Myotonic disorders

G6_MYOTDIS

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 G71.1
  • Hospital discharge: ICD-9 3592A
  • Hospital discharge: ICD-8 33020
  • Cause of death: ICD-10 G71.1
  • Cause of death: ICD-9 3592A
  • Cause of death: ICD-8 33020

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

294

4. Check minimum number of events

None

294

5. Include endpoints

None

294

6. Filter based on genotype QC (FinnGen only)

294

Control definitions (FinnGen only)

Control exclude
G6_MYONEU

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
G71
Name in latin
Morbositates myotonicae

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 2311 1166 1126
Only index persons 1965 1019 946
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 44.33 44.69 43.83
Only index persons 43.13 43.84 42.36

-FinnGen-

Key figures

All Female Male
Number of individuals 294 171 123
Unadjusted period prevalence (%) 0.06 0.06 0.05
Median age at first event (years) 47.19 47.08 47.34

-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
259
Matched controls
2590
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.18
ICD-10 Finland
Other myotonic disease
+∞
130.6
114
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
119.2
105
*
G71.12
ICD-10 Finland
Myotonia congenita
+∞
93.5
84
*
Z31.5
ICD-10 Finland
Genetic counselling
20.0
57.3
90
67
G72.9
ICD-10 Finland
Myopathy, unspecified
452.6
40.2
39
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
27.6
26
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
26.5
25
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
24.4
23
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.4
20.0
56
107
L28
ICPC
Limited function/disability (L)
4.7
16.9
62
161
R1250
NOMESCO Finland
Evaluation of functional capability
12.9
16.5
29
25
N99
ICPC
Neurological disease other
26.5
16.3
22
9
G71.1
ICD-10 Finland
Myotonic disorders
+∞
15.8
15
*
J96.1
ICD-10 Finland
Chronic respiratory failure
30.8
15.4
20
7
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
14.7
14
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
+∞
14.7
14
*
N03AF01
ATC
carbamazepine; oral, rectal
7.9
13.5
31
44
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.5
13.2
71
255
H26.02
ICD-10 Finland
Presenil cataract
11.4
13.1
24
23
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
6.1
11.8
32
58
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.2
11.6
70
271
C01BB02
ATC
mexiletine; systemic
62.6
10.7
12
*
3592A
ICD-9 Finland
Muscular dystrophies and other myopathies, Myotonic disorders
+∞
10.5
10
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
10.5
10
*
XF404
NOMESCO Finland
Ambulatory ECG
4.3
10.3
39
103
N03AE01
ATC
clonazepam; systemic
5.0
9.8
31
68
SPAT1215
SPAT
Assessment of need for medical rehabilitation
5.4
9.5
28
57
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
9.4
9
*
L19
ICPC
Muscle symptom/complaint NOS
12.1
9.2
16
14
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.5
8.8
85
428
SPAT1229
SPAT
Assessment of need for aid
5.3
8.8
26
53
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.2
8.7
33
87
XA800
NOMESCO Finland
Neuropsychological investigation
5.2
8.7
26
54
RF410
NOMESCO Finland
NA
11.3
8.4
15
14
RF420
NOMESCO Finland
NA
9.9
8.4
16
17
N29
ICPC
Neurological sympt/complt other
9.9
8.4
16
17
L99
ICPC
Musculoskeletal disease other
10.5
8.1
15
15
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.9
8.1
52
205
N03AX16
ATC
pregabalin; oral
2.5
8.0
70
330
N03AX12
ATC
gabapentin; oral
2.9
7.9
51
203
R42
ICD-10 Finland
Dizziness and giddiness
2.6
7.7
59
260
N28
ICPC
Limited function/disability (N)
13.9
7.5
12
9
Z96.1
ICD-10 Finland
Presence of intraocular lens
3.9
7.4
30
85
G71.10
ICD-10 Finland
Myotonia drug-induced
+∞
7.3
7
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
7.3
7
*
Z82.6
ICD-10 Finland
Family history of arthritis and other diseases of the musculoskeletal system and connective tissue
+∞
7.3
7
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
7.3
7
*
R5140
NOMESCO Finland
Monitoring the use of the aid
3.3
7.2
36
121
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
12.5
7.2
12
10
G47.3
ICD-10 Finland
Sleep apnoea
2.5
7.1
61
286
RF210
NOMESCO Finland
NA
6.2
7.1
18
31
H26.4
ICD-10 Finland
After-cataract
4.1
7.0
26
68
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
2.2
6.8
79
428
R06.0
ICD-10 Finland
Dyspnoea
2.4
6.7
63
309
NXL00
NOMESCO Finland
Biopsy of muscle
71.5
6.5
7
*
M03BX01
ATC
baclofen; systemic
9.6
6.4
12
13
X59
ICD-10 Finland
Exposure to unspecified factor
2.4
6.3
58
279
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
4.5
6.3
21
50
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
5.6
6.3
17
32
G71.14
ICD-10 Finland
Paramyotonia congenita
+∞
6.3
6
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
6.3
6
*
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
+∞
6.3
6
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
8.0
6.2
13
17
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
5.8
6.1
16
29

