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Other congenital malformations, not elsewhere classified

EFO Endpoint Browser PheWeb

Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED

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 — Q89
  • Cause of death: ICD-10 — Q89

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

304

4. Check minimum number of events

None

304

5. Include endpoints

None

304

6. Filter based on genotype QC (FinnGen only)

304

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q8
Name in latin
Aliae malformationes congenitae non alibi classificatae

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 3086 1558 1514
Only index persons 2386 1228 1158
Unadjusted period prevalence (%)
Whole population 0.04 0.04 0.04
Only index persons 0.04 0.05 0.04
Median age at first event (years)
Whole population 10.81 12.42 8.94
Only index persons 16.53 18.98 13.93

-FinnGen-

Key figures

All Female Male
Number of individuals 304 188 116
Unadjusted period prevalence (%) 0.06 0.06 0.05
Median age at first event (years) 32.31 33.26 30.77

-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
277
Matched controls
2770
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q89.23
ICD-10 Finland
Cyst of the ductus thyreoglossus
+∞
93.1
84
*
Q89.7
ICD-10 Finland
Multiple congenital malformations, not elsewhere classified
+∞
69.8
64
*
ENB50
NOMESCO Finland
Excision of cyst or fistula of thyroglossic duct
633.1
54.5
52
*
Q89.9
ICD-10 Finland
Congenital malformation, unspecified
+∞
31.9
30
*
Q89.34
ICD-10 Finland
Cartagena syndrome (immotile cilia)
+∞
24.3
23
*
Q89.30
ICD-10 Finland
Situs inversus with dextrocardia
+∞
22.2
21
*
Q89.88
ICD-10 Finland
Other specified congenital malformations
+∞
21.1
20
*
Z31.5
ICD-10 Finland
Genetic counselling
6.6
18.3
49
87
WX408
NOMESCO Finland
General anesthesy, balanced
3.3
17.6
119
517
Q87.88
ICD-10 Finland
Other specified congenital malformation syndromes, not elsewhere classified
+∞
16.8
16
*
R2130
NOMESCO Finland
Counselling and guidance which enhance independent living
4.6
15.6
58
151
Q89.22
ICD-10 Finland
Permanent ductus thyreoglossus
+∞
14.7
14
*
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
5.6
14.7
44
90
Q18.8
ICD-10 Finland
Other specified congenital malformations of face and neck
42.3
13.3
16
*
J47
ICD-10 Finland
Bronchiectasis
19.1
12.2
18
10
R4110
NOMESCO Finland
Physiotherapy
2.8
11.8
94
434
Q18.0
ICD-10 Finland
Sinus, fistula and cyst of branchial cleft
31.6
11.8
15
5
R22.1
ICD-10 Finland
Localized swelling, mass and lump, neck
7.6
11.3
26
37
XA800
NOMESCO Finland
Neuropsychological investigation
4.7
10.8
37
88
WX404
NOMESCO Finland
Intravenous generell anesthesy
2.7
10.8
88
408
R62.0
ICD-10 Finland
Delayed milestone
6.5
10.6
27
45
EP1AE
NOMESCO Finland
Neck ultrasound examination
4.9
9.6
31
69
WX402
NOMESCO Finland
General anaesthesia
2.7
9.6
72
315
Q24.0
ICD-10 Finland
Dextrocardia
103.4
9.5
10
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.9
9.3
62
252
TPH07
NOMESCO Finland
Cathetrisation of artery
3.6
9.1
41
126
Q21.08
ICD-10 Finland
Other specifed ventricular septal defect
13.1
9.0
15
12
XF400
NOMESCO Finland
ECG with 12 standard connections
