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

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 Q38
  • Cause of death: ICD-10 Q38

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

565

4. Check minimum number of events

None

565

5. Include endpoints

None

565

6. Filter based on genotype QC (FinnGen only)

565

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 565 292 273
Unadjusted period prevalence (%) 0.11 0.10 0.12
Median age at first event (years) 6.67 7.79 5.47

-FinRegistry-

Age distribution of first events

010203040506070800k2k4k6k8k10k12k14k16k18k20kAgeIndividuals

-FinnGen-

Age distribution of first events

010203040506070050100150200250300350AgeIndividuals

-FinRegistry-

Year distribution of first events

1970197519801985199019952000200520102015202020220.0k0.5k1.0k1.5k2.0k2.5k3.0k3.5k4.0k4.5k5.0k5.5k6.0k6.5kYearIndividuals

-FinnGen-

Year distribution of first events

197019751980198519901995200020052010201520202023020406080100120140YearIndividuals

-FinRegistry-

Cumulative Incidence Function

01020304050607080901000.00.20.40.60.81.01.21.41.61.82.02.22.42.62.83.0AgeProbability of first incidence (%)

-FinnGen-

Cumulative Incidence Function

01020304050607080901000.00.20.40.60.81.01.21.41.61.82.02.22.42.62.83.0AgeProbability of first incidence (%)

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
477
Matched controls
4754
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
Q38.1
ICD-10 Finland
Ankyloglossia
4228.9
323.0
398
6
EJC20
NOMESCO Finland
Operation on frenulum in mouth
692.5
306.3
272
9
EAB10
NOMESCO Finland
Excision and repair of frenum of lip
25.7
11.2
15
6
Q38.68
ICD-10 Finland
Congenital malformation of mouth NOS
+∞
10.4
10
*
Q38.08
ICD-10 Finland
Congenital malformations of lips, not elsewhere classified
+∞
10.4
10
*
Q38.58
ICD-10 Finland
Congenital malformation of palate NOS
+∞
8.3
8
*
DCA20
NOMESCO Finland
Insertion of ventilating tube through tympanic membrane
2.2
7.6
77
375
EMB30
NOMESCO Finland
Adenotomy
2.1
7.3
88
465
K22.5
ICD-10 Finland
Diverticulum of oesophagus, acquired
+∞
7.3
7
*
Q38.80
ICD-10 Finland
Congenital nasopharyngeal dysmotility
+∞
7.3
7
*
Q38.7
ICD-10 Finland
Pharyngeal pouch
+∞
7.3
7
*
JD1EE
NOMESCO Finland
Ultrasound examination of gastro-oesophageal reflux
+∞
7.3
7
*
ZXA10
NOMESCO Finland
Bilateral
2.1
7.0
86
457
A07AA02
ATC
nystatin; oral
4.6
6.5
21
47
UDC00
NOMESCO Finland
Ear microscopy
2.4
6.5
54
240
F80.1
ICD-10 Finland
Expressive language disorder
3.8
6.3
25
69
Q38.60
ICD-10 Finland
Fordyce disease
+∞
6.3
6
*
Q38.2
ICD-10 Finland
Macroglossia
+∞
6.3
6
*