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
162
655
4.28
33.93
3.3
2.0
489.2
197.3
u/l
0.70
154
620
171
1049
2.51
13.26
6.8
6.7
1.2
1.2
mmol/l
0.08
148
889
40
137
3.22
9.51
1.8
3.3
132.9
118.9
ng/l
0.11
33
123
151
968
2.15
9.45
6.5
5.9
1.2
1.2
mmol/l
0.04
143
886
165
1106
2.12
9.06
5.2
6.5
8.7
8.5
%
0.34
157
1060
70
334
2.44
8.87
1.4
1.4
1407.3
548.4
titre
0.97
11
69
168
1147
2.08
8.63
5.1
6.3
29.4
29.1
%
0.13
158
1096
171
1183
2.06
8.38
5.0
6.1
0.6
0.6
e9/l
0.03
144
1044
175
1223
2.06
8.32
5.8
6.5
0.2
0.2
e9/l
0.46
154
1100
161
1097
2.03
8.15
5.1
6.3
3.1
2.8
%
0.73
153
1040
157
1062
2.03
8.09
5.1
6.3
0.7
0.7
%
0.18
148
1009
170
1185
2.03
8.03
5.0
6.1
0.0
0.0
e9/l
0.17
143
1047
173
1228
1.99
7.60
5.0
6.1
1.9
2.0
e9/l
0.38
151
1107
48
208
2.56
7.39
9.0
8.5
1.9
1.4
mmol/l
0.29
39
165
50
222
2.51
7.32
1.7
2.0
344.2
364.3
nmol/l
0.35
43
206
105
634
2.02
7.27
3.9
4.1
7.4
7.4
ph
0.42
21
123
140
939
1.94
7.11
5.0
4.6
35.4
36.4
g/l
1.09
128
884
75
402
2.16
7.11
3.7
3.5
226.2
247.9
ng/l
0.06
52
275
161
1132
1.93
7.09
5.0
6.2
54.3
56.3
%
1.23
152
1083
118
749
1.96
7.04
4.1
6.3
—
—
—
0
0
125
820
1.91
6.68
1.7
1.8
96.1
96.8
pmol/l
0.06
67
409
227
1816
2.10
6.63
7.2
7.2
84.4
76.1
u/l
1.44
216
1710
40
167
2.61
6.63
4.8
4.5
0.0
0.0
%
—
8
36
31
115
2.90
6.41
7.5
4.5
—
—
—
0
0
149
1053
1.84
6.16
8.8
9.1
0.0
0.0
e9/l
0.35
118
873
178
1330
1.86
6.14
5.7
4.4
6.4
6.5
mmol/l
0.49
167
1234
183
1384
1.85
6.02
6.5
9.7
4.0
3.9
e9/l
0.08
158
1222
40
176
2.47
5.95
4.7
4.2
0.4
0.5
%
—
7
33
40
179
2.43
5.73
4.8
4.4
0.0
0.2
%
—
7
45
57
297
2.14
5.72
2.4
2.2
22.6
24.7
%
0.75
51
257
84
512
1.90
5.43
2.2
1.9
3.1
3.1
mg/l
0.01
75
447
94
597
1.84
5.33
2.4
2.6
—
—
—
0
0
93
593
1.83
5.19
3.0
2.6
—
—
—
0
0
51
269
2.08
4.94
1.6
1.6
—
—
—
0
0
216
1775
1.82
4.84
4.7
3.8
11.7
9.7
mm/h
1.21
207
1640
99
656
1.77
4.80
