Other congenital malformations of tongue, mouth and pharynx

Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX

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 Q38
  • Cause of death: ICD-10 Q38

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

571

4. Check minimum number of events

None

571

5. Include endpoints

None

571

6. Filter based on genotype QC (FinnGen only)

538

Control definitions (FinnGen only)

Control exclude
Q17_OTHER_CONGEN_MALFO_DIGES_SYSTEM1

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF4
Parent code in ICD-10
Q3[8-9]|Q4[0-5]
Name in latin
Aliae malformationes congenitae linguae, oris et pharyngis

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 23446 7345 16093
Only index persons 13649 4330 9319
Unadjusted period prevalence (%)
Whole population 0.37 0.21 0.45
Only index persons 0.29 0.16 0.36
Median age at first event (years)
Whole population 4.11 4.22 4.05
Only index persons 5.22 5.35 5.16

-FinnGen-

Key figures

All Female Male
Number of individuals 538 282 256
Unadjusted period prevalence (%) 0.11 0.10 0.12
Median age at first event (years) 6.68 7.83 5.42

-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

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
570
Matched controls
5670
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
EJC20
NOMESCO Finland
Operation on frenulum of tongue
677.6
307.7
324
11
Q38.1
ICD-10 Finland
Ankyloglossia
2605.1
307.7
476
11
EAB10
NOMESCO Finland
Excision and repair of frenum of lip
27.9
14.3
19
7
Q38.08
ICD-10 Finland
Congenital malformations of lips, not elsewhere classified
+∞
12.5
12
*
Q38.7
ICD-10 Finland
Pharyngeal pouch
+∞
11.5
11
*
Q38.68
ICD-10 Finland
Congenital malformation of mouth NOS
111.4
10.4
11
*
UDC00
NOMESCO Finland
Ear microscopy
2.5
9.7
64
273
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
2.2
9.6
93
469
Q38.80
ICD-10 Finland
Congenital nasopharyngeal dysmotility
+∞
9.4
9
*
ZXD10
NOMESCO Finland
Scheduled procedure
1.8
9.1
188
1224
H65.3
ICD-10 Finland
Chronic mucoid otitis media
2.3
8.9
72
336
JD1EE
NOMESCO Finland
Ultrasound examination of gastro-oesophageal reflux
90.9
8.4
9
*
Q38.58
ICD-10 Finland
Congenital malformation of palate NOS
+∞
8.3
8
*
Z01.1
ICD-10 Finland
Examination of ears and hearing
2.0
8.0
99
545
ZXA10
NOMESCO Finland
Bilateral
1.9
7.5
99
556
EMB30
NOMESCO Finland
Adenotomy
1.9
7.5
99
557
ZXE00
NOMESCO Finland
One hour or less
1.7
7.3
208
1462
K22.5
ICD-10 Finland
Diverticulum of oesophagus, acquired
22.7
6.7
9
*
F82
ICD-10 Finland
Specific developmental disorder of motor function
3.2
6.6
25
79
A07AA02
ATC
nystatin; oral
3.5
6.6
22
64
WX408
NOMESCO Finland
General anesthesy, balanced
1.7
6.4
143
938
Q38.6
ICD-10 Finland
Other congenital malformations of mouth
+∞
6.2
6
*
Q38.60
ICD-10 Finland
Fordyce disease
+∞
6.2
6
*
Q38.2
ICD-10 Finland
Macroglossia
+∞
6.2
6
*
EJA10
NOMESCO Finland
Biopsy of tongue or floor of mouth
12.6
6.1
10
8