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
181
1312
1.55
5.27
6.1
6.1
37.25
37.56
g/l
0.34
175
1237
64
359
1.87
4.86
1.2
1.2
—
—
—
0
0
16
52
3.12
4.07
1.1
1.1
—
—
—
0
0
210
1653
1.42
3.81
10.7
9.4
1.22
1.23
mmol/l
0.81
202
1547
219
1752
1.40
3.57
10.5
8.9
1.22
1.22
mmol/l
0.71
202
1559
59
362
1.69
3.35
8.8
8.3
106.07
104.89
mmol/l
0.75
59
355
117
846
1.47
3.29
3.9
3.5
7.39
7.40
ph
0.21
20
147
211
1706
1.37
3.14
8.1
8.0
—
—
—
0
0
199
1595
1.37
3.12
3.0
2.8
73.68
69.33
nmol/l
1.45
190
1484
19
80
2.41
3.05
11.8
13.7
—
—
—
0
0
21
93
2.29
3.03
5.8
6.0
—
—
—
0
0
12
40
3.03
2.96
6.5
4.9
—
70.67
—
0
6
299
2567
1.34
2.94
6.7
5.8
92.75
96.53
u/l
0.46
284
2406
76
515
1.54
2.91
4.9
3.6
888.65
851.11
ng/l
0.03
42
289
59
377
1.62
2.89
1.4
1.6
—
—
—
0
0
74
500
1.54
2.87
2.0
1.7
—
—
—
0
0
24
116
2.10
2.83
2.2
2.2
—
—
—
0
0
149
1159
1.38
2.77
1.7
1.7
—
—
—
0
0
150
1169
1.38
2.75
3.2
2.6
—
—
—
0
0
17
72
2.39
2.72
12.4
14.4
62.76
70.72
%
0.67
17
72
131
1001
1.39
2.70
2.8
2.4
—
—
—
0
0
129
990
1.38
2.59
9.0
5.0
1.09
1.09
inr
0.01
34
310
42
257
1.68
2.45
8.9
11.6
-0.69
0.34
mmol/l
0.54
30
200
305
2674
1.29
2.37
10.5
9.8
3.74
3.70
e9/l
0.11
267
2267
283
2458
1.29
2.37
8.9
8.3
0.21
0.20
e9/l
0.31
243
2127
5
8
6.26
2.36
1.2
1.6
—
—
—
0
0
124
960
1.37
2.35
2.8
2.7
55.26
56.39
u/l
0.13
112
884
361
3243
1.30
2.29
3.9
3.5
14.88
14.49
pmol/l
2.30
332
2953
275
2390
1.28
2.25
7.9
7.7
0.04
0.04
e9/l
0.29
232
2034
78
563
1.44
2.22
9.2
10.4
—
—
—
0
0
99
752
1.38
2.11
3.9
4.1
—
—
—
0
0
285
2503
1.27
2.09
7.8
7.5
2.40
2.22
e9/l
1.15
246
2182
316
2812
1.27
2.07
4.1
3.7
7.79
8.19
mm/h
0.33
303
2593
5
10
5.01
2.06
1.2
3.6
—
—
—
0
0
21
110
1.93
2.05
4.5
8.3
—
—
—
0
0
76
558
1.41
1.98
7.7
8.6
0.81
0.81
mmol/l
0.02
69
530
272
2389
1.26
1.95
7.9
7.6
0.54
0.55
e9/l
0.82
232
2031
8
27
2.97
1.93
1.5
1.2
—
—
—
0
0
62
442
1.44
1.90
3.4
2.6
21.77
23.30
%
0.44
56
404
24
138
1.76
1.79
1.3
1.2
—
—
—
0
0
30
185
1.65
1.76
5.1
3.4
—
—
—
0
0
100
784
1.33
1.74
2.7
2.3
277.10
402.34
u/l
0.47
93
750
104
820
1.32
1.74
2.7
3.1
5.23
7.50
e6/l
1.15
89
716
81
616
1.36
1.73
8.6
8.6
1.43
1.06
mmol/l
0.40
61
464
120
968
1.30
1.70
4.1
3.2
—
—
—
0
0
55
394
1.43
1.66
1.3
1.3
171.60
119.61
iu/ml
0.41
27
137
456
4294
1.29
1.63
9.4
8.1
29.62
26.37
u/l
1.01
442
4144
21
120
1.77
1.62
4.3
3.4
—
—
—
0
0
23
136
1.71
1.58
1.3
1.5
—
3.46
—
0
5
6
20
3.00
1.57
3.0
3.0
121.00
15.57
u/ml
—
6
20
101
805
1.30
1.57
2.8