3.2
2.7
18.6
152.8
e6/l
0.76
72
505
91
589
1.79
4.78
4.5
7.4
—
—
—
0
0
40
194
2.23
4.77
4.8
4.2
0.6
0.9
%
—
7
53
15
43
3.62
4.68
2.5
2.4
—
—
—
0
0
28
118
2.52
4.56
1.6
2.7
—
—
—
0
0
31
138
2.39
4.50
3.4
3.3
7.4
7.4
ph
—
5
17
221
1846
1.79
4.48
4.5
3.9
14.7
14.5
pmol/l
0.26
210
1691
201
1635
1.73
4.47
4.2
3.5
—
—
—
0
0
17
55
3.22
4.43
2.9
2.4
7.4
7.4
ph
1.23
12
46
144
1075
1.67
4.43
2.9
2.7
118.3
120.4
ug/l
0.04
138
1004
31
139
2.38
4.43
3.4
3.3
5.4
5.1
kpa
0.96
31
128
83
534
1.77
4.40
3.8
4.4
—
—
—
0
0
90
598
1.73
4.25
3.0
2.7
0.4
0.4
e6/l
0.06
63
442
74
468
1.78
4.14
1.4
1.5
20.1
21.4
nmol/l
0.39
69
393
252
2215
1.96
4.04
5.5
4.6
1.7
1.9
mu/l
2.52
240
2054
33
160
2.20
3.95
10.7
9.3
—
—
—
0
0
24
101
2.50
3.93
3.3
3.4
—
—
—
0
0
55
327
1.84
3.75
1.3
1.6
—
—
—
0
0
30
143
2.22
3.74
3.9
3.9
65.9
83.2
ng/l
1.11
25
130
25
110
2.39
3.73
14.5
9.5
—
—
—
0
0
12
35
3.53
3.66
2.3
2.4
—
—
—
0
0
35
181
2.06
3.57
5.5
4.5
6.4
5.7
kpa
1.79
35
176
108
783
1.60
3.54
3.7
3.2
38.6
112.9
e6/l
0.84
76
549
11
31
3.65
3.51
1.5
1.3
—
—
—
0
0
56
343
1.78
3.46
1.7
1.6
1227.5
1176.8
nmol/l
0.17
51
255
13
42
3.19
3.41
1.3
1.0
0.2
0.9
u/ml
—
6
18
270
2475
2.11
3.18
15.5
11.9
19.2
21.1
mg/l
0.52
227
1892
63
411
1.68
3.10
3.1
2.4
550.8
564.8
mosm/kgh2o
0.18
56
357
13
45
2.98
3.06
1.3
1.0
10.0
6.1
u/ml
—
6
25
114
861
1.53
3.04
11.0
6.5
1.1
1.1
inr
0.08
40
255
7
13
5.49
2.88
1.7
6.3
—
—
—
0
0
154
1254
1.48
2.78
6.2
6.1
12.6
10.8
umol/l
0.69
144
1193
13
48
2.79
2.75
1.4
1.1
0.2
2.4
u/ml
—
5
18
64
433
1.61
2.72
1.4
1.7
—
—
—
0
0
6
10
6.10
2.71
1.0
1.0
—
—
—
0
0
15
326
0.43
2.69
1.1
1.3
—
—
—
0
0
143
1159
1.46
2.58
3.2
3.2
0.0
0.0
estimate
0.50
28
222
189
1617
1.47
2.56
4.1
3.9
—
—
—
0
0
72
512
1.54
2.47
1.4
1.9
1.2
1.0
mg/l
0.16
53
397
44
280
1.67
2.37
4.4
2.3
5.6
8.1
umol/l
0.89
35
241
33
194
1.79
2.35
1.2
1.6
—
—