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
184
1334
1.55
5.36
6.3
6.1
37.14
37.56
g/l
0.48
178
1261
65
362
1.89
5.04
1.2
1.2
—
—
—
0
0
33
145
2.34
4.74
8.6
12.3
0.68
0.70
%
0.09
33
145
16
52
3.12
4.07
1.1
1.1
—
—
—
0
0
214
1684
1.42
3.90
11.4
9.7
1.22
1.23
mmol/l
1.05
206
1583
59
348
1.77
3.83
9.9
11.6
1.26
1.53
mmol/l
1.62
59
336
62
372
1.74
3.80
10.0
9.2
106.06
104.84
mmol/l
0.83
62
372
223
1785
1.40
3.62
11.1
9.1
1.22
1.22
mmol/l
0.77
206
1599
22
94
2.38
3.41
9.2
6.0
—
—
—
0
0
119
859
1.48
3.37
4.1
3.5
7.39
7.40
ph
0.21
20
147
77
506
1.59
3.35
2.1
1.7
—
—
—
0
0
138
1033
1.43
3.23
2.7
2.4
—
—
—
0
0
202
1617
1.38
3.20
3.0
2.8
73.57
69.40
nmol/l
1.39
193
1505
147
1117
1.42
3.16
12.9
7.7
1.17
1.11
inr
0.26
36
352
304
2597
1.35
3.16
6.7
5.8
93.38
96.80
u/l
0.40
289
2435
78
525
1.55
3.07
4.8
3.6
869.17
834.27
ng/l
0.03
43
295
151
1169
1.39
2.89
1.7
1.7
—
—
—
0
0
152
1182
1.38
2.83
3.3
2.7
—
—
—
0
0
44
262
1.73
2.81
10.1
11.6
-0.71
0.41
mmol/l
0.65
32
206
19
85
2.27
2.70
11.8
16.8
—
—
—
0
0
12
40
3.03
2.69
6.5
4.8
—
70.67
—
0
6
24
119
2.05
2.66
2.2
2.2
—
—
—
0
0
59
388
1.57
2.58
1.4
1.6
—
—
—
0
0
288
2490
1.30
2.54
9.2
8.5
0.21
0.20
e9/l
0.30
248
2148
310
2708
1.30
2.53
10.8
10.0
3.75
3.70
e9/l
0.14
272
2292
367
3282
1.32
2.51
3.9
3.5
14.89
14.49
pmol/l
2.43
338
2985
266
2279
1.30
2.50
8.6
8.3
—
—
—
0
0
103
767
1.41
2.46
4.0
4.1
—
—
—
0
0
280
2421
1.30
2.44
8.2
7.8
0.04
0.04
e9/l
0.50
238
2056
17
77
2.23
2.37
12.4
17.9
62.76
69.86
%
0.58
17
77
5
8
6.26
2.36
1.2
1.6
—
—
—
0
0
125
968
1.36
2.36
2.8
2.7
55.04
57.13
u/l
0.27
113
891
22
112
1.99
2.30
7.5
8.2
—
—
—
0
0
80
579
1.44
2.24
9.2
10.3
—
—
—
0
0
290
2538
1.28
2.23
8.1
7.7
2.40
2.22
e9/l
1.18
252
2215
321
2852
1.27
2.15
4.1
3.8
7.81
8.24
mm/h
0.36
308
2629
277
2422
1.27
2.10
8.2
7.8
0.54
0.55
e9/l
0.61
237
2059
78
569
1.42
2.10
8.2
8.8
0.83
0.82
mmol/l
0.32
72
542
5
10
5.01
2.06
1.2
3.6
—
—
—
0
0
64
454
1.45
2.00
3.4
2.6
21.50
23.50
%
0.63
58
415
20
104
1.95
2.00
7.4
2.7
1456.80
299.54
ug/l
0.53
20
94
31
187
1.69
1.95
5.1
3.3
—
—
—
0
0
8
27
2.97
1.93
1.5
1.2
—
—
—
0
0
102
791
1.34
1.91
3.0
2.3
330.11
400.96
u/l
0.21
95
757
56
397
1.45
