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

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 Q76
  • Cause of death: ICD-10 Q76

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

233

4. Check minimum number of events

None

233

5. Include endpoints

None

233

6. Filter based on genotype QC (FinnGen only)

212

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 212 135 77
Unadjusted period prevalence (%) 0.04 0.05 0.04
Median age at first event (years) 27.05 31.16 19.83

-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
222
Matched controls
2220
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
NA7EA
NOMESCO Finland
Scoliosis X-ray examination
38.4
82.2
53
18
Q76.30
ICD-10 Finland
Hemivertebra fusion or failure of segmentation with scoliosis
+∞
63.7
58
*
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
+∞
33.2
31
*
Q76.1
ICD-10 Finland
Klippel-Feil syndrome
+∞
29.9
28
*
Q76.9
ICD-10 Finland
Congenital malformation of bony thorax, unspecified
+∞
26.6
25
*
N03AX12
ATC
[U] gabapentin; oral
4.8
21.2
59
157
Q76.3
ICD-10 Finland
Congenital scoliosis due to congenital bony malformation
+∞
19.0
18
*
Z31.5
ICD-10 Finland
Genetic counselling
5.2
18.2
42
95
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
5.5
18.1
39
83
N06AX21
ATC
duloxetine; oral
4.5
17.1
49
132
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
19.9
16.9
25
14
Q79.6
ICD-10 Finland
Ehlers-Danlos syndrome
+∞
16.9
16
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.1
16.7
39
89
WX408
NOMESCO Finland
General anesthesy, balanced
3.3
16.0
89
375
NA1AD
NOMESCO Finland
Cervical spine CT examination
7.9
16.0
23
32
ZXE20
NOMESCO Finland
More than three and less than five hours
4.2
15.5
48
137
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.9
15.1
54
171
TPH07
NOMESCO Finland
Cathetrisation of artery
4.6
14.8
39
98
N02BF01
ATC
gabapentin; oral
4.5
14.7
40
103
NA3AA
NOMESCO Finland
Lumbar spine X-ray examination without contrast
5.0
14.6
34
77
KH1AE
NOMESCO Finland
Urinary tract ultrasound examination
5.7
14.0
28
55
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
5.5
14.0
29
59
NA1AA
NOMESCO Finland
Cervical spine X-ray examination without contrast
11.6
13.6
25
24
N02AX02
ATC
tramadol; systemic, rectal
2.9
13.6
101
493
UKC02
NOMESCO Finland
Cystoscopy
4.3
13.5
39
105
Z3226
NOMESCO Finland
Physiotherapist
3.2
13.1
69
277
NAG53
NOMESCO Finland
Posterior or lateral fusion of thoracic spine with fixation, more than 3 vertebraea
74.2
12.7
14
*
Q76.68
ICD-10 Finland
Other congenital malformations of ribs
+∞
12.6
12
*
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
4.0
12.5
40
116
ZXD10
NOMESCO Finland
Scheduled procedure
2.8
12.3
103
530
M41.9
ICD-10 Finland
Scoliosis, unspecified
15.8
12.0
19
13
ZXE30
NOMESCO Finland
More than five and less than seven hours
5.4
12.0
25
51
NA2AA
NOMESCO Finland
Thoracal spine X-ray examination without contrast
13.6
11.9
20
16
Q76.0
ICD-10 Finland
Spina bifida occulta
+∞
11.6
11
*
N03AX16
ATC
[U] pregabalin
3.1
11.5
58
226
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.3
11.0
47
165
R4120
NOMESCO Finland
Occupational therapy
4.4
10.7
29
74
N03AE01
ATC
clonazepam; systemic
5.3
10.5
22
45
M41.5
ICD-10 Finland
Other secondary scoliosis
+∞
10.5
10
*
Q87.26
ICD-10 Finland
VATER association
+∞
10.5
10
*
L82
ICPC
Congenital anomaly musculoskeletal
+∞
10.5
10
*
R4110
NOMESCO Finland
Physiotherapy
2.6
10.1
81
400
M54.2
ICD-10 Finland
Cervicalgia
3.9
10.1
32
92
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.5
9.9
104
582
N06AA09
ATC
amitriptyline; systemic
4.3
9.9
27
69
ZXE10
NOMESCO Finland
More than one and less than three hours
2.5
9.8
91
482
TPH04
NOMESCO Finland
Cathetrisation of vein
2.8
9.2
58
252
WX882
NOMESCO Finland
High dependency care
4.5
9.2
23
55
NA1EA
NOMESCO Finland