—
0
0
140
1147
1.42
2.31
4.3
4.4
0.0
0.0
estimate
0.00
31
231
8
23
3.55
2.28
1.0
1.4
—
—
nmol/l
—
0
0
7
18
3.96
2.26
1.3
1.3
—
—
—
0
0
8
24
3.40
2.19
3.0
2.5
—
—
—
0
0
13
55
2.43
2.15
2.8
2.3
23.3
24.4
mmol/l
0.33
13
46
277
2616
2.02
2.14
18.2
13.6
68.9
74.0
umol/l
2.17
277
2616
78
580
1.47
2.14
4.6
4.8
—
—
—
0
0
59
414
1.53
2.14
2.1
1.7
128000437.0
456.3
pmol/l
0.49
50
352
11
43
2.62
2.12
1.5
2.6
—
—
—
0
0
138
1142
1.39
2.09
3.3
3.2
0.0
0.0
estimate
0.00
30
225
62
444
1.50
2.04
3.0
2.2
6.9
5.2
e6/l
0.34
57
395
10
38
2.69
2.03
1.8
3.6
3.6
4.4
e9/l
—
10
38
8
26
3.13
2.03
1.0
1.4
—
—
—
0
0
11
45
2.50
1.95
2.5
4.5
—
—
—
0
0
10
39
2.62
1.94
2.0
4.2
54.0
55.8
%
—
10
39
94
737
1.40
1.92
2.4
3.4
2.4
2.4
mmol/l
0.27
85
649
93
730
1.40
1.89
2.9
2.5
53.6
54.9
u/l
0.21
85
683
9
34
2.70
1.88
1.0
1.8
—
—
—
0
0
11
46
2.45
1.87
1.2
1.1
—
—
—
0
0
42
283
1.56
1.82
1.1
1.2
—
—
—
0
0
18
95
1.95
1.79
1.9
1.4
8.6
9.4
u/l
0.12
18
76
75
572
1.42
1.78
3.1
3.2
1695.9
434.2
mg/l
0.52
50
360
10
41
2.49
1.77
2.0
1.7
—
—
—
0
0
37
244
1.59
1.76
1.6
1.3
—
—
—
0
0
46
320
1.52
1.74
1.9
2.0
—
—
—
0
0
17
89
1.97
1.74
4.0
3.8
24.5
24.8
mmol/l
0.17
17
84
11
48
2.34
1.72
1.2
1.2
—
—
—
0
0
14
69
2.08
1.67
14.1
5.8
1.1
1.1
mmol/l
0.13
14
61
79
615
1.39
1.66
4.5
3.4
—
—
—
0
0
272
2582
1.71
1.65
15.4
11.1
—
—
—
0
0
8
32
2.54
1.61
1.5
1.5
—
—
—
0
0
7
26
2.73
1.59
2.0
1.2
—
—
—
0
0
239
2214
1.42
1.57
6.0
5.0
38.9
39.0
mmol/mol
0.03
227
2086
250
2338
1.46
1.53
4.6
4.1
5.9
5.8
mmol/l
0.21
238
2174
5
15
3.37
1.53
1.0
1.1
—
—
—
0
0
5
15
3.37
1.53
1.0
1.2
—
—
—
0
0
85
679
1.35
1.52
2.8
2.7
—
—
—
0
0
13
65
2.05
1.51
3.5
4.3
—
—
—
0
0
108
904
1.31
1.39
2.8
3.0
—
—
—
0
0
5
17
2.97
1.36
1.0
1.1
—
—
—
0
0
81
654
1.33
1.34
3.1
3.0
7.0
7.9
mmol/l
0.91
63
544
24
153
1.62
1.33
2.0
3.0
72.1
72.1
e9/l
0.00
18
111
100
833
1.30
1.32
4.4
3.2