1.77
1.3
1.3
171.60
118.94
iu/ml
0.42
27
139
24
139
1.75
1.75
1.3
1.5
—
3.46
—
0
5
462
4342
1.31
1.75
9.6
8.1
29.53
26.32
u/l
1.00
448
4189
122
984
1.30
1.73
4.2
3.2
—
—
—
0
0
105
830
1.32
1.73
2.7
3.1
5.16
7.58
e6/l
1.29
91
732
17
89
1.93
1.69
3.4
4.0
38.98
36.58
%
0.26
17
89
24
141
1.72
1.68
1.3
1.2
—
—
—
0
0
102
809
1.31
1.64
2.8
2.8
23.09
21.18
ng/l
0.10
42
363
204
1764
1.23
1.61
3.4
2.9
—
—
—
0
0
256
2268
1.22
1.59
8.1
8.1
0.62
0.63
%
0.20
245
2167
21
121
1.75
1.58
4.2
3.3
—
—
—
0
0
264
2348
1.22
1.58
8.3
8.1
8.02
8.23
%
0.62
252
2246
6
20
3.00
1.57
3.0
2.9
121.00
15.57
u/ml
—
6
20
82
635
1.33
1.56
8.6
9.0
1.45
1.00
mmol/l
0.55
64
483
10
44
2.28
1.55
6.8
4.4
—
—
—
0
0
262
2332
1.22
1.54
8.1
7.9
3.12
3.06
%
0.11
251
2222
96
762
1.30
1.54
4.8
3.2
2.61
1.36
mg/l
0.52
59
531
61
452
1.38
1.54
2.2
2.0
—
—
—
0
0
0
42
0.00
1.53
0.0
1.2
—
—
—
0
0
191
1649
1.23
1.51
5.8
6.3
18.22
17.65
umol/l
0.07
178
1532
310
2811
1.21
1.50
4.6
4.0
—
—
—
0
0
22
131
1.70
1.49
4.3
5.2
23.55
24.34
mmol/l
0.48
22
126
15
79
1.91
1.48
2.7
3.9
2.54
2.23
mmol/l
—
9
43
15
79
1.91
1.48
2.7
3.9
8.59
9.24
kpa
0.52
15
79
15
79
1.91
1.48
2.7
3.9
5.17
4.89
kpa
0.56
15
79
252
2245
1.21
1.45
7.0
6.1
5.95
6.14
mmol/l
0.85
229
2033
15
80
1.89
1.44
2.5
4.7
—
—
—
0
0
36
245
1.49
1.43
1.4
1.2
—
—
—
0
0
275
2473
1.21
1.42
7.9
7.7
34.01
33.57
%
0.23
262
2378
7
29
2.42
1.38
1.0
1.3
—
—
—
0
0
270
2430
1.20
1.37
7.8
7.6
51.04
51.86
%
0.44
258
2337
16
89
1.81
1.36
3.2
5.0
417.25
394.18
umol/l
0.22
16
82
5
17
2.94
1.35
4.2
4.5
—
—
—
0
0
11
54
2.05
1.32
17.5
24.3
11.85
11.99
%
0.05
11
54
0
41
0.00
1.31
0.0
1.2
—
—
—
0
0
150
1281
1.22
1.30
8.0
8.4
—
—
—
0
0
9
43
2.10
1.30
2.2
1.7
—
—
—
0
0
446
4224
1.23
1.26
17.9
13.7
13.69
13.62
%
0.15
438
4161
481
4594
1.27
1.25
11.0
8.4
—
—
—
0
0
99
1182
0.80
1.25
2.2
2.0
—
—
—
0
0
472
4499
1.25
1.24
13.4
10.2
20.78
21.23
mg/l
0.11
366
3239
6
25
2.40
1.24
2.3
8.1
—
—
—
0
0
12
63
1.91
1.22
1.8
1.3
—
—
—
0
0
11
56
1.97
1.21
1.6
1.7
—
—
—
0
0
97
799
1.25
1.18
2.7
3.0
509.21
588.04
mosm/kgh2o
2.93
82
686
38
273
1.41
1.18
1.6
2.0
16.59
8.61
iu/l
0.79
31
192
43
316
1.38
1.17
1.6
1.6
324.47
311.30
mu/l
0.10
38
