Congenital malformations of spine and bony thorax

Q17_CONGEN_MALFO_SPINE_BONY_THORAX

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 Q76
  • Cause of death: ICD-10 Q76

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

220

4. Check minimum number of events

None

220

5. Include endpoints

None

220

6. Filter based on genotype QC (FinnGen only)

209

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

Similar endpoints

List of similar endpoints to Congenital malformations of spine and bony thorax based on the number of shared cases.

Venn diagram with an highlighted set fully inside another set Similar with more cases:

Venn diagram with a set fully inside an highlighted set Similar with less cases:

None

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 209 134 75
Unadjusted period prevalence (%) 0.04 0.05 0.03
Median age at first event (years) 26.24 31.26 17.27

-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
220
Matched controls
2200
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
52.1
87.7
52
13
Q76.30
ICD-10 Finland
Hemivertebra fusion or failure of segmentation with scoliosis
+∞
62.5
57
*
Q76.48
ICD-10 Finland
Congenital anomalies of other vertebrae, not associated with scoliosis
+∞
45.4
42
*
Q76.38
ICD-10 Finland
Congenital scoliosis due to other specified congenital bony malformation
+∞
34.3
32
*
Q76.1
ICD-10 Finland
Klippel-Feil syndrome
+∞
29.9
28
*
Q76.9
ICD-10 Finland
Congenital malformation of bony thorax, unspecified
+∞
25.5
24
*
N03AX12
ATC
[U] gabapentin; oral
4.7
21.1
59
158
Q76.3
ICD-10 Finland
Congenital scoliosis due to congenital bony malformation
+∞
19.0
18
*
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
5.5
17.8
38
80
N06AX21
ATC
duloxetine; oral
4.6
17.6
48
125
Z31.5
ICD-10 Finland
Genetic counselling
5.3
17.4
39
86
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
21.5
17.3
25
13
Q79.6
ICD-10 Finland
Ehlers-Danlos syndrome
+∞
16.9
16
*
ZXE20
NOMESCO Finland
More than three and less than five hours
4.3
16.5
49
136
WX408
NOMESCO Finland
General anesthesy, balanced
3.3
15.7
88
372
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.0
15.7
38
89
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
14.5
50
154
N02AX02
ATC
tramadol; systemic, rectal
3.0
13.9
99
475
TPH07
NOMESCO Finland
Cathetrisation of artery
4.5
13.8
37
94
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
11.6
13.6
25
24
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
4.9
13.1
31
71
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
5.6
13.0
26
51
M41.9
ICD-10 Finland
Scoliosis, unspecified
18.8
12.8
19
11
Z3226
NOMESCO Finland
Physiotherapist
3.1
12.7
68
275
NAG53
NOMESCO Finland
Posterior or lateral fusion of thoracic spine with fixation, more than 3 vertebraea
74.3
12.7
14
*
UKC02
NOMESCO Finland
Cystoscopy
4.3
12.6
36
96
ZXE30
NOMESCO Finland
More than five and less than seven hours
5.6
12.5
25
49
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
5.5
12.3
25
50
ZXD10
NOMESCO Finland
Scheduled procedure
2.7
11.9
102
529
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
14.7
11.7
19
14
R4120
NOMESCO Finland
Occupational therapy
4.7
11.7
29
69
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.5
11.6
45
149
Q76.0
ICD-10 Finland
Spina bifida occulta
+∞
11.6
11
*
Q76.68
ICD-10 Finland
Other congenital malformations of ribs
+∞
11.6
11
*
N03AX16
ATC
[U] pregabalin
3.1
11.5
58
226
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
4.1
11.4
35
98
M41.5
ICD-10 Finland
Other secondary scoliosis
+∞
10.5
10
*
Q87.26
ICD-10 Finland
VATER association
+∞
10.5
10
*
N02BF01
ATC
gabapentin; oral
4.2
10.1
29
77
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.9
10.1
59
248
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.5
10.0
96
517
N06AA09
ATC
amitriptyline; systemic
4.3
9.9
27
69
N03AE01
ATC
clonazepam; systemic
5.2
9.8
21
44
NA1AD
NOMESCO Finland
Cervical spine CT examination
8.2
9.7
21
28
NA1EA
NOMESCO Finland