2.8
23.66
20.98
ng/l
0.14
41
360
24
144
1.69
1.57
11.2
13.4
22.77
23.95
mmol/l
0.74
24
139
15
78
1.94
1.53
2.7
4.0
5.17
4.91
kpa
0.52
15
78
15
78
1.94
1.53
2.7
4.0
2.54
2.23
mmol/l
—
9
43
15
78
1.94
1.53
2.7
4.0
8.59
9.16
kpa
0.44
15
78
0
42
0.00
1.53
0.0
1.2
—
—
—
0
0
252
2237
1.22
1.53
7.9
7.9
0.61
0.63
%
0.33
241
2137
201
1746
1.23
1.50
4.5
4.2
—
—
—
0
0
306
2772
1.21
1.50
4.7
3.9
—
—
—
0
0
11
51
2.17
1.49
17.5
19.1
11.85
12.27
%
0.15
11
51
16
86
1.88
1.49
3.9
3.9
10.73
9.49
%
0.19
11
74
15
79
1.91
1.48
2.5
4.7
—
—
—
0
0
36
244
1.50
1.45
1.4
1.2
—
—
—
0
0
10
45
2.23
1.45
6.8
4.3
—
—
—
0
0
259
2315
1.21
1.44
8.1
7.9
7.99
8.25
%
0.88
247
2214
18
102
1.78
1.44
5.7
2.7
408.61
296.70
ug/l
0.30
18
92
257
2298
1.21
1.42
7.9
7.8
3.11
3.04
%
0.13
246
2183
16
88
1.83
1.40
3.3
5.0
417.25
393.69
umol/l
0.22
16
81
59
443
1.36
1.39
2.2
2.0
—
—
—
0
0
7
29
2.42
1.38
1.0
1.3
—
—
—
0
0
248
2214
1.20
1.38
6.6
5.9
5.93
6.14
mmol/l
0.96
225
2002
21
127
1.67
1.36
3.9
5.3
23.45
24.36
mmol/l
0.55
21
122
5
17
2.94
1.35
4.2
4.5
—
—
—
0
0
97
1170
0.79
1.34
2.2
2.0
—
—
—
0
0
93
751
1.28
1.32
4.6
3.3
2.23
1.38
mg/l
0.32
56
521
453
4294
1.25
1.32
12.5
10.0
66.56
65.82
umol/l
0.12
453
4289
43
309
1.42
1.31
1.6
1.6
324.47
310.79
mu/l
0.11
38
281
270
2438
1.19
1.31
7.7
7.6
34.26
33.51
%
0.44
255
2340
0
41
0.00
1.31
0.0
1.2
—
—
—
0
0
38
267
1.45
1.31
1.6
2.0
16.59
8.64
iu/l
0.78
31
188
96
782
1.27
1.28
2.7
3.0
512.28
590.68
mosm/kgh2o
2.87
81
671
11
55
2.01
1.26
1.5
2.0
—
—
—
0
0
265
2395
1.19
1.26
7.6
7.4
50.99
51.92
%
0.52
253
2301
16
92
1.75
1.24
3.9
3.8
1.97
1.29
e9/l
1.09
11
59
22
139
1.60
1.22
13.0
16.1
—
—
—
0
0
47
349
1.37
1.20
1.2
1.2
—
—
—
0
0
466
4446
1.24
1.18
12.9
10.1
20.85
21.31
mg/l
0.11
361
3197
46
342
1.37
1.17
2.0
2.5
47.15
31.81
u/l
0.39
39
280
11
57
1.94
1.16
1.6
1.8
—
—
—
0
0
185
1631
1.19
1.15
5.7
6.2
17.30
17.58
umol/l
0.04
172
1515
5
20
2.50
1.14
1.4
1.4
—
—
—
0
0
284
2597
1.18
1.14
3.1
3.1
31.05
31.48
u/l
0.06
275
2480
334
3096
1.18
1.14
3.0
2.9
5.46
5.52
mmol/l
0.30
317
2841
146
1263
1.20
1.11
7.9
8.5
—
—
—
0
0
475
4550
1.24
1.10
10.6
8.4
—
—
—
0
0
33
235
1.42
1.09
1.0
1.1
—
—
—
0
0
435
4133
1.21
1.08
17.3
13.5
13.25
13.19
%
0.44
427
4070
7
32
2.19
1.08
6.1
4.8
21.50
22.22
ug/l
—
7
32
39
287
1.38
1.07
1.5
1.4
—
—
—
0
0
11
59
1.87
1.06
1.2
1.0
—
—
—
0
0
133
1147
1.20
1.05
3.8
3.6
—
—
—
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
20
130