Cervical spine X-ray examination with flexion
13.3
9.0
15
12
M35.7
ICD-10 Finland
Hypermobility syndrome
13.3
9.0
15
12
J45.9
ICD-10 Finland
Asthma, unspecified
2.7
8.7
55
239
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
2.8
8.5
49
203
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.7
8.5
57
256
M51.3
ICD-10 Finland
Other specified intervertebral disc degeneration
4.2
8.4
23
59
Q76.42
ICD-10 Finland
Congenital anomalies of sacral vetebrae
+∞
8.4
8
*
Q76.2
ICD-10 Finland
Congenital spondylolisthesis
+∞
8.4
8
*
ZXA05
NOMESCO Finland
Left side
2.7
8.3
53
231
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.5
8.3
30
94
M54.6
ICD-10 Finland
Pain in thoracic spine
3.6
8.3
29
89
Z01.8
ICD-10 Finland
Other specified special examinations
2.5
8.1
64
310
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.5
8.0
62
297
TPH15
NOMESCO Finland
Insertion of central venous catheter through external or internal jugular vein
3.8
8.0
25
71
UGC12
NOMESCO Finland
Flexible bronchoscopy
4.5
7.9
20
48
Q76.5
ICD-10 Finland
Cervical rib
46.6
7.8
9
*
Z3229
NOMESCO Finland
Other healthcare associate professional
3.2
7.7
33
115
N03AX09
ATC
lamotrigine; oral
4.0
7.7
23
63
A03FA02
ATC
cisapride; oral, rectal
4.5
7.6
19
45
H90.0
ICD-10 Finland
Conductive hearing loss, bilateral
26.0
7.6
10
*
UJF32
NOMESCO Finland
Coloscopy
2.6
7.5
53
242
KC1EE
NOMESCO Finland
Ultrasound measurement of residual urine
3.6
7.5
26
79
WX892
NOMESCO Finland
Monitored bed care
3.7
7.5
25
74
ZXD05
NOMESCO Finland
Urgent procedure
2.3
7.5
81
449
M79.0
ICD-10 Finland
Rheumatism, unspecified
7.3
7.5
17
25
ZX120
NOMESCO Finland
Intravenous
3.3
7.4
30
101
Q76.40
ICD-10 Finland
Congenital absence of vertebrae without scoliosis
+∞
7.3
7
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
3.4
7.3
28
91
M41.2
ICD-10 Finland
Other idiopathic scoliosis
16.4
7.3
11
7
Q25.0
ICD-10 Finland
Patent ductus arteriosus
16.4
7.3
11
7
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.7
7.2
44
187
M41.8
ICD-10 Finland
Other forms of scoliosis
20.8
7.2
10
5
XKC03
NOMESCO Finland
Water cystometry
7.4
7.1
16
23
J45.1
ICD-10 Finland
Nonallergic asthma
3.1
7.1
31
109
M54.5
ICD-10 Finland
Low back pain
2.2
7.1
91
537
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.7
7.1
44
188
B02AA02
ATC
tranexamic acid; systemic
2.8
7.1
40
163
WX725
NOMESCO Finland
Noninvasive ventilation
4.6
7.1
17
39
A28
ICPC
Limited function/disability NOS
2.9
7.0
35
133
N04BC05
ATC
pramipexole; oral
4.0
7.0
20
53
N06AX16
ATC
venlafaxine; oral
2.7
6.9
43
184
NA7BG
NOMESCO Finland
Spine and spinal cord MRI examination with high intensity magnet
17.4
6.8
10
6
NAG63
NOMESCO Finland
Posterior fusion of lumbar spine with fixation, more than 3 vertebraea
41.4
6.8
8
*
G44.2
ICD-10 Finland
Tension-type headache
2.7
6.8
41
173
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
M01AH01
ATC
celecoxib; oral
2.8
6.5
34
133
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
2.3
6.4
61
318
NAT20
NOMESCO Finland
Reinsertion and tuning of internal fixation device
+∞
6.3
6
*
Q76.78
ICD-10 Finland
Other specified congenital malformation of sternum
+∞
6.3
6
*
Q66.0
ICD-10 Finland
Talipes equinovarus
+∞
6.3
6
*
NAK30
NOMESCO Finland
Osteotomy of spine
+∞
6.3
6
*
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
27.5
6.3
8
*
UDQ12
NOMESCO Finland
Flexible laryngoscopy
4.3
6.2
16
39
NA3AD
NOMESCO Finland
Lumbar spine and sacrum CT examination
9.0
6.1
12
14
WX402
NOMESCO Finland
General anaesthesia
2.2
6.1
62
331
Z3231
NOMESCO Finland
Registered nurse
2.1
6.1
80
472
ZXA00
NOMESCO Finland
Right side
2.3
6.1
51
251
N06CA01
ATC
amitriptyline and psycholeptics; systemic
3.2
6.0
24
80
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.2
6.0
16
40
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
4.2
6.0
16
40