Cervical spine X-ray examination with flexion
16.0
9.7
15
10
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
9.5
90
480
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.9
9.5
30
86
R4110
NOMESCO Finland
Physiotherapy
2.5
9.4
78
390
WX882
NOMESCO Finland
High dependency care
4.6
9.2
23
55
TPH04
NOMESCO Finland
Cathetrisation of vein
2.8
9.0
55
235
A28
ICPC
Limited function/disability NOS
3.5
9.0
34
110
M54.2
ICD-10 Finland
Cervicalgia
3.7
8.7
29
86
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
2.9
8.5
47
190
M35.7
ICD-10 Finland
Hypermobility syndrome
13.5
8.5
14
11
L82
ICPC
Congenital anomaly musculoskeletal
+∞
8.4
8
*
Q76.2
ICD-10 Finland
Congenital spondylolisthesis
+∞
8.4
8
*
Q76.42
ICD-10 Finland
Congenital anomalies of sacral vetebrae
+∞
8.4
8
*
UGC12
NOMESCO Finland
Flexible bronchoscopy
4.7
8.3
20
46
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
8.2
62
294
J45.9
ICD-10 Finland
Asthma, unspecified
2.7
8.1
51
221
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.5
8.1
62
296
ZXA05
NOMESCO Finland
Left side
2.7
8.0
52
229
A03FA02
ATC
cisapride; oral, rectal
4.6
7.9
19
44
Z3229
NOMESCO Finland
Other healthcare associate professional
3.2
7.8
33
114
J45.1
ICD-10 Finland
Nonallergic asthma
3.3
7.8
31
103
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
3.8
7.8
25
72
Q76.5
ICD-10 Finland
Cervical rib
46.7
7.8
9
*
N03AX09
ATC
lamotrigine; oral
4.1
7.7
22
58
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
3.7
7.7
25
73
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
26.0
7.6
10
*
M41.8
ICD-10 Finland
Other forms of scoliosis
26.0
7.6
10
*
ZXD05
NOMESCO Finland
Urgent procedure
2.3
7.6
82
455
N06AX16
ATC
venlafaxine; oral
2.8
7.6
42
170
M51.3
ICD-10 Finland
Other specified intervertebral disc degeneration
4.0
7.6
22
59
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
3.5
7.5
27
84
ZX120
NOMESCO Finland
Intravenous
3.3
7.5
30
100
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.8
7.5
43
177
M79.0
ICD-10 Finland
Rheumatism, unspecified
7.3
7.5
17
25
G44.2
ICD-10 Finland
Tension-type headache
2.8
7.4
41
166
L28
ICPC
Limited function/disability (L)
2.9
7.3
37
142
XKC03
NOMESCO Finland
Water cystometry
7.8
7.3
16
22
Q76.40
ICD-10 Finland
Congenital absence of vertebrae without scoliosis
+∞
7.3
7
*
Q25.0
ICD-10 Finland
Patent ductus arteriosus
16.4
7.3
11
7
M54.5
ICD-10 Finland
Low back pain
2.2
7.2
86
494
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.4
7.2
60
297
WX402
NOMESCO Finland
General anaesthesia
2.4
7.1
59
290
M54.6
ICD-10 Finland
Pain in thoracic spine
3.5
7.1
26
82
M01AH01
ATC
celecoxib; oral
3.0
7.0
34
128
B02AA02
ATC
tranexamic acid; systemic
2.8
6.9
38
153
UJF32
NOMESCO Finland
Coloscopy
2.5
6.8
50
232
M41.2
ICD-10 Finland
Other idiopathic scoliosis
17.4
6.8
10
6
NA7BG
NOMESCO Finland
Spine and spinal cord MRI examination with high intensity magnet
17.4
6.8
10
6
N04BC05
ATC
pramipexole; oral
4.1
6.7
19
50
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
12.8
6.7
11
9
TPH20
NOMESCO Finland
Insertion of central venous catheter through subclavian or brachiocephalic vein
9.1
6.6
13
15
R03AC13
ATC
formoterol; inhalant
6.5
6.6
16
26
N05CF02
ATC
zolpidem; oral
2.6
6.4
40
172
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.6
6.3
42
186
J45.8
ICD-10 Finland
Mixed asthma
6.6
6.3
15
24
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
6.3
6
*
NAK30
NOMESCO Finland
Osteotomy of spine
+∞
6.3
6
*
Q76.78
ICD-10 Finland
Other specified congenital malformation of sternum
+∞
6.3
6
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
27.5
6.3
8
*
R20.2
ICD-10 Finland
Paraesthesia of skin
3.4
6.2
23
73
WX892
NOMESCO Finland
Monitored bed care
3.4
6.2
23
73
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
4.3
6.2
16
39
TNX50
NOMESCO Finland
Removal of cutom molded cast and internal stretch
3.8
6.2
19
53
FM1DE
NOMESCO Finland
Doppler ultrasound examination of heart
3.4
6.1
23
74
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
7.6
6.0
13
18