1.55
1.02
3.9
3.9
2.61
4.85
ug/l
0.71
15
94
25
171
1.48
1.02
1.1
1.2
9.17
9.42
u/ml
0.02
18
106
344
3213
1.17
1.01
3.2
3.1
4.46
4.48
mmol/l
0.16
324
3039
14
83
1.70
1.00
1.4
2.0
—
—
—
0
0
14
83
1.70
1.00
1.4
2.0
—
—
—
0
0
14
83
1.70
1.00
1.4
2.0
—
—
—
0
0
14
83
1.70
1.00
1.4
2.0
—
—
—
0
0
10
53
1.89
1.00
6.9
4.1
—
—
—
0
0
7
35
2.00
0.99
1.3
1.3
—
—
—
0
0
15
91
1.66
0.99
1.0
1.2
—
—
—
0
0
0
29
0.00
0.98
0.0
2.2
—
2.71
—
0
29
11
61
1.81
0.97
1.5
1.3
—
—
—
0
0
0
30
0.00
0.97
0.0
1.2
—
225.06
—
0
30
131
1137
1.19
0.96
4.1
3.6
0.15
0.27
e6/l
0.88
104
846
119
1024
1.20
0.96
3.6
2.4
2.55
2.66
mg/l
0.29
108
903
9
50
1.80
0.96
2.3
1.4
13.00
12.94
%
—
9
50
141
1235
1.18
0.93
4.2
3.8
59.24
88.06
e6/l
0.18
113
936
420
3999
1.17
0.92
14.5
10.9
3.93
3.92
mmol/l
0.36
409
3850
6
28
2.14
0.91
1.2
1.1
—
—
—
0
0
40
305
1.33
0.90
1.2
1.2
4.51
7.19
u/ml
1.09
26
230
294
2730
1.15
0.90
3.7
3.8
36.89
37.10
mmol/mol
0.14
279
2580
11
63
1.75
0.89
3.5
6.0
—
—
—
0
0
119
1032
1.19
0.89
1.8
1.6
94.69
100.04
pmol/l
0.55
66
536
69
568
1.24
0.87
7.4
5.7
31.50
30.59
s
0.50
69
555
8
43
1.86
0.87
1.4
1.3
—
—
—
0
0
63
515
1.24
0.85
10.0
8.0
—
—
—
0
0
322
3017
1.14
0.84
3.0
2.8
1.14
1.17
mmol/l
0.38
305
2839
39
300
1.31
0.84
1.2
1.2
0.31
1.12
u/ml
1.49
23
209
43
336
1.30
0.83
1.2
1.3
1.84
1.81
u/ml
0.01
30
208
107
928
1.18
0.80
4.2
3.2
1.01
1.02
kg/l
0.49
15
146
13
81
1.61
0.80
4.5
3.9
527.50
283.77
e6/l
—
8
53
418
3995
1.16
0.80
14.5
11.0
139.51
139.47
mmol/l
0.14
407
3868
0
25
0.00
0.79
0.0
1.6
—
0.90
—
0
19
6
33
1.82
0.78
1.0
1.0
—
—
—
0
0
6
33
1.82
0.78
1.0
1.1
—
—
—
0
0
29
216
1.35
0.78
2.6
2.1
—
—
—
0
0
93
799
1.19
0.78
1.6
1.8
1.29
1.36
mmol/l
0.33
85
715
73
614
1.21
0.77
3.2
3.6
319.58
2689.88
umol/l
1.34
65
549
26
191
1.37
0.76
1.2
1.1
4.81
6.36
u/ml
0.30
19
110
5
24
2.08
0.74
2.6
8.4
—
—
—
0
0
39
485
0.78
0.73
1.6
1.5
—
—
—
0
0
172
1559
1.14
0.72
3.7
3.1
—
—
—
0
0
26
193
1.36
0.72
1.1
1.4
—
—
—
0
0
393
3752
1.14
0.72
4.6
4.0
1.90
1.88
mu/l
0.12
373
3519
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
116
1025
1.16
0.70
3.1
2.7
2.38
2.38
mmol/l
0.14
106
915
96
836
1.17
0.70
3.9
2.7
104.80
110.40
ug/g
0.10
80
653
7
41
1.71
0.69
1.1
3.2
27.29
25.32
umol/l
—
7
41
80
687
1.18
0.69
3.6
3.3
3.48
2.79
e6/l
0.17
45
392
50
410
1.23
0.68
2.5
2.2
2.41
2.42
mmol/l
0.01
41
348
7
119
0.58
0.68
2.0
2.5
0.45
0.56
nmol/l
—
7
100
13
85
1.53
0.68
2.2
2.5
—
—
—
0
0
55
647
0.83
0.64
2.4