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
82
464
2.22
7.14
2.7
2.3
145.33
161.32
u/l
0.21
82
443
37
155
2.66
6.20
10.8
13.6
7.41
7.42
ph
0.32
17
93
37
156
2.65
6.12
10.9
13.4
14.98
13.61
kpa
0.49
37
150
37
156
2.65
6.12
10.9
13.4
5.43
5.29
kpa
0.48
37
150
49
238
2.36
6.01
3.4
2.4
—
—
—
0
0
34
139
2.71
5.97
11.3
14.8
96.89
95.38
%
0.94
34
134
90
590
1.88
4.86
3.2
2.5
—
—
—
0
0
67
398
1.98
4.85
4.2
2.8
1.65
0.98
mg/l
0.56
53
303
31
138
2.45
4.57
1.8
4.5
68.07
64.20
e9/l
0.25
23
99
43
222
2.16
4.51
19.0
11.3
—
—
—
0
0
65
393
1.92
4.43
5.9
4.2
—
—
—
0
0
48
262
2.06
4.36
1.8
1.6
133333774.71
51092169.73
pmol/l
0.25
48
229
37
185
2.20
4.19
13.3
7.5
7.41
7.41
ph
0.03
32
155
117
859
1.77
4.18
17.2
9.8
1.21
1.22
mmol/l
0.52
110
761
77
500
1.83
4.17
3.2
2.8
2.98
2.60
mg/l
0.70
69
441
41
215
2.11
4.12
18.9
9.4
105.73
104.48
mmol/l
1.33
41
215
46
254
2.02
4.03
16.9
8.6
7.36
7.38
ph
1.24
34
168
92
643
1.74
3.82
7.8
9.9
1.14
1.15
inr
0.09
80
536
135
1053
1.72
3.72
11.5
6.6
6.48
6.38
mmol/l
0.17
128
961
137
1076
1.71
3.65
10.4
8.1
0.04
0.04
e9/l
0.30
129
930
137
1076
1.71
3.65
10.3
8.1
0.57
0.55
e9/l
0.57
129
930
19
75
2.68
3.57
13.8
9.8
—
—
—
0
0
12
33
3.78
3.34
2.3
6.8
—
—
—
0
0
20
84
2.52
3.34
14.6
12.0
25.79
25.54
mmol/l
0.09
20
79
26
124
2.24
3.30
1.7
2.1
7.77
8.89
u/l
0.18
20
90
139
1114
1.66
3.27
10.7
8.4
0.17
0.20
e9/l
1.92
128
985
76
524
1.68
3.21
4.7
2.6
—
—
—
0
0
35
190
2.00
3.20
19.6
8.5
24.33
23.78
mmol/l
0.82
35
190
81
571
1.66
3.14
3.1
2.9
2.35
2.36
mmol/l
0.28
76
524
57
365
1.76
3.13
4.8
3.1
516.42
548.32
mosm/kgh2o
0.50
51
316
99
736
1.62
3.10
9.1
8.3
—
—
—
0
0
110
843
1.60
3.01
3.6
3.0
—
—
estimate
—
0
0
137
1108
1.62
2.99
10.5
8.1
1.94
2.06
e9/l
0.85
129
993
36
203
1.92
2.96
1.5
1.6
1166.40
1143.79
nmol/l
0.05
30
156
14
52
2.81
2.95
3.7
2.4
0.86
3.21
index
—
7
28
108
829
1.59
2.91
4.5
3.3
6.28
6.26
ph
0.08
51
444
95
710
1.59
2.85
8.4
4.7
40.36
41.75
e6/l
0.02
65
478
37
214
1.87
2.82
3.1
1.7
—
—
—
0
0
63
427
1.66
2.80
2.0
1.5
19.39
21.22
nmol/l
0.36
58
373
60
404
1.66
2.72
5.1
3.0
6.34
6.14
e6/l
0.04
53
359
142
1173
1.58
2.71
11.2
11.3
4.16
3.90
e9/l
0.62
133
1017
50
727
0.60
2.63
2.1
2.7
—
—
—
0
0
9
25
3.71
2.60
1.3
1.1
—
—
—
0
0
12
42
2.96
2.59
1.3
4.3
—
—
—
0
0
126
1020
1.54
2.58
5.0
3.8
0.00
0.00
estimate
-0.00
23
194
155
1316
1.59
2.55
10.1
7.5
86.37
88.32
u/l
0.17
150