2.8
8.7
62
261
UDC00
NOMESCO Finland
Ear microscopy
3.8
8.6
37
109
F82
ICD-10 Finland
Specific developmental disorder of motor function
8.3
8.5
18
23
J45.9
ICD-10 Finland
Asthma, unspecified
2.7
8.4
61
260
Q89.00
ICD-10 Finland
Asplenia (congenital)
+∞
8.4
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
3.3
8.1
42
144
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
3.5
7.9
36
112
RS220
NOMESCO Finland
NA
9.8
7.9
15
16
Q21.10
ICD-10 Finland
Persistent ostium secundum
9.8
7.9
15
16
R1100
NOMESCO Finland
General evaluation of the need for rehabilitation
6.3
7.8
20
34
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.6
7.8
35
107
NK6MA
NOMESCO Finland
Measurement of bone age from hand and elbow using X-ray
4.8
7.8
25
56
ZXA00
NOMESCO Finland
Right side
2.5
7.8
67
314
FXA00
NOMESCO Finland
Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure
6.1
7.7
20
35
F79.0
ICD-10 Finland
Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour
9.3
7.6
15
17
H65.3
ICD-10 Finland
Chronic mucoid otitis media
3.8
7.6
32
93
RL140
NOMESCO Finland
NA
10.5
7.6
14
14
F83
ICD-10 Finland
Mixed specific developmental disorders
5.9
7.5
20
36
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
2.6
7.5
58
255
Q89.20
ICD-10 Finland
Congenital malformation of pituitary gland
+∞
7.3
7
*
7593A
ICD-9 Finland
Other and unspecified congenital anomalies, Situs inversus
+∞
7.3
7
*
ZXA05
NOMESCO Finland
Left side
2.4
7.3
67
325
R1260
NOMESCO Finland
Evaluation of communicative skills
16.3
7.3
11
7
TPH04
NOMESCO Finland
Cathetrisation of vein
2.5
7.3
62
288
WYA30
NOMESCO Finland
Preparations for expected poor cooperation
3.0
7.2
41
150
UGC02
NOMESCO Finland
Rigid bronchoscopy
20.7
7.2
10
5
J01MA14
ATC
moxifloxacin; systemic
4.0
7.1
27
72
H52.2
ICD-10 Finland
Astigmatism
7.3
7.1
16
23
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.1
7.0
105
632
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.5
7.0
58
265
203
Kela drug reimbursment
Chronic asthma and similar chronic obstructive pulmonary diseases
2.4
6.8
64
313
R03BB04
ATC
tiotropium bromide; inhalant
4.3
6.8
24
60
J45.1
ICD-10 Finland
Nonallergic asthma
3.2
6.7
35
121
KFH00
NOMESCO Finland
Operation for undescended or ectopic testis
12.7
6.6
11
9
UDQ12
NOMESCO Finland
Flexible laryngoscopy
4.6
6.5
21
48
XX9AW
NOMESCO Finland
Production of copy from X-ray picture
5.8
6.4
17
31
WX700
NOMESCO Finland
Respiratory and circulatory monitoring
2.5
6.4
52
235
H90.6
ICD-10 Finland
Mixed conductive and sensorineural hearing loss, bilateral
9.6
6.3
12
13
XF404
NOMESCO Finland
Ambulatory ECG
3.3
6.3
30
97
ZXA10
NOMESCO Finland
Bilateral
2.4
6.3
58
278
Q89.21
ICD-10 Finland
Congenital malformation of the thyroid gland
+∞
6.3
6
*
Q89.38
ICD-10 Finland
Another site inversus
+∞
6.3
6
*
EP1DG
NOMESCO Finland
Very extensive examination of soft tissue of neck with high intesity magnet
27.4
6.3
8
*
TDW99
NOMESCO Finland
Other minor procedure in surgery of ear, nose and larynx
6.0
6.2
16
28
AA5HE
NOMESCO Finland
Brain ultrasound examination in a child
4.6
6.2
20
46
Q21.00
ICD-10 Finland
Multiple ventricular septal defect
12.9
6.1
10
8
N30.9
ICD-10 Finland
Cystitis, unspecified
4.5
6.1
20
47