287
22
142
1.56
1.13
13.0
16.0
—
—
—
0
0
47
354
1.35
1.11
1.2
1.2
—
—
—
0
0
11
58
1.90
1.11
1.5
2.0
—
—
—
0
0
46
346
1.35
1.10
2.0
2.5
47.15
31.78
u/l
0.39
39
283
286
2624
1.17
1.08
3.1
3.1
31.06
31.59
u/l
0.07
277
2506
72
579
1.27
1.08
8.9
5.6
31.84
30.62
s
0.67
72
566
348
3245
1.17
1.06
3.2
3.1
4.46
4.48
mmol/l
0.21
332
3079
11
59
1.87
1.06
1.2
1.0
—
—
—
0
0
7
33
2.12
1.05
6.1
5.5
21.50
22.26
ug/l
—
7
33
122
1043
1.21
1.05
1.8
1.6
94.06
100.28
pmol/l
0.68
67
542
10
52
1.93
1.05
6.8
4.0
—
—
—
0
0
9
45
2.01
1.05
23.8
14.9
458.44
682.89
nmol/l
—
9
45
22
146
1.52
1.02
2.7
1.5
—
—
—
0
0
39
290
1.36
1.01
1.5
1.4
—
—
—
0
0
426
4046
1.19
1.01
14.9
11.1
3.94
3.92
mmol/l
0.38
415
3896
336
3132
1.16
1.01
3.0
2.9
5.47
5.52
mmol/l
0.30
319
2873
135
1170
1.19
1.01
3.8
3.6
—
—
—
0
0
41
308
1.35
1.00
1.2
1.2
4.34
7.11
u/ml
1.19
27
234
14
83
1.69
1.00
4.9
4.0
478.89
283.77
e6/l
—
9
53
33
239
1.40
1.00
1.0
1.1
—
—
—
0
0
144
1256
1.19
1.00
4.2
3.8
58.73
87.15
e6/l
0.18
114
947
121
1040
1.20
0.99
3.6
2.4
2.64
2.65
mg/l
0.02
110
917
0
29
0.00
0.98
0.0
1.2
—
230.48
—
0
29
0
29
0.00
0.98
0.0
2.2
—
2.71
—
0
29
327
3048
1.16
0.96
3.0
2.9
1.15
1.17
mmol/l
0.22
310
2869
9
50
1.80
0.96
2.3
1.4
13.00
12.94
%
—
9
50
40
303
1.34
0.94
1.2
1.2
0.30
1.10
u/ml
1.51
24
213
133
1159
1.18
0.93
4.1
3.7
0.15
0.27
e6/l
0.93
105
863
7
37
1.89
0.93
1.3
1.3
—
—
—
0
0
20
133
1.51
0.93
3.9
3.8
2.61
4.79
ug/l
0.71
15
96
15
93
1.62
0.93
1.0
1.2
—
—
—
0
0
44
339
1.32
0.92
1.2
1.2
2.06
2.85
u/ml
0.36
33
242
25
175
1.44
0.92
1.1
1.1
9.17
9.17
u/ml
0.00
18
110
400
3796
1.16
0.89
4.5
4.0
1.90
1.89
mu/l
0.09
380
3557
6
29
2.07
0.89
1.2
1.1
—
—
—
0
0
297
2760
1.15
0.89
3.7
3.8
36.86
37.15
mmol/mol
0.19
282
2607
424
4042
1.17
0.89
15.0
11.1
139.49
139.47
mmol/l
0.08
413
3915
109
938
1.19
0.88
4.2
3.2
1.01
1.02
kg/l
0.51
15
148
65
533
1.24
0.85
10.6
8.0
—
—
—
0
0
11
65
1.70
0.81
2.5
1.8
0.37
1.49
ug/l
1.37
11
58
75
629
1.21
0.80
3.4
3.6
321.37
2617.90
umol/l
1.34
68
566
0
25
0.00
0.79
0.0
1.6
—
0.90
—
0
19
7
121
0.57
0.78
2.0
2.5
0.45
0.56
nmol/l
—
7
102
29
216
1.35
0.78
2.6
2.1
—
—
—
0
0
11
66
1.67
0.78
3.5
6.1
—
—
—
0
0
7
38
1.84
0.73
1.1
1.1
—