1240
45
285
1.73
2.55
4.1
3.3
1482.48
426.08
ng/l
0.82
27
166
28
153
1.95
2.52
15.1
7.0
—
—
—
0
0
125
1015
1.53
2.49
5.1
3.7
0.00
0.00
estimate
-0.00
23
201
124
1008
1.52
2.44
5.1
3.7
0.00
0.00
estimate
-0.00
22
203
9
27
3.43
2.42
1.3
1.3
—
—
—
0
0
88
667
1.53
2.39
2.4
1.9
95.75
94.32
pmol/l
0.11
55
338
9
28
3.31
2.33
1.3
5.0
46.38
38.56
%
—
9
28
72
525
1.55
2.32
7.5
3.7
0.46
0.23
e6/l
0.26
54
376
72
527
1.54
2.28
4.7
3.7
0.00
0.01
estimate
0.50
20
194
66
474
1.56
2.27
4.6
3.3
1.02
1.02
kg/l
0.52
41
313
80
601
1.52
2.24
7.5
3.9
25.63
35.70
e6/l
0.41
62
455
26
145
1.90
2.22
6.7
6.4
49.67
62.71
ng/l
1.02
26
135
67
486
1.54
2.20
5.4
4.0
7.38
7.40
ph
1.29
40
350
21
109
2.02
2.19
5.3
3.6
—
—
—
0
0
95
744
1.48
2.16
4.3
3.4
0.00
0.01
estimate
0.50
19
172
47
315
1.62
2.15
6.6
3.6
3.13
2.61
e6/l
0.19
27
166
10
37
2.78
2.10
3.5
5.6
91.46
93.09
%
—
10
37
15
69
2.26
2.10
17.3
11.3
1.93
1.54
%
0.75
15
64
5
10
5.09
2.08
4.0
2.5
406.60
1138.10
u/ml
—
5
10
5
10
5.09
2.08
3.0
1.4
4.70
6.21
u/l
—
5
10
33
208
1.69
1.91
1.6
1.6
—
—
—
0
0
13
61
2.20
1.75
18.2
12.5
0.83
0.89
%
0.18
13
56
5
13
3.91
1.72
1.0
1.0
880.40
1606.62
miu/ml
—
5
13
79
624
1.41
1.63
8.2
7.3
—
—
—
0
0
14
71
2.04
1.57
1.1
1.5
—
—
—
0
0
13
64
2.10
1.57
9.2
5.0
36.88
36.95
°c
0.21
13
64
16
89
1.86
1.41
34.2
7.3
0.73
0.64
%
0.38
16
89
11
53
2.13
1.41
1.2
3.6
1.18
16.29
e6/l
0.59
11
38
114
975
1.35
1.40
12.3
11.4
0.00
0.00
e9/l
0.41
97
777
9
41
2.24
1.38
23.6
16.3
1.09
1.23
mmol/l
—
9
36
49
366
1.43
1.36
2.9
3.0
125.57
105.49
ug/g
0.12
33
277
10
47
2.18
1.36
51.1
10.9
71.25
67.03
%
—
10
47
11
54
2.09
1.35
1.4
3.6
198.09
343.74
e6/l
0.29
11
39
206
1955
1.75
1.34
23.7
15.1
65.00
69.23
umol/l
2.79
206
1930
58
450
1.39
1.30
4.2
3.3
—
—
—
0
0
11
55
2.05
1.29
1.2
1.3
—
—
—
0
0
46
344
1.43
1.27
1.3
1.3
5.24
6.41
u/ml
0.10
21
121
49
371
1.41
1.27
1.4
1.3
35.06
30.82
iu/ml
0.09
12
91
207
1975
1.71
1.20
18.9
11.0
—
—
—
0
0
11
59
1.91
1.09
2.1
1.6
14.44
20.41
ng/l
2.24
11
59
27
188
1.50
1.08
1.6
1.5
—
—
—
0
0
16
98
1.68
1.06
5.0
1.9
—
—
—
0
0
39
293
1.40
1.06
1.5
1.6
400.00
580.67
titre
—
8
60
7
34
2.09
1.04
6.1
4.1
3.50
3.85
e9/l
—
7
34
9
49
1.87
1.00
7.1
8.2
—
—
—
0
0
20
133
1.55
0.98
2.1
1.9
—
—
—
0
0
22
150
1.52
0.97
2.6
1.8
6.04
6.08
ph
0.08
14
96
0
32
0.00
0.96
0.0
6.6
—
7.89
—
0
32
26
187
1.44
0.90
1.3
1.3
36.80
144.28
u/ml
—
6
73
80
690
1.25
0.82
1.3