61.3
38.3
ng/l
0.44
79
499
8
38
2.14
1.19
1.1
1.0
—
—
—
0
0
8
38
2.14
1.19
1.3
4.1
—
—
—
0
0
18
111
1.66
1.15
2.2
2.3
—
—
—
0
0
74
603
1.30
1.14
4.4
4.0
19.2
10.4
mg/mmol
0.40
47
369
72
585
1.31
1.13
1.3
1.3
3.5
1.8
u/ml
0.23
17
174
66
530
1.32
1.13
1.5
1.4
1.8
2.3
g/l
3.99
41
339
65
521
1.32
1.13
3.4
3.4
1.0
1.0
kg/l
—
7
66
8
40
2.03
1.13
1.1
1.1
—
—
—
0
0
49
379
1.35
1.08
2.3
2.7
2.5
2.4
mmol/l
0.84
41
322
43
327
1.37
1.05
1.4
1.2
—
—
—
0
0
22
147
1.54
1.04
1.3
1.2
—
—
—
0
0
37
275
1.40
1.04
1.4
1.4
—
—
—
0
0
7
34
2.08
1.03
1.3
3.6
60.9
66.5
%
—
7
34
12
68
1.80
1.02
2.0
2.6
—
—
—
0
0
14
84
1.70
0.99
1.1
1.2
—
—
—
0
0
38
290
1.36
0.92
1.2
1.3
—
—
—
0
0
60
723
0.79
0.90
1.3
1.5
—
—
—
0
0
22
307
0.69
0.87
1.1
1.4
—
—
—
0
0
11
64
1.75
0.87
1.7
2.6
—
—
—
0
0
61
503
1.27
0.86
3.3
3.3
—
—
—
0
0
84
963
0.82
0.79
3.3
2.6
—
—
—
0
0
76
650
1.23
0.79
1.8
1.7
1.5
1.4
mmol/l
0.42
62
562
53
438
1.26
0.74
1.3
1.3
17.3
30.5
iu/ml
1.29
19
147
15
100
1.53
0.74
1.1
1.5
363.8
258.5
miu/ml
—
5
56
27
203
1.36
0.74
1.3
1.4
—
—
—
0
0
28
212
1.35
0.73
1.3
1.2
—
—
—
0
0
69
589
1.22
0.73
2.8
2.6
325.4
5677.2
umol/l
2.19
58
514
22
160
1.41
0.72
1.5
1.4
—
—
—
0
0
107
956
1.19
0.70
2.0
2.0
—
—
—
0
0
210
2204
0.83
0.68
21.5
15.2
331.7
333.5
g/l
1.77
210
2194
24
180
1.36
0.67
3.0
2.4
2.9
4.0
e9/l
2.08
18
155
63
540
1.21
0.64
1.9
1.9
—
—
—
0
0
41
335
1.26
0.64
1.7
2.3
112.0
109.4
ug/g
0.03
31
266
5
30
1.68
0.61
2.0
2.7
—
—
—
0
0
21
276
0.74
0.61
1.7
1.8
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
16
114
1.43
0.60
3.3
2.1
0.1
0.1
e6/l
0.22
16
108
10
150
0.65
0.60
1.3
1.7
—
—
—
0
0
15
106
1.44
0.59
1.6
1.4
270.5
314.7
mu/l
0.43
15
96
8
53
1.52
0.59
1.1
1.5
—
—
—
0
0
14
99
1.43
0.55
1.1
1.1
—
—
—
0
0
71
626
1.18
0.54
4.4
4.0
1.5
1.8
ug/l
0.42
65
563
51
437
1.20
0.53
1.3
1.3
16.6
10.4
u/ml
0.20
20
188
6
39