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
21
17
13.20
21.41
9.0
2.5
—
—
—
0
0
75
342
2.58
10.57
3.4
3.3
620.6
393.8
ng/l
0.32
41
218
62
271
2.62
9.45
2.4
2.2
—
—
—
0
0
65
292
2.56
9.37
13.3
10.5
—
—
—
0
0
90
473
2.28
9.14
5.3
4.4
—
—
—
0
0
62
285
2.48
8.46
2.7
1.7
—
—
—
0
0
181
1300
1.97
7.55
7.9
7.1
0.6
0.5
e9/l
2.31
164
1121
181
1305
1.96
7.41
7.9
7.1
0.0
0.0
e9/l
0.78
164
1124
44
183
2.64
7.34
8.4
12.3
0.8
0.7
mmol/l
0.03
34
148
64
317
2.29
7.33
9.3
8.2
1.9
1.6
mmol/l
0.37
56
245
15
30
5.21
7.26
1.6
1.2
—
—
—
0
0
184
1348
1.92
7.03
8.6
7.7
0.2
0.2
e9/l
0.11
166
1186
168
1199
1.90
6.91
8.0
7.4
0.7
0.7
%
0.23
160
1140
172
1243
1.88
6.74
7.9
7.2
2.9
3.0
%
0.09
166
1181
109
681
1.94
6.69
3.0
2.5
—
—
—
0
0
172
1250
1.87
6.56
7.9
7.4
8.6
8.2
%
0.89
166
1199
146
1010
1.86
6.49
15.9
8.8
1.2
1.2
mmol/l
1.14
139
937
104
647
1.92
6.42
5.6
3.4
0.2
0.3
e6/l
0.54
78
480
122
803
1.87
6.31
6.8
5.8
36.8
37.0
g/l
0.13
116
767
110
701
1.89
6.29
8.9
7.9
—
—
—
0
0
51
245
2.30
6.23
1.3
1.2
—
—
—
0
0
182
1362
1.84
6.16
8.0
7.0
2.1
2.2
e9/l
0.20
166
1206
128
865
1.83
6.02
6.8
4.1
30.1
46.9
e6/l
0.41
89
574
53
263
2.23
5.99
3.8
2.9
18.9
23.2
%
1.93
47
236
104
662
1.87
5.90
5.4
3.3
—
—
—
0
0
175
1306
1.80
5.86
7.9
7.2
31.7
32.0
%
0.15
167
1252
110
715
1.84
5.83
5.5
3.5
16.9
132.9
e6/l
0.68
83
538
81
477
1.95
5.81
3.8
2.8
4.9
8.3
e6/l
1.05
75
415
93
583
1.86
5.48
5.3
3.7
7.4
7.4
ph
—
9
96
26
96
2.87
5.42
11.4
16.8
—
—
—
0
0
150
1089
1.75
5.36
16.2
8.9
1.2
1.2
mmol/l
1.20
139
952
130
908
1.75
5.31
8.3
7.3
—
—
—
0
0
122
837
1.76
5.30
2.0
1.9
—
—
—
0
0
43
211
2.21
4.98
3.7
3.8
0.2
0.2
g/l
0.35
43
204
76
460
1.87
4.95
4.2
2.8
582.8
570.9
mosm/kgh2o
0.14
67
392
48
247
2.12
4.94
2.7
1.5
—
—
—
0
0
189
1484
1.72
4.93
10.4
9.9
4.1
3.8
e9/l
0.80
172
1279
140
1015
1.70
4.89
4.4
4.1
—
—
—
0
0
35
159
2.36
4.84
24.8
17.9
1.3
1.4
inr
—
6
26
92
598
1.77
4.72
3.1
2.5
—
—
—
0
0
12
29
4.27
4.67
2.0
2.0
—
—
—
0
0
12
29
4.27
4.67
2.0
2.0
—
—
—
0
0
12
29
4.27
4.67
2.0
2.0
—
—
—
0
0
12
29
4.27
4.67
2.0
2.0
—
—
—
0
0
27
111
2.57
4.61
12.0
12.3
0.6
0.7
%
0.48
27
111
84
539
1.77
4.48
2.7
2.5
2.9
2.9
mg/l
0.01
79
460
227
1906
1.75
4.34
4.8
3.8
14.4
14.5
pmol/l
0.21
220
1745
202
1646
1.68
4.30
8.5
6.6
96.5
90.2
u/l
0.70
195
1543
86
563
1.74
4.25
4.3
3.2
—
—
—
0
0
77
491
1.76
4.17
2.9
2.6
1.8
1.1
mg/l
0.45
63
357
266
2355
2.04
4.16
22.5
12.6
