∞
20.2
19
*
Q76.3
ICD-10 Finland
Congenital scoliosis due to congenital bony malformation
+∞
16.9
16
*
N06AX21
ATC
duloxetine; oral
6.9
16.8
44
79
N03AX12
ATC
gabapentin; oral
5.9
16.0
48
103
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
21.3
14.6
21
11
N02AX02
ATC
tramadol; systemic, rectal
3.6
14.0
84
345
Q79.6
ICD-10 Finland
Ehlers-Danlos syndrome
+∞
13.7
13
*
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
7.1
12.5
31
51
N03AX16
ATC
pregabalin; oral
4.0
11.9
53
168
NAG53
NOMESCO Finland
Posterior or lateral fusion of thoracic spine with fixation, more than 3 vertebraea
69.4
11.8
13
*
M41.9
ICD-10 Finland
Scoliosis, unspecified
16.8
11.1
17
11
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
8.2
10.9
24
33
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
9.7
10.6
21
24
Q76.0
ICD-10 Finland
Spina bifida occulta
+∞
10.5
10
*
WX408
NOMESCO Finland
General anesthesy, balanced
3.0
10.4
76
347
M79.0
ICD-10 Finland
Rheumatism, unspecified
13.2
10.1
17
14
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
4.0
9.8
42
127
UKC02
NOMESCO Finland
Cystoscopy
5.3
9.8
30
65
Q87.26
ICD-10 Finland
VATER association
+∞
9.4
9
*
Q76.5
ICD-10 Finland
Cervical rib
+∞
9.4
9
*
Q76.68
ICD-10 Finland
Other congenital malformations of ribs
+∞
9.4
9
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
5.0
8.7
28
64
Z31.5
ICD-10 Finland
Genetic counselling
4.8
8.7
29
69
XKC03
NOMESCO Finland
Water cystometry
17.3
8.7
13
8
NA1EA
NOMESCO Finland
Cervical spine X-ray examination with flexion
13.6
8.5
14
11
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
4.3
8.4
31
82
Z01.0
ICD-10 Finland
Examination of eyes and vision
3.3
8.3
45
164
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.3
8.3
31
83
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
3.3
8.2
44
158
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.8
8.1
35
107
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.5
8.1
81
431
N06AA09
ATC
amitriptyline; systemic
5.1
8.1
25
55
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
5.5
8.0
23
46
TPH07
NOMESCO Finland
Cathetrisation of artery
4.2
7.9
30
81
M54.2
ICD-10 Finland
Cervicalgia
5.1
7.8
24
52
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.1
7.6
43
162
R4110
NOMESCO Finland
Physiotherapy
2.6
7.5
65
316
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
4.8
7.4
24
56
Q76.2
ICD-10 Finland
Congenital spondylolisthesis
+∞
7.3
7
*
Q76.42
ICD-10 Finland
Congenital anomalies of sacral vetebrae
+∞
7.3
7
*
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
16.6
7.3
11
7
N03AE01
ATC
clonazepam; systemic
6.1
7.3
19
34
M54.5
ICD-10 Finland
Low back pain
2.5
7.3
68
345
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
8.0
7.0
15
20
J45.9
ICD-10 Finland
Asthma, unspecified
3.0
6.9
43
171
Z01.8
ICD-10 Finland
Other specified special examinations
2.8
6.9
48
204
NA7CG
NOMESCO Finland
Spine and spinal cord extensive MRI examination with high intensity magnet
17.5
6.8
10
6
M41.5
ICD-10 Finland
Other secondary scoliosis
41.6
6.8
8
*
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
6.9
6.8
16
25
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
4.4
6.8
24
61
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
23.5
6.7
9
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
15.0
6.5
10
7
ZXA05
NOMESCO Finland
Left side
2.7
6.4
48
212
M35.7
ICD-10 Finland
Hypermobility syndrome
9.8
6.4
12
13
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.5
6.4
55
265
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
18.8
6.3
9
5
R1210
NOMESCO Finland
Medical assessment of need and possibilities to rehabilitation
18.8
6.3
9
5
UGC12
NOMESCO Finland
Flexible bronchoscopy
6.1
6.3
16
28
M23.5
ICD-10 Finland
Chronic instability of knee
+∞
6.3
6
*
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
6.3
6
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
6.3
6
*
Q76.40
ICD-10 Finland
Congenital absence of vertebrae without scoliosis
+∞
6.3
6
*
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
8.1
6.2
13
17
M54.6
ICD-10 Finland
Pain in thoracic spine
4.4
6.1
21
52
J45.8
ICD-10 Finland
Mixed asthma
7.7
6.0
13
18
TPH04
NOMESCO Finland
Cathetrisation of vein
2.6
6.0
46
206