—
—
0
0
118
1041
1.16
0.72
3.1
2.7
2.37
2.38
mmol/l
0.22
107
937
51
416
1.24
0.72
2.4
2.2
2.41
2.41
mmol/l
0.00
41
353
97
843
1.17
0.72
3.8
2.7
104.61
109.61
ug/g
0.09
80
662
40
494
0.79
0.71
1.6
1.5
—
—
—
0
0
82
703
1.19
0.71
3.6
3.4
3.48
2.77
e6/l
0.18
45
399
9
141
0.63
0.70
1.4
1.4
4.06
5.15
ug/l
—
9
132
5
26
1.92
0.70
1.4
3.1
—
—
—
0
0
55
654
0.82
0.70
2.4
1.9
—
—
—
0
0
7
41
1.71
0.69
1.1
3.2
27.29
25.32
umol/l
—
7
41
237
2198
1.12
0.69
3.9
2.9
63.47
63.49
ug/l
0.00
230
2064
26
195
1.34
0.68
1.2
1.1
4.66
5.93
u/ml
0.26
20
137
13
85
1.53
0.68
3.2
3.6
31.98
27.17
mg/l
—
8
57
93
810
1.17
0.68
1.6
1.8
1.29
1.36
mmol/l
0.36
85
722
26
196
1.33
0.67
1.1
1.4
—
—
—
0
0
530
5181
1.25
0.66
20.6
15.4
40.37
41.17
%
0.41
504
4954
21
153
1.38
0.66
4.0
3.6
451.57
434.91
mg/l
0.05
21
148
183
1675
1.13
0.66
3.7
3.1
6.46
6.10
ph
0.84
14
168
530
5182
1.25
0.65
19.9
15.0
87.59
87.65
fl
0.10
522
5115
13
86
1.52
0.65
2.2
2.5
—
—
—
0
0
20
145
1.39
0.65
4.1
3.8
2.93
6.58
e6/l
1.03
15
106
48
573
0.82
0.64
4.0
4.3
6.59
14.83
mg/mmol
0.99
36
396
530
5183
1.24
0.64
19.9
15.0
29.43
29.44
pg
0.04
522
5117
530
5184
1.24
0.63
19.9
15.0
4.65
4.62
e12/l
0.77
504
4984
41
332
1.25
0.63
1.7
2.0
0.99
1.14
g/l
0.60
41
311
8
49
1.63
0.62
3.0
5.5
—
—
—
0
0
530
5186
1.24
0.61
19.9
15.0
6.87
6.83
e9/l
0.16
506
4986
19
138
1.38
0.61
4.2
3.8
3.27
3.43
mmol/l
0.93
19
130
213
1975
1.12
0.61
5.1
4.6
0.00
0.00
estimate
-0.00
33
411
66
564
1.19
0.61
1.2
1.2
16.65
21.73
iu/ml
0.42
21
145
529
5176
1.23
0.61
20.0
15.1
263.34
263.34
e9/l
0.00
504
4984
530
5188
1.23
0.59
20.1
15.2
136.16
135.58
g/l
0.45
522
5121
0
22
0.00
0.59
0.0
1.2
—
—
—
0
0
63
538
1.19
0.59
1.3
1.4
305.45
433.04
titre
0.48
11
92
8
53
1.51
0.58
1.6
1.7
—
—
—
0
0
6
35
1.71
0.57
1.0
1.2
—
—
—
0
0
6
35
1.71
0.57
1.0
1.0
—
—
—
0
0
337
3212
1.11
0.56
3.2
3.0
1.42
1.42
mmol/l
0.04
319
3030
36
292
1.24
0.56
17.0
18.0
1.19
1.09
mg/l
0.53
36
284
24
185
1.30
0.55
2.7
3.8
1.23
1.23
mmol/l
0.05
24
165
341
3255
1.10
0.54
3.4
3.1
2.69
2.71
mmol/l
0.17
319
3059
10
65
1.54
0.54
2.0
2.3
—
—
—
0
0
19
142
1.34
0.53
1.2
1.1
—
—
—
0
0
16
116
1.38
0.53
1.3
1.6
1.01
5.48
u/ml
1.36
11
84
38
313
1.22