139.4
139.6
mmol/l
0.77
261
2289
12
32
3.86
4.12
2.3
3.9
—
620.1
—
0
7
99
680
1.68
4.09
9.5
5.9
1.3
1.1
inr
0.62
21
210
54
312
1.89
4.01
21.0
10.8
24.8
24.9
mmol/l
0.08
54
312
46
252
1.97
3.99
5.1
4.4
1.6
1.6
%
0.03
46
239
266
2364
2.00
3.98
22.6
12.6
3.9
3.9
mmol/l
0.14
259
2286
23
96
2.51
3.83
4.2
5.9
0.2
0.4
g/l
0.74
18
58
274
2481
2.06
3.56
19.5
11.4
19.6
21.3
mg/l
0.58
228
1828
21
87
2.52
3.56
2.7
9.6
—
—
—
0
0
9
17
5.42
3.53
1.8
3.0
150.4
165.1
ug/l
—
9
17
18
70
2.67
3.45
4.1
2.4
—
—
—
0
0
193
1600
1.56
3.43
5.7
4.0
—
—
—
0
0
28
135
2.18
3.40
2.2
2.1
11.6
6.0
u/l
0.74
16
100
37
199
1.98
3.39
10.8
10.8
1.1
1.2
mmol/l
0.48
37
186
281
2577
2.20
3.38
15.4
9.9
—
—
—
0
0
7
10
7.13
3.38
5.4
2.8
—
—
—
0
0
42
238
1.89
3.31
19.2
7.1
—
—
—
0
0
93
661
1.59
3.25
2.0
1.7
102.2
96.6
pmol/l
0.50
56
338
24
111
2.26
3.22
1.8
1.3
—
—
—
0
0
24
112
2.24
3.16
12.5
12.0
1.5
1.3
%
0.43
24
112
248
2203
1.68
3.10
5.3
4.3
1.8
1.8
mu/l
0.04
243
2046
34
187
1.92
2.93
1.9
1.9
16.4
18.7
iu/l
0.13
21
149
6
9
6.77
2.88
1.8
2.6
140.5
151.4
ug/g
—
6
9
31
168
1.94
2.79
3.3
2.0
11.3
13.3
nmol/l
0.69
24
155
160
1313
1.46
2.71
8.9
5.8
6.2
6.3
mmol/l
0.22
152
1205
6
10
6.09
2.71
5.5
7.6
—
—
—
0
0
26
134
2.03
2.69
2.0
1.4
—
—
—
0
0
32
179
1.88
2.64
3.2
3.5
68.9
67.4
e9/l
0.10
19
124
144
1163
1.45
2.63
4.4
3.3
0.0
0.0
estimate
0.00
15
212
295
2819
2.57
2.55
26.1
16.8
4.5
4.6
e12/l
1.16
289
2732
142
1149
1.44
2.54
6.8
4.6
0.0
0.0
estimate
0.00
15
221
295
2821
2.54
2.42
26.2
16.8
7.0
6.7
e9/l
1.83
290
2734
14
60
2.40
2.25
1.9
1.6
—
—
—
0
0
98
754
1.44
2.25
1.6
1.6
—
—
—
0
0
13
54
2.47
2.23
4.8
4.2
35.8
35.0
umol/l
0.05
13
49
11
42
2.68
2.21
5.3
4.6
412.8
354.6
umol/l
0.75
11
37
139
1142
1.40
2.20
4.2
3.2
0.0
0.0
estimate
0.00
14
211
83
623
1.46
2.16
3.4
3.5
8.3
8.2
mmol/l
0.09
75
548
43
279
1.63
2.16
8.1
4.2
11.8
8.3
umol/l
0.31
38
237
64
456
1.51
2.15
3.6
3.4
343.2
5958.4
umol/l
1.90
57
407
56
391
1.53
2.07
1.6
1.4
21.0
20.9
nmol/l
0.02
51
335
7
20
3.56
2.06
5.0
3.0
25.9
29.3
umol/l
—
7
20
35
218
1.68
2.05
2.3
1.4
—
—
—
0
0
195
1710
1.39
2.02
4.9
3.9
10.4
8.9
mm/h
0.90
185
1588
294
2816
2.34
1.96
26.2
16.8
266.6
260.7
e9/l
0.75
287
2737
33
208
1.66
1.86
1.4
1.6
—
—
—
0
0
6
17
3.58
1.84
2.2
1.5
—
—
—
0
0
13
60
2.22
1.80
1.1
4.1
—
—
—
0
0
8
29
2.80
1.80
2.4
3.6
—
—
—
0
0
33
210
1.64
1.80
1.3
1.6
—
—
—
0
0
33
211
1.63
1.77
1.3
1.6
—
—
—