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
45
205
2.51
6.38
3.3
2.4
—
—
—
0
0
31
120
2.85
6.03
11.2
14.1
97.1
95.8
%
0.82
31
114
33
136
2.68
5.71
10.8
12.6
5.5
5.3
kpa
0.65
33
130
33
136
2.68
5.71
10.8
12.6
15.4
13.9
kpa
0.48
33
130
82
509
1.98
5.34
3.1
2.4
—
—
—
0
0
20
66
3.24
5.09
13.5
18.3
—
—
—
0
0
27
107
2.74
5.02
12.0
13.1
120.5
122.9
g/l
0.25
27
102
39
185
2.35
5.02
15.8
10.6
—
—
—
0
0
63
370
1.99
4.72
4.8
3.4
—
—
—
0
0
37
178
2.30
4.61
2.8
2.5
20.1
23.8
%
0.73
31
154
27
112
2.61
4.60
1.7
4.1
69.6
65.9
e9/l
0.21
21
85
43
226
2.13
4.31
1.6
1.5
148837639.7
474.7
pmol/l
0.49
43
196
129
973
1.80
4.28
9.8
7.7
0.2
0.2
e9/l
1.48
121
869
93
645
1.77
4.04
8.0
7.6
—
—
—
0
0
58
351
1.89
3.91
3.4
2.8
1.0
0.8
mg/l
0.38
45
262
103
746
1.72
3.78
14.9
8.7
1.2
1.2
mmol/l
0.74
98
646
19
73
2.76
3.75
13.8
10.0
—
—
—
0
0
54
327
1.87
3.61
5.8
4.2
—
—
—
0
0
12
37
3.37
3.39
1.2
4.3
—
—
—
0
0
38
209
1.99
3.36
14.6
7.8
1.8
1.5
mmol/l
0.25
32
161
53
328
1.81
3.29
4.8
2.8
517.8
569.1
mosm/kgh2o
0.87
46
277
36
196
2.00
3.27
1.5
1.6
1166.4
1161.4
nmol/l
0.01
30
149
72
488
1.71
3.27
5.8
5.9
1.0
1.2
inr
4.30
19
146
23
107
2.29
3.09
1.4
2.0
8.1
9.2
u/l
0.17
18
82
146
1200
1.66
3.05
9.2
6.7
85.1
87.7
u/l
0.24
138
1119
107
815
1.62
3.04
5.4
4.8
0.0
0.0
estimate
0.00
18
162
37
597
0.54
2.93
2.0
2.4
—
—
—
0
0
131
1056
1.61
2.89
10.5
10.2
4.1
3.9
e9/l
0.34
125
925
107
824
1.59
2.85
4.1
3.4
0.0
0.0
estimate
0.00
18
156
106
815
1.59
2.84
4.2
3.4
0.0
0.0
estimate
0.00
18
159
71
496
1.64
2.82
2.9
2.9
2.4
2.4
mmol/l
0.35
62
446
10
31
3.33
2.81
2.2
5.5
—
—
—
0
0
9
23
4.04
2.80
1.3
1.1
—
—
—
0
0
60
408
1.65
2.63
3.4
2.7
3.3
2.8
mg/l
0.76
52
354
53
350
1.68
2.59
4.8
2.8
6.7
5.3
e6/l
0.29
47
304
87
650
1.56
2.58
4.0
3.1
—
—
—
0
0
13
51
2.65
2.49
17.6
13.5
2.1
1.6
%
0.82
13
46
13
51
2.65
2.49
3.5
2.5
—
—
—
0
0
141
1180
1.56
2.46
6.2
4.1
—
—
—
0
0
26
141
1.96
2.40
12.0
5.6
—
—
—
0
0
21
106
2.09
2.35
5.4
3.7
—
—
—
0
0
32
188
1.82
2.33
3.1
1.5
—
—
—
0
0
61
428
1.59
2.33
4.6
3.6
0.0
0.0
estimate
0.50
16
160
65
467
1.56
2.24
4.4
2.5
—
—
—
0
0
69
504
1.54
2.21
2.2
1.8
90.7
94.3
pmol/l
0.26
42
252
38
242
1.69
2.11
4.0
3.2
1721.3
373.8
ng/l
0.95
23
139
116
951
1.47
2.09
10.6
5.8
6.4
6.5
mmol/l
0.04
110
852
78
591
1.50