0.52
1.7
2.0
7.42
6.28
u/l
0.36
29
224
46
387
1.20
0.52
1.6
1.3
—
—
—
0
0
6
40
1.50
0.51
47.8
44.4
7.68
6.78
ug/l
—
6
34
17
126
1.35
0.50
1.6
1.7
—
—
—
0
0
127
1157
1.12
0.50
1.6
1.7
—
—
—
0
0
27
215
1.26
0.50
1.6
1.6
—
—
—
0
0
13
92
1.42
0.49
1.8
3.7
3.57
3.46
e9/l
0.11
13
92
240
2261
1.10
0.49
9.8
9.7
0.00
0.01
e9/l
0.45
185
1754
58
661
0.86
0.49
2.3
2.0
—
—
—
0
0
43
502
0.84
0.48
1.2
1.2
—
—
—
0
0
58
659
0.86
0.47
2.3
2.0
—
—
—
0
0
7
47
1.49
0.47
2.3
1.2
—
—
—
0
0
24
190
1.27
0.47
1.5
1.6
—
—
—
0
0
7
48
1.46
0.46
1.1
2.4
92.31
91.20
%
—
7
48
211
1981
1.09
0.46
3.9
3.2
0.00
0.00
estimate
-0.00
32
408
212
1991
1.09
0.46
3.9
3.3
0.00
0.00
estimate
-0.00
30
397
18
137
1.32
0.46
3.0
2.4
—
—
—
0
0
18
137
1.32
0.46
4.1
3.9
—
—
—
0
0
12
85
1.41
0.46
1.0
1.1
—
—
—
0
0
36
300
1.21
0.46
7.7
4.9
66.92
66.28
e9/l
0.03
21
194
20
155
1.29
0.46
1.8
1.6
—
—
—
0
0
13
94
1.38
0.45
2.5
4.0
47.92
51.36
%
0.55
13
94
56
487
1.16
0.45
2.5
2.5
2212.50
5025.52
u/l
1.40
22
192
28
228
1.23
0.44
5.2
3.9
—
—
—
0
0
58
654
0.87
0.44
2.3
2.0
—
—
—
0
0
18
228
0.78
0.43
1.7
1.5
—
—
—
0
0
5
31
1.61
0.43
1.0
2.2
—
—
—
0
0
176
1645
1.09
0.42
1.7
1.6
5.16
2.98
u/ml
0.38
40
334
14
104
1.35
0.42
1.4
1.6
0.36
0.37
nmol/l
0.04
14
88
0
15
0.00
0.41
0.0
1.2
—
67.07
—
0
15
0
16
0.00
0.41
0.0
3.6
—
10.46
—
0
10
13
96
1.36
0.40
3.0
1.8
—
—
—
0
0
5
35
1.42
0.39
1.8
1.3
—
—
—
0
0
142
1508
0.92
0.38
1.7
1.6
1.50
1.81
g/l
2.79
85
804
164
1536
1.09
0.38
4.9
4.3
16.60
64.63
e6/l
3.29
121
1003
11
80
1.38
0.37
1.1
1.3
—
—
—
0
0
44
382
1.16
0.37
1.8
1.6
1156.92
1093.70
nmol/l
0.20
36
294
61
543
1.13
0.37
1.2
1.2
1.46
6.75
u/ml
3.25
14
203
18
222
0.80
0.36
1.6
1.5
—
—
—
0
0
18
222
0.80
0.36
1.7
1.5
—
—
—
0
0
6
41
1.46
0.36
1.2
1.3
—
—
—
0
0
5
76
0.65
0.36
2.0
1.4
—
—
—
0
0
11
81
1.36
0.35
1.0
1.1
—
—
—
0
0
88
804
1.10
0.35
1.7
1.6
—
—
—
0
0
21
171
1.23
0.35
1.1
1.1
0.18
0.42
u/ml
0.78
12
84
6
44
1.36
0.34
2.7
2.4
44333.33
40400.11
ug/l
—
6
44
140
1309
1.08
0.34
1.6
1.7
—
—
—
0
0
19
154
1.24
0.33
2.5
3.3
0.09
0.17
e6/l
0.66
19
147
6
46
1.30
0.33
1.3
1.1
—
—
—
0
0
33
284
1.17
0.32
1.1
1.3
219.28
269.08
miu/ml
0.36
17
142
27
314
0.85
0.32
1.3
1.2