0
0
23
133
1.79
1.75
3.5
2.2
—
—
—
0
0
33
212
1.62
1.74
1.3
1.6
—
—
—
0
0
5
13
3.89
1.72
2.0
2.7
1002.2
650.9
u/ml
—
5
13
6
19
3.20
1.67
1.5
1.4
13.7
19.3
umol/l
—
6
19
7
25
2.84
1.66
1.7
2.1
—
—
—
0
0
13
63
2.11
1.62
5.7
5.6
—
—
—
0
0
5
14
3.61
1.62
4.4
3.4
66.4
60.2
umol/l
—
5
14
11
50
2.25
1.59
3.1
11.7
—
—
—
0
0
18
100
1.85
1.56
1.3
2.0
—
—
—
0
0
7
27
2.63
1.52
5.0
2.3
—
—
—
0
0
10
45
2.26
1.48
2.8
12.0
77.0
69.5
%
—
10
45
6
22
2.76
1.44
4.0
2.5
—
—
—
0
0
9
40
2.29
1.41
1.1
5.4
—
—
—
0
0
6
23
2.64
1.37
1.0
1.1
—
—
—
0
0
5
17
2.97
1.36
1.4
3.4
—
—
—
0
0
260
2450
1.42
1.36
22.2
13.2
39.8
40.2
%
0.61
221
2041
0
37
0.00
1.35
0.0
1.5
—
—
—
0
0
26
170
1.58
1.31
1.4
1.7
—
—
—
0
0
204
1860
1.29
1.30
5.2
4.5
37.4
38.2
mmol/mol
0.71
199
1746
29
196
1.53
1.27
1.4
1.6
—
—
—
0
0
19
296
0.62
1.22
1.5
1.4
—
—
—
0
0
8
37
2.19
1.22
1.4
1.1
—
—
—
0
0
8
37
2.19
1.22
1.0
1.3
—
—
—
0
0
5
19
2.66
1.22
1.0
1.2
—
—
—
0
0
82
674
1.30
1.18
3.2
3.0
2.4
2.4
mmol/l
1.38
77
601
0
33
0.00
1.17
0.0
2.7
—
39.0
—
0
33
138
1213
1.25
1.14
12.8
9.5
0.0
0.0
e9/l
0.75
110
964
21
136
1.58
1.12
4.0
3.1
—
—
—
0
0
84
698
1.28
1.11
2.1
2.1
—
—
—
0
0
7
31
2.29
1.11
1.1
4.8
—
—
—
0
0
14
81
1.76
1.11
1.4
1.2
—
—
—
0
0
12
66
1.85
1.10
1.1
1.2
—
—
—
0
0
58
459
1.33
1.09
3.1
3.3
—
—
—
0
0
153
1367
1.24
1.08
3.8
2.9
—
—
—
0
0
9
47
1.94
1.03
4.6
3.1
12.7
3.6
u/ml
—
9
42
26
181
1.48
1.02
3.0
2.6
134.8
2007.4
u/l
0.79
13
68
7
35
2.02
1.00
1.0
1.1
—
—
—
0
0
56
448
1.31
0.98
3.5
4.1
5.5
11.6
mg/mmol
1.03
36
292
5
23
2.19
0.98
5.8
2.1
—
—
—
0
0
5
23
2.19
0.98
4.8
3.9
1.7
3.5
nmol/l
—
5
23
30
217
1.42
0.98
1.8
1.5
—
—
—
0
0
0
31
0.00
0.97
0.0
14.0
—
6.0
—
0
24
13
77
1.72
0.96
1.4
1.2
—
—
—
0
0
69
825
0.79
0.96
2.4
2.3
—
—
—
0
0
34
256
1.37
0.90
1.9
1.6
938.4
1203.8
nmol/l
1.26
29
194
6
29
2.09
0.90
3.2
17.5
12.0
12.8
%
—
6
29
23
161
1.46
0.89
1.9
1.5
—
—
—
0
0
8
42
1.93
0.89
2.0
2.5
—
—
—
0
0
14
87
1.64
0.89
1.1
1.0
5.7
6.0
u/ml
—
8
45
38
292
1.34
0.88
2.4
2.4
2.5
2.4
mmol/l
0.76
32
260
8
46
1.76
0.83
1.9
2.0
—
—
—
0
0
21
147
1.46
0.82
1.3
2.2
—
—
—
0
0
13
199
0.64
0.81
5.1
3.5
—
—
—
0
0
0
26
0.00
0.79
0.0
1.0
—
—
—
0
0
10
59
1.72
0.76
6.6
8.6
—
—
—
0
0
7
38
1.86
0.74
1.3
1.1
—
—
—
0
0
262
2524
1.28
0.73
11.7
8.9
27.4
26.2
u/l
0.26
253
2438
13
85
1.55
0.70
2.1
1.7
—
—
—
0
0
7
43
1.64
0.67
1.1
1.6
—
—
—
0
0
7
43
1.64
0.67
1.7
3.6
62.3
55.0
%
—
7
43
46