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
46
209
2.52
6.56
3.2
2.4
—
—
—
0
0
32
121
2.92
6.49
10.9
14.0
96.96
95.48
%
0.89
32
115
34
137
2.75
6.14
10.5
12.6
5.47
5.29
kpa
0.56
34
131
34
137
2.75
6.14
10.5
12.6
15.18
13.79
kpa
0.43
34
131
84
519
2.00
5.56
3.1
2.4
—
—
—
0
0
20
66
3.23
5.09
13.5
18.3
—
—
—
0
0
40
192
2.32
5.01
15.5
10.7
—
—
—
0
0
38
185
2.27
4.60
2.7
2.6
20.33
23.51
%
0.63
32
161
64
381
1.96
4.59
4.8
3.5
—
—
—
0
0
35
169
2.27
4.31
15.8
8.5
105.03
104.37
mmol/l
0.45
35
169
128
961
1.79
4.29
9.5
7.4
0.04
0.04
e9/l
0.06
123
840
128
963
1.79
4.24
9.5
7.4
0.57
0.55
e9/l
0.39
123
841
131
995
1.78
4.18
9.8
7.7
0.18
0.20
e9/l
1.23
122
887
43
229
2.09
4.16
1.6
1.5
148837639.72
474.53
pmol/l
0.49
43
199
85
570
1.80
4.15
7.3
9.4
0.99
1.17
inr
5.22
20
171
27
118
2.47
4.14
1.7
4.3
69.56
65.21
e9/l
0.26
21
89
59
357
1.89
3.97
3.9
2.8
1.63
0.83
mg/l
0.65
46
267
122
920
1.73
3.88
9.0
7.8
—
—
—
0
0
105
761
1.73
3.84
15.1
9.4
1.21
1.22
mmol/l
0.63
100
662
56
337
1.89
3.82
5.7
4.2
—
—
—
0
0
19
74
2.72
3.66
13.8
9.9
—
—
—
0
0
128
1002
1.66
3.35
9.6
7.3
1.94
2.05
e9/l
0.86
123
906
54
340
1.78
3.15
4.8
3.0
517.45
562.91
mosm/kgh2o
0.76
47
288
36
199
1.97
3.13
1.5
1.6
1166.40
1148.43
nmol/l
0.04
30
152
148
1216
1.66
3.09
9.1
6.7
86.42
89.12
u/l
0.23
140
1135
73
503
1.68
3.08
2.9
2.9
2.35
2.37
mmol/l
0.34
65
455
23
108
2.26
3.03
1.4
2.0
8.06
9.17
u/l
0.16
18
83
37
602
0.54
3.02
2.0
2.4
—
—
—
0
0
12
37
3.37
2.98
1.3
4.3
—
—
—
0
0
18
76
2.49
2.98
15.1
12.8
26.13
25.42
mmol/l
0.28
18
71
38
218
1.90
2.97
14.6
8.4
1.95
1.54
mmol/l
0.49
33
171
108
831
1.59
2.88
5.5
4.9
0.00
0.00
estimate
-0.00
18
164
30
161
2.00
2.84
16.3
8.5
24.38
23.57
mmol/l
1.09
30
161
133
1078
1.59
2.82
10.6
10.3
4.08
3.91
e9/l
0.36
127
943
9
23
4.03
2.80
1.3
1.1
—
—
—
0
0
108
840
1.56
2.70
4.1
3.5
0.00
0.00
estimate
-0.00
18
158
92
690
1.57
2.69
3.9
3.2
5.75
5.95
ph
—
6
65
54
356
1.68
2.65
4.8
2.8
6.70
5.29
e6/l
0.30
48
313
34
196
1.87
2.62
3.0
1.5
—
—
—
0
0
107
835
1.55
2.61
4.2
3.5
0.00
0.00
estimate
-0.00
19
170
10
32
3.22
2.47
2.2
6.1
—
—
—
0
0
27
148
1.94
2.42
13.4
7.0
—
—
—
0
0
143
1201
1.54
2.42
6.2
4.1
—
—
—
0
0
13
52
2.59
2.40
3.4
2.3
—
—
—
0
0
13
53
2.54
2.32
17.6
13.8
2.07
1.57
%
0.85
13
48
60
420
1.59
2.31
3.4
2.7
3.28
2.79
mg/l
0.83
52
366
39
244
1.73
2.31
3.9
3.2
1585.68
370.94
ng/l
0.91
25
141
21