1.9
—
—
—
0
0
524
5124
1.24
0.63
19.2
14.9
87.64
87.66
fl
0.04
516
5060
13
87
1.50
0.62
2.9
1.7
—
—
—
0
0
233
2170
1.12
0.62
3.9
2.9
64.20
63.00
ug/l
0.06
226
2036
8
49
1.63
0.62
3.0
5.5
—
—
—
0
0
524
5126
1.24
0.61
19.2
14.8
29.46
29.45
pg
0.04
516
5063
524
5126
1.24
0.61
19.3
14.9
4.65
4.62
e12/l
0.78
498
4931
5
30
1.66
0.61
1.0
2.3
—
—
—
0
0
62
527
1.19
0.61
1.3
1.4
305.45
440.89
titre
0.52
11
90
38
307
1.25
0.60
1.7
2.0
7.42
6.34
u/l
0.33
29
220
65
556
1.18
0.60
1.2
1.2
17.13
21.37
iu/ml
0.32
20
141
19
139
1.37
0.59
1.2
1.1
—
—
—
0
0
0
22
0.00
0.59
0.0
1.2
—
—
—
0
0
210
1950
1.11
0.59
5.1
4.5
0.00
0.00
estimate
0.00
33
409
524
5129
1.23
0.59
19.3
14.9
6.85
6.81
e9/l
0.13
500
4934
523
5119
1.22
0.58
19.3
15.0
263.67
263.20
e9/l
0.06
498
4933
10
64
1.56
0.58
2.2
1.8
0.36
1.52
ug/l
—
10
57
10
64
1.56
0.58
2.0
2.2
—
—
—
0
0
334
3181
1.11
0.57
3.2
3.0
1.42
1.42
mmol/l
0.06
312
2991
524
5131
1.22
0.57
19.4
15.1
136.30
135.64
g/l
0.53
516
5067
338
3222
1.11
0.57
3.3
3.1
2.69
2.71
mmol/l
0.21
312
3016
48
564
0.83
0.56
4.1
4.5
6.59
15.03
mg/mmol
1.02
36
390
27
211
1.29
0.56
1.6
1.5
—
—
—
0
0
24
185
1.30
0.55
2.8
3.8
1.23
1.23
mmol/l
0.05
24
165
24
185
1.30
0.55
1.5
1.6
—
—
—
0
0
17
124
1.37
0.55
1.7
1.7
—
—
—
0
0
43
357
1.21
0.55
2.1
2.0
11.26
11.99
nmol/l
0.16
36
311
6
38
1.58
0.54
1.2
1.1
—
—
—
0
0
9
61
1.48
0.53
5.4
4.1
3.64
3.85
mmol/l
—
9
54
125
1133
1.13
0.53
1.6
1.7
—
—
—
0
0
35
285
1.24
0.53
17.5
17.7
1.19
1.09
mg/l
0.52
35
277
28
222
1.27
0.53
5.2
3.8
—
—
—
0
0
39
323
1.22
0.51
1.6
2.0
1.02
1.14
g/l
0.48
39
302
6
40
1.50
0.51
47.8
44.4
7.68
6.82
ug/l
—
6
34
20
152
1.32
0.51
3.7
3.7
446.70
436.86
mg/l
0.03
20
147
12
83
1.45
0.51
1.0
1.1
—
—
—
0
0
19
144
1.32
0.49
3.9
3.8
3.07
6.58
e6/l
0.96
14
106
18
136
1.33
0.48
4.1
4.0
—
—
—
0
0
18
136
1.33
0.48
3.0
2.4
—
—
—
0
0
13
93
1.40
0.47
1.8
3.7
3.57
3.44
e9/l
0.12
13
93
7
48
1.46
0.46
1.7
1.6
—
—
—
0
0
7
48
1.46
0.46
1.1
2.4
92.31
91.20
%
—
7
48
7
48
1.46
0.46
2.3
1.2
—
—
—
0
0
18
137
1.32
0.46
4.0
3.9
3.27
3.43
mmol/l
0.91
18
129
61
534
1.15
0.45
1.2
1.2
1.46
6.22
u/ml
3.01
14
200
236
2231
1.09
0.44
9.6
9.6
0.00
0.01
e9/l
0.45
181
1735
43
497
0.85
0.44
1.2
1.2
—
—
—
0
0
14
103
1.36
0.44
1.4
1.6
0.36
0.38
nmol/l
0.05
14
87
174
1623
1.10
0.44
1.7
1.6
5.16
2.99
u/ml
0.38
40
333
209
1966
1.09
0.44
3.9
3.3
0.00
0.00
estimate
0.00
30
395
58
654
0.87
0.44
2.3
2.0
—
—
—
0
0
13
95
1.37
0.43
2.5
3.9
47.92