379
1.25
0.67
2.1
1.6
—
—
—
0
0
47
389
1.25
0.66
1.2
1.2
35.1
33.4
iu/ml
0.05
14
110
18
129
1.42
0.65
1.1
1.2
5.3
5.4
u/ml
—
10
98
14
96
1.48
0.62
2.0
2.3
—
—
—
0
0
5
30
1.68
0.61
5.0
5.8
1.6
1.9
ug/l
—
5
30
60
514
1.21
0.61
3.4
3.1
1.0
1.0
kg/l
0.32
12
86
0
20
0.00
0.60
0.0
1.2
—
62.8
—
0
7
51
431
1.22
0.60
3.5
3.4
32.2
87.8
mg/l
1.49
37
285
64
554
1.20
0.59
4.0
4.6
—
—
—
0
0
10
149
0.66
0.58
1.0
1.1
—
—
—
0
0
8
54
1.49
0.57
1.0
1.2
—
—
—
0
0
10
65
1.56
0.56
1.6
1.3
—
—
—
0
0
12
82
1.48
0.55
4.2
2.7
—
—
—
0
0
12
82
1.48
0.55
2.0
1.6
—
—
—
0
0
11
158
0.68
0.54
7.6
4.8
1.0
0.5
%
—
5
42
6
40
1.51
0.52
1.2
1.1
—
—
—
0
0
17
128
1.35
0.49
1.1
1.1
1.4
2.3
u/ml
—
6
40
23
183
1.28
0.46
2.1
2.2
—
20.5
—
0
10
37
435
0.83
0.46
1.9
2.6
62.1
90.8
ug/g
0.77
32
341
31
257
1.23
0.45
1.3
1.2
—
—
—
0
0
10
69
1.46
0.45
1.9
1.7
10.6
8.1
iu/l
—
5
22
19
148
1.30
0.44
1.7
1.7
—
—
—
0
0
11
78
1.43
0.43
1.1
1.2
—
—
—
0
0
19
149
1.29
0.43
1.4
1.2
—
—
—
0
0
12
87
1.39
0.43
1.4
1.6
—
—
—
0
0
21
168
1.27
0.41
1.1
1.2
—
31.1
—
0
5
0
15
0.00
0.41
0.0
2.7
—
—
—
0
0
11
79
1.41
0.41
1.1
1.2
—
—
—
0
0
0
17
0.00
0.41
0.0
8.7
—
8.0
—
0
17
0
18
0.00
0.40
0.0
1.1
—
—
—
0
0
18
142
1.28
0.39
1.2
1.2
1.0
3.2
u/ml
1.06
12
87
5
35
1.44
0.39
1.8
1.5
—
—
—
0
0
5
35
1.44
0.39
2.2
2.0
—
—
—
0
0
17
134
1.28
0.37
1.6
1.2
—
—
—
0
0
10
135
0.73
0.37
9.8
3.6
1.2
1.2
mmol/l
—
10
113
9
70
1.29
0.37
1.0
1.1
—
—
—
0
0
6
41
1.47
0.36
1.0
1.5
—
—
—
0
0
16
126
1.28
0.36
1.1
1.2
0.4
0.8
u/ml
—
8
89
6
43
1.40
0.35
1.5
3.2
5.6
4.3
e9/l
—
6
43
14
177
0.78
0.34
1.3
1.4
—
—
—
0
0
6
45
1.34
0.34
1.2
1.1
—
—
—
0
0
10
132
0.75
0.33
2.8
2.3
52.6
32.3
u/ml
—
10
126
23
194
1.20
0.30
2.8
2.8
0.7
0.8
ug/l
0.29
15
113
10
76
1.33
0.28
1.1
1.3
—
—
—
0
0
209
2034
1.09
0.25
4.1
3.5
5.8
5.7
mmol/l
0.27
199
1873
78
831
0.92
0.24
1.3
1.6
5.7
2.7
u/ml
0.26
13
194
5
39
1.29
0.23
7.0
3.7
—
—
—
0
0
20
172
1.17
0.22
1.8
1.6
—
—
—
0
0
5
40
1.25
0.22
5.8
3.2
—
—
—
0
0
38
344
1.12
0.22
1.2
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.3
—
—
—
0
0
0
11
0.00
0.21
0.0
10.9
—
—
—
0
0
0
11
0.00
0.21
0.0
5.1
—
—
—
0
0
0
11
0.00
0.21
0.0
24.5
—
0.5
—
0
11
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.3
—
2.8
—
0
12
0
12
0.00
0.21
0.0
1.2
—
—
—
0
0
5
43
1.17
0.21
3.2
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
10.5
—
263.2
—
0
6
59
629
0.92
0.19
3.4
2.9
—
—
—
0
0
37
339