107
2.06
2.29
5.3
3.7
—
—
—
0
0
65
467
1.56
2.23
7.0
3.4
—
—
—
0
0
5
9
5.65
2.22
3.2
2.3
406.60
1151.00
u/ml
—
5
9
67
486
1.54
2.20
4.3
2.5
—
—
—
0
0
61
435
1.56
2.16
4.6
3.6
0.00
0.01
estimate
0.50
16
162
80
606
1.50
2.14
7.4
4.3
44.11
37.64
e6/l
0.13
59
423
8
25
3.28
2.11
1.4
4.2
47.42
36.58
%
—
8
25
64
467
1.52
2.03
7.0
3.5
0.47
0.22
e6/l
0.28
53
356
69
512
1.51
2.03
2.2
1.8
90.68
94.23
pmol/l
0.25
42
256
204
1900
2.01
1.99
17.2
9.9
—
—
—
0
0
97
773
1.46
1.99
5.4
6.8
11.00
10.64
umol/l
0.09
92
727
117
968
1.45
1.96
10.9
6.0
6.42
6.43
mmol/l
0.01
111
869
5
11
4.62
1.95
1.0
1.0
880.40
1518.82
miu/ml
—
5
11
47
324
1.57
1.91
2.6
2.8
145.74
109.79
ug/g
0.20
32
242
8
29
2.82
1.81
2.5
6.0
—
—
—
0
0
11
47
2.41
1.81
1.4
3.6
198.09
362.14
e6/l
0.33
11
37
11
47
2.41
1.81
1.2
3.5
1.18
3.17
e6/l
1.30
11
36
22
125
1.84
1.80
7.3
6.4
47.91
61.24
ng/l
0.92
22
117
185
1692
1.59
1.73
21.0
14.6
14.70
14.00
%
0.91
185
1670
40
272
1.58
1.73
5.8
3.4
3.13
2.65
e6/l
0.17
27
163
5
13
3.91
1.72
2.8
2.3
36480.00
33585.00
ug/l
—
5
13
8
32
2.56
1.61
46.4
12.0
—
—
—
0
0
42
294
1.53
1.60
1.2
1.2
5.25
6.76
u/ml
0.12
21
106
28
178
1.66
1.58
1.6
1.5
—
—
—
0
0
0
43
0.00
1.54
0.0
1.1
—
2.57
—
0
6
11
51
2.22
1.53
8.4
4.8
—
—
—
0
0
22
132
1.74
1.53
2.2
2.3
—
16.09
—
0
8
64
493
1.42
1.51
7.9
8.0
—
—
—
0
0
145
1280
1.39
1.50
4.6
4.3
8.37
9.11
mm/h
0.47
139
1185
106
891
1.37
1.49
10.1
9.6
0.00
0.00
e9/l
0.50
95
710
6
138
0.42
1.46
1.5
1.4
—
—
—
0
0
59
451
1.42
1.45
4.5
3.6
7.43
8.39
mmol/l
0.82
54
408
53
398
1.44
1.43
4.5
3.2
1.02
1.02
kg/l
—
8
62
9
40
2.30
1.42
23.6
16.5
1.09
1.22
mmol/l
—
9
35
65
510
1.39
1.37
7.0
3.7
24.49
39.71
e6/l
0.59
54
397
10
47
2.18
1.36
1.2
1.3
—
—
—
0
0
0
40
0.00
1.34
0.0
1.2
—
—
—
0
0
116
1001
1.34
1.32
3.4
3.0
—
—
—
0
0
6
24
2.54
1.31
3.5
1.9
—
—
—
0
0
25
163
1.60
1.30
1.5
1.4
—
—
—
0
0
60
469
1.38
1.29
4.2
3.3
22.89
31.36
ng/l
0.33
36
246
14
77
1.87
1.28
4.6
1.9
—
—
—
0
0
41
303
1.43
1.21
1.3
1.3
37.70
31.46
iu/ml
0.13
11
82
194
1827
1.52
1.20
19.9
11.7
22.80
20.90
mg/l
0.37
165
1340
13
72
1.86
1.18
30.5
6.9
0.78
0.69
%
0.35
13
72
13
72
1.86
1.18
2.2
1.6
—
—
—
0
0
16
96
1.72
1.13
2.5
2.0
—
—
—
0
0
8
40
2.04
1.13
2.6
1.8
—
—
—
0
0
34
249
1.43
1.06
1.5
1.6
400.00
530.00
titre
—
8
52
53
420
1.35
1.04
5.3
3.8
7.40
7.40
ph
—
5
75
7
34
2.09
1.04
6.1
4.1
3.50
3.85
e9/l
—
7
34
7
34
2.09
1.04