2.09
7.5
4.1
44.8
38.1
e6/l
0.13
58
412
5
10
5.09
2.08
1.0
1.0
880.4
1654.5
miu/ml
—
5
10
63
457
1.53
2.06
7.2
3.3
—
—
—
0
0
22
119
1.94
2.06
7.3
5.6
47.9
61.2
ng/l
0.88
22
111
8
26
3.15
2.03
2.5
3.8
—
—
—
0
0
46
316
1.58
1.90
2.6
2.9
150.7
112.9
ug/g
0.20
30
234
95
760
1.44
1.89
5.4
6.8
11.0
10.4
umol/l
0.15
90
715
11
46
2.47
1.88
1.4
3.7
198.1
372.2
e6/l
0.35
11
36
11
46
2.47
1.88
1.2
3.6
1.2
3.2
e6/l
1.30
11
35
62
457
1.50
1.87
7.2
3.4
0.5
0.2
e6/l
0.27
52
346
201
1878
1.95
1.84
16.9
9.8
—
—
—
0
0
28
172
1.72
1.78
1.6
1.6
—
—
—
0
0
42
288
1.57
1.75
1.2
1.2
5.2
6.8
u/ml
0.13
21
105
8
30
2.73
1.74
46.4
12.8
—
—
—
0
0
144
1261
1.42
1.65
4.7
4.3
8.4
9.1
mm/h
0.41
138
1168
22
129
1.79
1.64
2.2
2.3
—
18.2
—
0
6
53
389
1.48
1.62
4.5
3.1
1.0
1.0
kg/l
—
8
59
8
32
2.56
1.61
2.6
1.6
—
—
—
0
0
11
50
2.26
1.60
8.4
4.8
—
—
—
0
0
59
446
1.44
1.55
4.5
3.5
7.4
8.5
mmol/l
0.96
54
398
21
124
1.77
1.54
1.7
2.2
10.0
12.2
nmol/l
0.53
16
109
7
27
2.64
1.53
1.4
1.2
—
—
—
0
0
104
870
1.38
1.52
10.0
9.5
0.0
0.0
e9/l
0.49
94
694
62
479
1.41
1.44
7.7
8.0
—
—
—
0
0
10
46
2.23
1.42
1.2
1.3
—
—
—
0
0
9
40
2.30
1.42
23.6
16.5
1.1
1.2
mmol/l
—
9
35
14
75
1.93
1.38
4.6
1.8
—
—
—
0
0
6
23
2.65
1.37
3.5
2.1
—
—
—
0
0
115
990
1.34
1.35
3.5
3.0
—
—
—
0
0
41
297
1.47
1.34
1.3
1.3
37.7
32.0
iu/ml
0.11
11
80
25
162
1.61
1.33
1.5
1.4
—
—
—
0
0
6
135
0.43
1.32
1.5
1.4
—
—
—
0
0
192
1801
1.57
1.32
19.6
11.5
23.0
20.9
mg/l
0.40
163
1319
60
468
1.39
1.31
4.2
3.2
22.9
31.6
ng/l
0.34
36
243
63
497
1.38
1.29
7.2
3.5
24.7
40.5
e6/l
0.60
53
385
16
92
1.80
1.29
2.5
1.9
—
—
—
0
0
13
70
1.91
1.27
2.2
1.5
—
—
—
0
0
0
36
0.00
1.15
0.0
1.1
—
—
—
0
0
34
245
1.46
1.15
1.5
1.6
400.0
550.2
titre
—
8
49
7
34
2.09
1.04
6.1
4.3
61.3
54.3
%
—
7
34
7
34
2.09
1.04
6.1
4.1
3.5
3.8
e9/l
—
7
34
18
115
1.62
1.03
4.0
4.6
—
—
—
0
0
9
48
1.91
1.02
7.1
7.3
—
—
—
0
0
52
414
1.34
1.00
5.4
3.8
7.4
7.4
ph
—
5
74
10
54
1.89
0.98
2.2
1.6
—
—
—
0
0
44
343
1.35
0.97
4.4
3.4
—
—
—
0
0
53
426
1.32
0.95
6.1
4.9
—
—
—
0
0
15
94
1.64
0.93
1.9
2.7
66.2
66.3
g/l
0.02
15
89
14
87
1.65
0.90
30.6
7.4
131.2
131.6
g/l
0.02
14
87
8
44
1.85
0.87
4.0
5.0
26.3
24.7
mmol/l
—
8
38
42
332
1.33
0.85
3.9
4.0
5.2
12.2
mg/mmol
1.13
29
229
23
165
1.44
0.82
1.3
1.3
36.8
149.3
iu/ml
—