1.10
0.18
1.5
1.4
413.3
362.6
titre
—
6
62
10
121
0.82
0.18
1.1
1.1
—
—
—
0
0
7
60
1.17
0.18
1.1
1.0
—
—
—
0
0
80
762
1.07
0.17
1.8
1.6
2.0
2.0
g/l
0.02
48
424
34
312
1.10
0.16
1.7
1.6
547.2
24723695.6
pmol/l
0.50
28
271
15
172
0.87
0.16
6.9
5.0
1.2
0.7
%
—
6
58
55
583
0.93
0.15
4.2
3.4
0.0
0.0
estimate
0.50
14
217
58
548
1.07
0.15
2.2
1.7
—
—
—
0
0
10
85
1.18
0.12
2.3
1.8
206.2
201.4
u/ml
—
10
46
41
387
1.07
0.11
1.3
1.2
12.7
7.3
u/ml
0.21
15
153
41
433
0.94
0.11
2.0
1.8
—
—
—
0
0
197
1995
0.96
0.08
3.8
3.3
1.2
1.2
mmol/l
0.23
192
1856
5
64
0.78
0.08
1.4
1.2
59.6
64.0
pmol/l
—
5
59
206
2082
0.97
0.07
4.2
3.6
1.4
1.5
mmol/l
0.90
201
1942
8
77
1.04
0.07
1.9
2.1
—
—
—
0
0
23
216
1.07
0.07
1.2
1.3
—
—
—
0
0
12
110
1.09
0.05
1.1
1.3
—
—
—
0
0
66
645
1.03
0.05
3.8
2.9
14.2
20.7
ng/l
1.12
37
352
13
139
0.93
0.03
4.0
4.1
3.2
11.2
ug/l
—
6
107
25
241
1.04
0.03
2.2
1.9
—
—
—
0
0
51
500
1.02
0.02
1.6
1.8
—
—
—
0
0
16
161
0.99
0.00
6.5
5.2
0.2
0.2
%
—
6
53
16
155
1.03
0.00
6.5
5.2
0.0
0.2
%
—
6
49
15
155
0.97
0.00
4.8
5.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
9
97
0.93
0.00
2.6
1.5
—
—
—
0
0
0
8
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
1.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.4
—
4.3
—
0
5
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
9
94
0.96
0.00
2.2
1.4
—
—
—
0
0
9
94
0.96
0.00
2.2
1.4
—
—
—
0
0
5
59
0.84
0.00
6.6
3.2
20.0
2394.1
u/ml
—
5
52
0
7
0.00
0.00
0.0
3.1
—
—
—
0
0
0
7
0.00
0.00
0.0
10.1
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED and mortality.

Females

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.187 [1.37, 3.49] 0.001
Birth year 1.0 [0.99, 1.01] 0.963

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 1318 females with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED 2.337 [1.7, 3.21] < 0.001
Birth year 0.989 [0.98, 1.0] 0.018

During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 1304 males with Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED.

N-year risk Females Males
1 0.212% 0.481%
5 1.422% 2.848%
10 3.576% 6.989%
15 6.823% 13.087%
20 12.109% 21.146%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CONGEN_MALFO_NOT_ELSEW_CLASSIFIED – Other congenital malformations, not elsewhere classified

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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