6.1
4.3
61.29
54.32
%
—
7
34
9
48
1.91
1.02
7.1
7.3
—
—
—
0
0
0
29
0.00
0.98
0.0
5.9
—
—
—
0
0
18
117
1.59
0.97
3.9
4.5
—
—
—
0
0
44
347
1.34
0.90
4.4
3.4
—
—
—
0
0
15
95
1.62
0.90
1.9
2.6
66.21
66.29
g/l
0.01
15
90
10
56
1.82
0.89
2.2
1.6
—
—
—
0
0
8
43
1.89
0.88
1.3
1.3
—
—
—
0
0
42
334
1.32
0.81
3.8
3.9
5.16
60.35
mg/mmol
0.60
29
231
23
166
1.43
0.79
1.3
1.3
36.80
149.89
iu/ml
—
6
66
14
91
1.58
0.77
30.6
7.9
131.21
131.07
g/l
0.01
14
91
193
1854
1.33
0.68
11.9
9.4
24.96
26.04
u/l
0.43
193
1783
5
29
1.74
0.64
1.2
1.7
283.60
287.06
mosm/kgh2o
—
5
18
9
138
0.64
0.63
1.6
1.7
—
—
—
0
0
0
21
0.00
0.60
0.0
1.3
—
—
—
0
0
63
548
1.21
0.59
1.7
1.6
1.69
1.98
g/l
1.24
43
302
20
151
1.36
0.56
2.4
2.6
7259.46
3522.85
u/l
0.22
13
64
164
1560
1.20
0.54
3.9
4.0
2.68
2.81
mmol/l
1.23
159
1458
6
39
1.55
0.53
1.5
1.2
—
—
—
0
0
24
189
1.30
0.52
1.5
1.2
—
—
—
0
0
10
67
1.52
0.50
3.1
2.7
—
—
—
0
0
38
319
1.23
0.50
3.9
3.4
32.27
258.91
mg/l
0.69
28
229
15
113
1.35
0.44
2.2
1.9
—
—
—
0
0
156
1489
1.16
0.44
3.4
3.4
1.24
1.25
mmol/l
0.08
151
1386
210
2061
1.42
0.43
27.9
17.2
40.22
40.18
%
0.04
194
1970
210
2061
1.42
0.43
27.1
17.0
262.14
260.40
e9/l
0.14
210
2010
161
1541
1.17
0.43
3.6
3.7
1.44
1.47
mmol/l
0.46
155
1438
14
105
1.36
0.42
1.2
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
2.82
—
0
16
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
210
2063
1.39
0.40
26.9
16.9
89.37
89.19
fl
0.19
210
2034
210
2063
1.39
0.40
26.9
16.9
29.84
29.84
pg
0.00
210
2033
10
71
1.43
0.40
2.0
1.2
—
—
—
0
0
0
19
0.00
0.39
0.0
4.1
—
55.97
—
0
19
210
2064
1.38
0.39
27.0
17.0
4.54
4.55
e12/l
0.11
210
2006
210
2065
1.37
0.37
27.2
17.2
134.44
135.24
g/l
0.37
210
2037
9
70
1.30
0.37
1.1
1.2
—
—
—
0
0
34
293
1.19
0.36
1.3
1.6
—
—
—
0
0
157
1510
1.14
0.35
4.0
3.5
5.65
5.70
mmol/l
0.13
152
1387
210
2067
1.35
0.34
27.1
17.0
6.71
6.70
e9/l
0.02
210
2007
174
1686
1.15
0.34
21.9
14.8
333.68
334.02
g/l
0.19
174
1672
17
207
0.81
0.31
1.1
1.3
—
—
—
0
0
7
100
0.69
0.31
1.3
1.7
—
—
—
0
0
14
174
0.79
0.31
1.8
1.4
—
—
—
0
0
20
167
1.22
0.29
1.5
1.2
—
—
—
0
0
10
76
1.33
0.28
1.5
3.7
0.18
0.12
e6/l
—
10
76
8
67
1.20
0.26
1.4
1.8
—
—
—
0
0
5
72
0.69
0.26
1.8
2.0
257.60
167.16
u/ml
—
5
38
66
614
1.11
0.25
1.4
1.6
0.54
1.72
u/ml
1.81
16
138
6
82
0.72
0.24
1.0
1.1
—
—
—
0
0
14
115
1.23
0.24
1.3
1.2
—
—
—
0
0
27
238
1.15
0.23
1.2