6
65
6
34
1.79
0.77
6.3
3.5
3.7
3.8
mmol/l
—
6
28
0
28
0.00
0.76
0.0
6.0
—
—
—
0
0
191
1833
1.35
0.70
11.8
9.3
25.1
26.0
u/l
0.36
191
1763
7
42
1.69
0.69
1.3
1.2
—
—
—
0
0
5
28
1.80
0.66
1.2
1.7
283.6
286.5
mosm/kgh2o
—
5
17
62
535
1.22
0.63
1.7
1.5
1.7
2.0
g/l
1.29
43
295
10
63
1.62
0.63
3.1
2.7
—
—
—
0
0
0
21
0.00
0.60
0.0
1.3
—
—
—
0
0
20
149
1.38
0.60
2.4
2.6
7259.5
3694.6
u/l
0.21
13
61
24
186
1.33
0.57
1.5
1.2
—
—
—
0
0
163
1549
1.21
0.56
4.0
4.0
2.7
2.8
mmol/l
1.25
157
1446
9
134
0.66
0.53
1.6
1.6
—
—
—
0
0
6
39
1.55
0.53
1.5
1.2
—
—
—
0
0
38
319
1.23
0.50
3.9
3.4
32.3
260.9
mg/l
0.69
28
227
15
110
1.39
0.50
2.2
1.8
—
—
—
0
0
14
103
1.38
0.46
1.2
1.4
—
—
—
0
0
16
207
0.75
0.45
1.1
1.3
—
—
—
0
0
10
69
1.47
0.45
2.0
1.1
—
—
—
0
0
160
1531
1.17
0.44
3.6
3.7
1.4
1.5
mmol/l
0.49
154
1427
10
70
1.45
0.42
1.5
3.3
0.2
0.1
e6/l
—
10
70
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
207
2033
1.39
0.40
26.7
16.8
263.1
259.8
e9/l
0.30
207
1984
34
290
1.20
0.40
1.3
1.6
—
—
—
0
0
0
19
0.00
0.39
0.0
4.1
—
55.9
—
0
19
9
68
1.34
0.38
1.1
1.1
—
—
—
0
0
207
2035
1.37
0.37
26.5
16.7
89.4
89.3
fl
0.17
207
2006
207
2035
1.37
0.37
26.6
16.7
29.9
29.9
pg
0.03
207
2005
156
1498
1.15
0.37
4.0
3.6
5.7
5.7
mmol/l
0.14
151
1377
207
2036
1.36
0.36
26.7
16.8
4.5
4.6
e12/l
0.09
207
1980
154
1480
1.14
0.35
3.4
3.4
1.2
1.3
mmol/l
0.10
149
1377
207
2037
1.35
0.34
26.9
17.0
134.6
135.4
g/l
0.38
207
2009
6
46
1.31
0.33
2.2
1.6
0.3
0.3
nmol/l
—
6
37
207
2039
1.33
0.32
26.7
16.8
6.7
6.7
e9/l
0.09
207
1981
7
99
0.70
0.31
1.3
1.7
—
—
—
0
0
20
166
1.23
0.31
1.5
1.2
—
—
—
0
0
171
1661
1.14
0.30
21.4
14.6
333.6
334.0
g/l
0.28
171
1647
14
112
1.27
0.29
1.3
1.2
—
—
—
0
0
65
600
1.12
0.28
1.4
1.6
0.5
1.7
u/ml
1.81
16
136
31
351
0.86
0.28
1.6
1.7
—
—
—
0
0
14
171
0.81
0.27
1.8
1.4
—
—
—
0
0
8
67
1.20
0.26
1.4
1.8
—
—
—
0
0
6
82
0.72
0.24
1.0
1.1
—
—
—
0
0
5
41
1.22
0.22
1.6
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
2.9
—
648.0
—
0
5
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.1
—
—
—
0
0
0
13
0.00
0.21
0.0
1.9
—
1.1
—
0
13
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
17
147
1.17
0.18
4.1
1.6
—
—
—
0
0
26
233
1.13
0.18
1.2
1.2
—
—
—
0
0
14
119
1.19
0.18
4.7
1.6
—
—
—
0
0
16
138
1.17
0.18