51.31
%
0.54
13
95
44
377
1.17
0.42
1.6
1.3
—
—
—
0
0
26
314
0.82
0.42
1.3
1.2
—
—
—
0
0
58
652
0.87
0.42
2.3
2.0
—
—
—
0
0
18
227
0.78
0.42
1.7
1.5
—
—
—
0
0
8
58
1.38
0.41
1.0
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
3.6
—
10.46
—
0
10
24
194
1.24
0.41
1.3
1.2
—
—
—
0
0
21
167
1.26
0.41
1.1
1.1
0.18
0.47
u/ml
0.88
12
72
207
1953
1.09
0.40
3.9
3.2
0.00
0.00
estimate
0.00
31
391
5
34
1.47
0.40
1.8
1.4
—
—
—
0
0
11
79
1.39
0.40
1.1
1.3
—
—
—
0
0
11
79
1.39
0.40
1.0
1.1
—
—
—
0
0
73
655
1.12
0.39
1.1
1.2
—
—
—
0
0
58
647
0.88
0.38
2.3
2.0
—
—
—
0
0
139
1292
1.09
0.38
1.6
1.7
—
—
—
0
0
465
4541
1.11
0.38
16.3
12.1
40.07
40.19
%
0.16
400
3914
55
485
1.14
0.38
2.5
2.5
2317.86
4785.59
u/l
1.15
21
192
5
36
1.38
0.38
1.2
1.3
—
—
—
0
0
140
1485
0.92
0.37
1.6
1.6
1.51
1.82
g/l
2.67
83
792
12
89
1.35
0.37
1.3
1.2
1.22
4.01
u/ml
—
6
27
87
792
1.11
0.36
1.7
1.6
—
—
—
0
0
33
281
1.18
0.35
1.1
1.3
219.28
269.08
miu/ml
0.36
17
142
18
221
0.80
0.35
1.6
1.5
—
—
—
0
0
18
221
0.80
0.35
1.7
1.5
—
—
—
0
0
161
1512
1.08
0.35
4.9
4.3
16.59
65.18
e6/l
3.28
120
990
19
153
1.24
0.34
1.8
1.6
—
—
—
0
0
34
292
1.17
0.33
7.9
4.6
65.62
66.27
e9/l
0.03
20
191
71
643
1.11
0.33
2.8
2.8
—
—
—
0
0
7
54
1.29
0.30
1.4
2.1
2.33
1.83
mmol/l
—
7
54
22
259
0.84
0.30
4.0
4.5
0.14
0.48
%
—
7
58
15
121
1.24
0.27
2.7
3.1
12.68
25.99
mu/l
1.16
15
115
9
117
0.76
0.27
1.0
1.0
—
—
—
0
0
12
94
1.28
0.27
13.8
9.9
—
—
—
0
0
8
66
1.21
0.26
5.3
5.5
1.26
2.36
ug/l
—
8
66
5
73
0.68
0.26
2.0
1.4
—
—
—
0
0
56
608
0.91
0.26
2.3
2.0
—
—
—
0
0
12
148
0.80
0.25
1.6
1.3
—
—
—
0
0
12
95
1.26
0.25
5.8
5.2
—
—
—
0
0
150
1562
0.94
0.25
1.6
1.7
—
—
—
0
0
42
377
1.12
0.24
1.9
1.6
1116.46
1097.60
nmol/l
0.05
35
291
17
142
1.20
0.24
1.0
1.0
9.72
8.74
mu/l
0.43
17
127
5
38
1.31
0.23
1.4
1.7
—
—
—
0
0
5
40
1.25
0.22
1.0
1.1
—
—
—
0
0
5
40
1.25
0.22
1.0
1.1
—
—
—
0
0
5
40
1.25
0.22
1.0
1.0
—
—
—
0
0
5
40
1.25
0.22
1.2
2.2
—
—
—
0
0
0
11
0.00
0.21
0.0
2.5
—
—
—
0
0
0
12
0.00
0.21
0.0
1.8
—
—
—
0
0
50
539
0.92
0.21
3.4
3.8
1369.03
109.81
mg/l
0.48
39
379
6
47
1.27
0.20
1.5
1.2
—
—
—
0
0
6
47
1.27
0.20
2.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
2.4
—
545.00
—
0
9
0
14
0.00
0.20
0.0
2.9
—
416.67
—
0
9
109
1034
1.06
0.19
4.2
3.3
0.00
0.00
estimate
0.50
33
394
18
155
1.16
0.19
2.6
3.3
0.09
0.17
e6/l
0.57
18
148
14
118
1.18
0.18
1.5
1.5
32.56
14.92
u/ml
—
9
81
10
81
1.23
0.18
3.4
3.8
—
—
—
0
0
47
503