1.2
—
—
—
0
0
5
41
1.22
0.22
1.6
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
1.41
—
0
11
0
10
0.00
0.21
0.0
2.9
—
648.00
—
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
6
48
1.26
0.20
2.2
1.6
0.26
0.30
nmol/l
—
6
39
0
14
0.00
0.20
0.0
1.9
—
1.07
—
0
14
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
13
154
0.83
0.19
3.4
3.5
—
—
—
0
0
33
361
0.90
0.18
1.5
1.7
—
—
—
0
0
61
579
1.07
0.15
1.8
2.1
—
—
—
0
0
17
150
1.14
0.15
4.1
1.6
—
—
—
0
0
16
141
1.15
0.14
4.3
1.6
—
—
—
0
0
14
122
1.16
0.14
4.7
1.6
—
—
—
0
0
17
152
1.13
0.12
4.1
1.6
—
—
—
0
0
50
475
1.07
0.12
1.6
1.8
—
—
—
0
0
17
153
1.12
0.11
4.1
1.6
—
—
—
0
0
10
86
1.17
0.11
4.8
6.4
0.19
0.33
g/l
—
5
52
5
46
1.09
0.09
1.2
1.2
—
—
—
0
0
5
46
1.09
0.09
1.2
1.2
—
—
—
0
0
5
65
0.76
0.08
3.0
2.2
—
—
—
0
0
10
112
0.89
0.07
1.0
1.1
—
—
—
0
0
16
173
0.92
0.07
1.7
1.5
—
—
—
0
0
11
99
1.12
0.06
1.0
1.2
—
—
—
0
0
9
101
0.89
0.06
1.4
1.5
—
—
—
0
0
36
375
0.95
0.06
1.6
1.7
—
—
—
0
0
11
100
1.11
0.05
1.4
1.2
—
—
—
0
0
14
150
0.93
0.04
4.7
1.6
—
—
—
0
0
62
608
1.03
0.03
2.2
1.9
—
—
—
0
0
11
116
0.95
0.01
1.9
1.6
—
—
—
0
0
22
214
1.03
0.00
2.2
1.9
—
—
—
0
0
59
594
0.99
0.00
1.6
1.7
—
—
—
0
0
48
482
0.99
0.00
2.6
3.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
1770.71
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
6
69
0.87
-0.00
1.5
1.7
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
8.13
—
0
7
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.9
—
0.80
—
0
7
0
8
0.00
-0.00
0.0
4.3
—
48.25
—
0
8
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
4.79
—
0
6
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
5
50
1.00
-0.00
1.2
1.6
0.89
0.56
nmol/l
—
5
43
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.4
—
129.20
—
0
5
0
8
0.00
-0.00
0.0
3.0
—
1.17
—
0
8
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
156.07
—
0
9
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
55
0.91
-0.00
1.4
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
7.63
—
0
9
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
9
97
0.92
-0.00
1.4
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
9
97
0.92
-0.00
1.4
1.5
—
—
—
0
0
6
66
0.91
-0.00
1.7
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
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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