4.2
1.6
—
—
—
0
0
13
152
0.85
0.17
3.5
3.5
—
—
—
0
0
5
68
0.73
0.17
1.8
1.8
257.6
168.6
u/ml
—
5
38
17
149
1.15
0.16
4.1
1.6
—
—
—
0
0
17
150
1.14
0.15
4.1
1.6
—
—
—
0
0
60
570
1.07
0.14
1.8
2.1
—
—
—
0
0
8
96
0.83
0.14
1.5
1.5
—
—
—
0
0
8
96
0.83
0.14
1.5
1.5
—
—
—
0
0
8
100
0.79
0.14
1.5
1.6
—
—
—
0
0
10
85
1.18
0.12
4.8
5.9
0.2
0.2
g/l
—
5
51
49
468
1.06
0.10
1.6
1.8
—
—
—
0
0
35
368
0.94
0.08
1.6
1.8
—
—
—
0
0
5
62
0.80
0.08
3.0
2.1
—
—
—
0
0
176
1777
0.95
0.07
20.0
12.7
39.4
40.1
%
0.67
139
1477
10
112
0.89
0.07
1.0
1.1
—
—
—
0
0
62
604
1.04
0.06
2.2
1.9
—
—
—
0
0
16
171
0.93
0.05
1.7
1.5
—
—
—
0
0
57
580
0.98
0.02
1.6
1.7
—
—
—
0
0
48
471
1.02
0.02
2.6
3.0
—
—
—
0
0
14
147
0.95
0.01
4.7
1.6
—
—
—
0
0
11
111
0.99
0.00
1.9
1.6
—
—
—
0
0
10
97
1.03
0.00
1.0
1.2
—
—
—
0
0
10
96
1.04
0.00
1.4
1.2
—
—
—
0
0
21
215
0.97
0.00
2.3
2.0
—
—
—
0
0
6
64
0.94
0.00
1.7
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
5
50
1.00
0.00
1.2
1.6
0.9
0.6
nmol/l
—
5
43
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
1770.7
—
0
7
0
5
0.00
0.00
0.0
2.4
—
129.2
—
0
5
0
6
0.00
0.00
0.0
1.0
—
4.8
—
0
6
0
7
0.00
0.00
0.0
4.7
—
52.3
—
0
7
5
53
0.94
0.00
1.4
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
6
67
0.89
0.00
1.5
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
2.7
—
1.2
—
0
7
0
7
0.00
0.00
0.0
2.9
—
0.8
—
0
7
0
9
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
7.6
—
0
9
0
9
0.00
-0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint Q17_CONGEN_MALFO_SPINE_BONY_THORAX and mortality.

Females

Parameter HR [95% CI] p-value
Q17_CONGEN_MALFO_SPINE_BONY_THORAX 1.972 [1.38, 2.82] < 0.001
Birth year 0.999 [0.99, 1.01] 0.883

During the follow-up period (1.1.1998 — 31.12.2019), 54 out of 1044 females with Q17_CONGEN_MALFO_SPINE_BONY_THORAX died.

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_SPINE_BONY_THORAX.

N-year risk Females Males
1 0.158% No data
5 1.134% No data
10 2.98% No data
15 6.321% No data
20 11.558% No data

Relationships between endpoints

Index endpoint: Q17_CONGEN_MALFO_SPINE_BONY_THORAX – Congenital malformations of spine and bony thorax

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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