—
—
—
0
0
19
155
1.23
0.31
1.0
1.0
9.45
8.48
mu/l
0.47
19
138
24
201
1.20
0.31
1.3
1.2
—
—
—
0
0
12
152
0.78
0.30
1.6
1.3
—
—
—
0
0
56
615
0.90
0.30
2.3
2.0
—
—
—
0
0
7
54
1.29
0.30
1.4
2.1
2.33
1.83
mmol/l
—
7
54
73
667
1.10
0.30
1.1
1.2
—
—
—
0
0
7
56
1.25
0.29
19.7
9.6
13.50
9.73
mg/l
—
7
51
71
650
1.10
0.28
2.8
2.8
—
—
—
0
0
15
121
1.24
0.27
1.5
1.6
32.56
14.69
u/ml
—
9
85
12
94
1.28
0.27
13.8
9.9
—
—
—
0
0
11
85
1.29
0.27
4.1
2.2
—
—
—
0
0
50
548
0.90
0.27
3.4
3.8
1369.03
107.28
mg/l
0.48
39
389
111
1042
1.07
0.25
4.2
3.3
0.00
0.00
estimate
0.50
33
396
9
74
1.21
0.25
1.4
1.1
—
—
—
0
0
12
96
1.25
0.24
5.8
5.2
—
—
—
0
0
15
124
1.21
0.23
2.7
3.1
12.68
25.38
mu/l
1.12
15
118
24
208
1.15
0.23
1.6
1.4
—
—
—
0
0
5
39
1.28
0.23
2.4
2.2
48.00
35.21
mmol/l
—
5
39
5
40
1.25
0.22
1.4
1.7
—
—
—
0
0
47
510
0.91
0.22
2.5
2.1
—
—
—
0
0
5
41
1.21
0.22
1.0
1.0
—
—
—
0
0
5
41
1.21
0.22
1.2
2.3
—
—
—
0
0
34
304
1.12
0.21
1.2
1.2
4.46
2.34
u/ml
0.45
26
226
0
10
0.00
0.21
0.0
2.2
—
—
—
0
0
5
42
1.19
0.21
1.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
6
47
1.27
0.20
1.5
1.2
—
—
—
0
0
6
47
1.27
0.20
2.0
2.0
—
—
—
0
0
103
1077
0.94
0.20
4.2
3.9
7.31
8.61
mmol/l
1.87
95
982
0
14
0.00
0.20
0.0
2.8
—
448.89
—
0
9
0
14
0.00
0.20
0.0
1.4
—
9.24
—
0
14
0
14
0.00
0.20
0.0
2.4
—
545.00
—
0
9
23
259
0.88
0.20
3.9
4.6
0.64
0.60
%
0.04
11
84
10
121
0.82
0.19
2.9
1.7
3.40
6.78
iu/l
—
5
40
209
2020
1.05
0.18
3.2
2.5
—
—
—
0
0
8
68
1.17
0.16
5.3
5.5
1.26
2.37
ug/l
—
8
68
10
82
1.22
0.16
3.4
3.7
—
—
—
0
0
34
367
0.92
0.15
3.4
3.4
—
—
—
0
0
154
1576
0.96
0.14
1.6
1.7
—
—
—
0
0
29
265
1.09
0.13
1.2
1.3
—
—
—
0
0
13
112
1.16
0.13
1.2
1.4
—
—
—
0
0
53
499
1.06
0.13
5.0
4.2
4.86
7.70
umol/l
1.68
44
411
16
178
0.89
0.12
2.7
2.6
6.48
6.98
umol/l
0.07
11
137
11
126
0.87
0.12
1.0
1.0
—
—
—
0
0
106
1089
0.96
0.12
2.6
2.8
—
—
—
0
0
12
135
0.88
0.10
1.3
1.2
—
—
—
0
0
10
114
0.87
0.10
3.9
9.4
23.29
23.50
mmol/l
—
10
108
5
43
1.16
0.10
1.0
1.1
—
—
—
0
0
38
399
0.94
0.09
2.3
2.0
—
—
—
0
0
14
125
1.12
0.09
1.0
1.1
—
—
—
0
0
12
106
1.13
0.09
1.7
1.4
267.43
366.55
ug/g
—
7
59
13
116
1.12
0.08
1.2
1.2
—
—
—
0
0
18
165
1.09
0.08
6.2
3.1