0.92
0.17
2.5
2.1
—
—
—
0
0
10
120
0.83
0.17
2.9
1.7
3.40
6.78
iu/l
—
5
40
33
300
1.10
0.16
1.2
1.2
6.65
3.37
u/ml
0.41
15
101
29
262
1.11
0.16
1.2
1.3
—
—
—
0
0
8
72
1.11
0.16
1.4
1.1
—
—
—
0
0
206
2002
1.04
0.14
3.3
2.5
—
—
—
0
0
23
207
1.11
0.14
1.6
1.4
—
—
—
0
0
34
364
0.92
0.13
3.4
3.4
—
—
—
0
0
52
490
1.06
0.12
5.1
4.2
4.91
7.77
umol/l
1.64
43
402
105
1078
0.96
0.11
2.6
2.8
—
—
—
0
0
16
177
0.90
0.11
2.7
2.6
6.48
6.98
umol/l
0.07
11
136
103
1057
0.96
0.11
4.2
3.9
7.28
8.60
mmol/l
1.92
93
950
103
993
1.04
0.11
4.5
4.6
—
—
—
0
0
14
124
1.13
0.10
1.0
1.1
—
—
—
0
0
26
278
0.93
0.10
4.7
5.1
0.80
0.64
%
—
10
84
13
115
1.13
0.10
1.2
1.2
—
—
—
0
0
5
46
1.08
0.09
1.2
1.1
—
—
—
0
0
45
469
0.95
0.09
1.4
1.5
—
—
—
0
0
6
56
1.07
0.08
22.0
9.6
14.87
9.53
mg/l
—
6
51
12
133
0.90
0.08
1.3
1.2
—
—
—
0
0
38
397
0.95
0.08
2.3
2.0
—
—
—
0
0
6
71
0.84
0.07
2.7
7.2
—
—
—
0
0
9
84
1.07
0.07
1.2
1.9
—
—
—
0
0
30
284
1.05
0.06
2.9
2.6
—
—
—
0
0
12
110
1.09
0.04
1.2
1.4
—
—
—
0
0
43
439
0.97
0.03
2.7
2.7
—
—
—
0
0
26
266
0.97
0.01
4.3
5.2
0.10
0.04
%
—
10
76
19
196
0.96
0.01
8.7
6.6
0.30
0.31
g/l
0.02
13
133
117
1171
0.99
0.01
2.0
1.9
—
—
—
0
0
19
195
0.97
0.00
3.2
2.3
0.71
0.72
ug/l
0.03
11
111
25
248
1.00
0.00
2.0
2.3
3.39
4.08
e9/l
1.59
20
223
26
258
1.00
0.00
4.5
5.2
0.00
0.02
%
—
10
65
22
224
0.98
0.00
1.1
1.1
—
—
—
0
0
13
124
1.04
0.00
1.2
1.2
—
—
—
0
0
171
1704
1.00
0.00
2.4
2.2
—
—
—
0
0
14
143
0.97
0.00
1.0
1.1
—
—
—
0
0
11
108
1.01
0.00
1.3
1.5
—
—
—
0
0
16
159
1.00
0.00
4.8
2.8
64.46
65.48
g/l
0.19
16
148
14
142
0.98
0.00
1.0
1.1
—
—
—
0
0
23
229
1.00
0.00
1.5
1.7
78.11
184.27
u/ml
—
9
119
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
5.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
21.02
—
0
5
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
6
62
0.96
0.00
4.8
8.2
148.45
82.42
g/mol
—
6
56
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
5
55
0.90
0.00
1.4
3.4
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
53
0.94
0.00
1.4
1.2
—
391.25
—
0
8
0
5
0.00
0.00
0.0
2.8
—
6.66
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
88.68
—
0
6
0
7
0.00
0.00
0.0
2.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
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
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

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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