1.7
0.52
1.80
u/ml
2.13
21
161
68
577
1.26
0.80
5.0
3.8
7.02
8.60
mmol/l
2.11
61
517
8
48
1.69
0.79
1.3
1.2
—
—
—
0
0
63
534
1.25
0.75
4.7
3.4
24.13
29.25
ng/l
0.21
39
292
10
60
1.70
0.73
2.3
1.6
0.20
0.30
nmol/l
—
10
49
72
622
1.23
0.72
1.7
1.6
1.78
2.02
g/l
0.99
49
352
18
127
1.45
0.70
4.3
4.4
7.37
7.33
ph
0.49
18
91
178
1690
1.27
0.69
4.6
4.8
2.63
2.77
mmol/l
1.44
173
1600
76
664
1.22
0.68
2.2
1.9
—
—
—
0
0
5
93
0.53
0.68
1.0
1.2
0.76
0.93
g/l
—
5
93
199
1924
1.33
0.60
23.7
13.5
22.64
21.32
mg/l
0.26
170
1501
5
87
0.57
0.57
1.0
1.1
—
0.67
—
0
10
6
36
1.68
0.57
1.3
1.6
281.00
286.77
mosm/kgh2o
—
6
22
5
90
0.55
0.57
1.0
1.1
1.66
1.56
g/l
—
5
90
50
428
1.22
0.55
4.3
4.1
4.64
48.16
mg/mmol
0.60
35
293
16
214
0.73
0.54
1.9
1.4
—
—
—
0
0
22
171
1.32
0.52
2.3
1.9
0.00
0.00
estimate
—
5
46
175
1676
1.21
0.51
4.1
4.4
1.45
1.47
mmol/l
0.24
168
1577
27
218
1.27
0.49
1.6
1.2
—
—
—
0
0
49
424
1.20
0.49
4.1
3.5
28.12
67.16
mg/l
1.59
35
300
55
483
1.18
0.47
6.5
5.2
—
—
—
0
0
165
1578
1.18
0.46
3.6
3.8
1.22
1.23
mmol/l
0.14
160
1478
181
1745
1.20
0.45
26.0
17.2
333.45
333.90
g/l
0.27
181
1735
24
195
1.26
0.42
1.5
1.2
—
—
—
0
0
5
32
1.58
0.42
1.8
1.9
—
—
—
0
0
5
32
1.58
0.42
1.8
1.9
—
—
—
0
0
5
32
1.58
0.42
1.8
1.9
—
—
—
0
0
5
32
1.58
0.42
1.8
1.9
—
—
—
0
0
8
59
1.37
0.41
3.1
2.0
64.97
1.41
ug/l
—
8
54
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
18
0.00
0.40
0.0
1.1
—
21.54
—
0
18
0
19
0.00
0.39
0.0
1.3
—
3.18
—
0
19
5
36
1.40
0.38
2.4
3.2
—
—
—
0
0
15
116
1.31
0.38
1.0
1.2
—
—
—
0
0
10
72
1.41
0.37
1.1
1.2
—
—
—
0
0
32
275
1.19
0.35
1.2
1.2
—
—
—
0
0
6
43
1.41
0.35
81.0
10.7
79.67
67.49
%
—
6
43
70
641
1.13
0.35
1.9
2.2
—
—
—
0
0
169
1634
1.14
0.34
4.6
4.0
5.66
5.68
mmol/l
0.07
164
1509
17
208
0.80
0.33
1.1
1.3
—
—
—
0
0
13
164
0.78
0.32
1.4
1.7
—
—
—
0
0
8
64
1.26
0.28
5.6
2.9
60.99
56.20
%
—
8
64
15
123
1.24
0.26
1.3
1.2
—
—
—
0
0
40
442
0.88
0.25
1.6
1.8
—
—
—
0
0
20
170
1.19
0.25
2.6
2.6
6776.64
4896.78
u/l
0.11
14
70
17
201
0.83
0.25
5.0
1.6
—
—
—
0
0
19
162
1.19
0.23
2.8
2.5
0.50
0.76
ug/l
1.90
13
83
10
79
1.28
0.22
3.6
1.8
—
—
—
0
0
8
103
0.77
0.21
1.3
1.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
149.70
—
0
11
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
2.8
—
0.82
—
0
10
0
10
0.00
0.21
0.0
3.4
—
619.00
—
0
5
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
0.54