65.39
65.45
g/l
0.01
18
154
46
477
0.96
0.08
1.3
1.5
—
—
—
0
0
6
71
0.84
0.07
2.7
7.2
—
—
—
0
0
19
201
0.94
0.05
8.7
6.5
0.30
0.30
g/l
0.00
13
138
27
258
1.04
0.04
4.4
5.2
0.00
0.06
%
0.99
11
72
30
288
1.04
0.03
2.9
2.6
—
—
—
0
0
22
228
0.96
0.03
1.1
1.1
—
—
—
0
0
23
238
0.96
0.03
1.5
1.7
78.11
175.94
u/ml
—
9
121
27
278
0.96
0.03
4.5
5.1
0.92
0.71
%
0.17
13
96
172
1724
0.99
0.02
2.4
2.2
—
—
—
0
0
118
1185
0.99
0.02
2.0
1.8
—
—
—
0
0
26
266
0.97
0.01
4.3
5.2
0.09
0.04
%
0.25
11
83
44
445
0.98
0.01
2.6
2.7
—
—
—
0
0
19
195
0.97
0.00
3.2
2.3
0.71
0.72
ug/l
0.03
11
111
13
125
1.04
0.00
1.2
1.2
—
—
—
0
0
15
145
1.03
0.00
1.1
1.1
—
—
—
0
0
11
109
1.00
0.00
1.3
1.5
—
—
—
0
0
15
146
1.02
0.00
1.1
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.4
—
—
—
0
0
6
62
0.96
-0.00
4.8
8.2
148.45
82.42
g/mol
—
6
56
5
53
0.94
-0.00
1.4
1.2
—
391.25
—
0
8
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.8
—
6.66
—
0
5
0
5
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
5
55
0.90
-0.00
1.4
3.4
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
21.02
—
0
5
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
5.0
—
—
—
0
0
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
5
0.00
-0.00
0.0
2.8
—
3.32
—
0
5
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
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
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
5
0.00
-0.00
0.0
1.4
—
16.41
—
0
5
0
6
0.00
-0.00
0.0
1.2
—
88.68
—
0
6

Mortality – FinRegistry

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX 1.047 [0.75, 1.46] 0.786
Birth year 0.989 [0.98, 1.0] 0.023

During the follow-up period (1.1.1998 — 31.12.2019), 75 out of 14267 males with Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX.

N-year risk Females Males
1 No data 0.197%
5 No data 1.328%
10 No data 3.426%
15 No data 6.658%
20 No data 11.252%

Relationships between endpoints

Index endpoint: Q17_OTHER_CONGEN_MALFO_TONGUE_MOUTH_PHARYNX – Other congenital malformations of tongue, mouth and pharynx

GWS hits: 1

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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