—
0
12
10
123
0.80
0.21
1.0
1.1
—
—
—
0
0
10
80
1.26
0.21
1.5
1.9
—
—
—
0
0
9
112
0.80
0.20
1.0
1.1
—
—
—
0
0
42
386
1.11
0.20
2.2
3.9
301.86
323.32
umol/l
0.77
37
349
61
573
1.09
0.19
2.9
3.1
0.00
0.00
estimate
-0.00
20
160
10
81
1.25
0.19
2.0
1.2
—
—
—
0
0
17
147
1.17
0.18
2.2
2.0
—
—
—
0
0
5
67
0.74
0.17
3.0
2.2
—
—
—
0
0
198
1955
1.12
0.16
14.0
11.0
24.91
26.33
u/l
0.68
198
1901
19
212
0.89
0.14
1.6
1.6
—
—
—
0
0
11
94
1.18
0.13
4.7
6.5
198.40
312.45
mg/l
—
5
58
11
127
0.86
0.12
2.1
1.6
0.24
0.27
mg/l
—
5
51
14
157
0.88
0.11
3.3
3.6
—
—
—
0
0
69
666
1.05
0.10
1.6
1.7
—
—
—
0
0
5
62
0.80
0.08
1.4
1.2
—
—
—
0
0
8
75
1.07
0.07
1.5
1.2
—
—
—
0
0
7
83
0.84
0.07
2.4
1.8
—
—
—
0
0
41
427
0.95
0.07
1.8
1.8
—
—
—
0
0
36
345
1.05
0.06
1.4
1.6
—
—
—
0
0
55
535
1.04
0.05
1.7
1.8
—
—
—
0
0
17
163
1.05
0.01
4.9
1.7
—
—
—
0
0
11
104
1.06
0.01
1.4
1.2
—
—
—
0
0
10
106
0.94
0.01
1.5
1.7
—
—
—
0
0
212
2122
0.98
0.00
32.7
20.3
4.53
4.55
e12/l
0.27
212
2081
212
2122
0.98
0.00
34.1
21.0
40.20
40.45
%
0.33
212
2103
212
2122
0.98
0.00
32.5
20.3
29.93
29.90
pg
0.08
212
2103
12
122
0.98
0.00
1.8
1.6
—
—
—
0
0
212
2121
0.99
0.00
32.5
20.3
89.58
89.34
fl
0.29
212
2103
23
226
1.02
0.00
2.2
2.0
—
—
—
0
0
20
201
0.99
0.00
4.3
1.6
—
—
—
0
0
20
199
1.01
0.00
4.4
1.6
—
—
—
0
0
10
103
0.97
0.00
1.4
1.6
—
—
—
0
0
212
2123
0.97
0.00
33.0
20.6
134.62
135.44
g/l
0.38
212
2105
212
2124
0.96
0.00
32.7
20.4
6.73
6.71
e9/l
0.04
212
2079
19
188
1.01
0.00
4.5
1.6
—
—
—
0
0
20
202
0.99
0.00
4.3
1.6
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.9
—
1720.71
—
0
7
5
59
0.84
-0.00
1.4
1.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
-0.00
0.0
4.3
—
48.25
—
0
8
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.0
—
142.50
—
0
8
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
212
2120
1.00
-0.00
32.7
20.4
261.36
261.13
e9/l
0.02
212
2084
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.7
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
54
0.92
-0.00
1.2
1.7
0.89
0.62
nmol/l
—
5
47
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
59
0.84
-0.00
1.4
1.2
—
—
—
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
6
66
0.91
-0.00
1.7
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
4.79
—
0
6

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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