1.55
0.53
2.5
3.3
7.3
7.7
mmol/l
—
6
39
10
66
1.53
0.53
1.0
1.1
—
—
—
0
0
81
725
1.16
0.51
2.3
2.2
—
—
—
0
0
14
102
1.39
0.48
1.2
1.0
—
—
—
0
0
69
615
1.16
0.46
3.5
3.4
0.0
0.0
estimate
0.50
29
226
18
139
1.31
0.45
2.9
2.4
—
—
—
0
0
8
57
1.41
0.42
1.1
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
0
15
0.00
0.41
0.0
2.4
—
53.2
—
0
5
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.41
0.0
1.4
—
—
—
0
0
5
36
1.40
0.38
1.0
1.1
—
—
—
0
0
15
191
0.77
0.38
1.4
1.4
—
—
—
0
0
9
69
1.31
0.37
1.7
1.2
—
—
—
0
0
6
42
1.44
0.35
2.5
3.1
1.6
1.3
mmol/l
—
6
42
6
43
1.40
0.35
3.2
1.7
—
—
—
0
0
6
43
1.40
0.35
2.3
2.4
3.3
7.1
u/ml
—
6
38
229
2347
0.89
0.32
4.5
3.7
1.4
1.3
mmol/l
2.08
212
2182
12
92
1.32
0.32
3.4
2.9
—
—
—
0
0
237
2424
0.89
0.32
4.9
4.1
1.5
1.5
mmol/l
1.03
223
2264
268
2638
1.18
0.30
11.6
9.6
33.2
27.8
u/l
4.13
263
2559
116
1100
1.09
0.27
3.7
3.9
—
—
—
0
0
25
288
0.86
0.27
1.6
1.7
—
—
—
0
0
23
197
1.18
0.26
4.3
4.1
—
—
—
0
0
10
126
0.79
0.24
1.1
1.7
—
—
—
0
0
6
81
0.74
0.24
24.2
9.3
—
—
—
0
0
231
2356
0.91
0.24
19.7
12.8
40.1
40.6
%
0.40
179
1857
6
83
0.72
0.24
1.3
2.2
—
—
—
0
0
20
173
1.17
0.21
1.1
1.3
—
25.0
—
0
13
0
11
0.00
0.21
0.0
4.2
—
7.5
—
0
11
0
11
0.00
0.21
0.0
2.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
8
103
0.77
0.21
1.1
1.6
—
—
—
0
0
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
19
165
1.16
0.19
1.1
1.2
—
—
—
0
0
6
51
1.18
0.19
3.3
3.5
—
—
—
0
0
10
122
0.81
0.19
1.0
1.1
—
—
—
0
0
10
120
0.83
0.17
1.1
1.7
—
—
—
0
0
7
86
0.81
0.15
1.7
1.6
—
—
—
0
0
11
127
0.86
0.12
1.1
1.7
—
—
—
0
0
11
127
0.86
0.12
1.1
1.7
—
—
—
0
0
11
127
0.86
0.12
1.1
1.6
—
—
—
0
0
5
64
0.78
0.08
1.4
1.3
—
—
—
0
0
241
2430
0.95
0.08
4.9
4.1
4.9
4.8
mmol/l
0.74
229
2285
15
137
1.10
0.07
1.1
1.1
—
—
—
0
0
38
366
1.04
0.05
2.6
2.6
0.5
0.7
ug/l
1.92
25
219
19
201
0.94
0.04
1.3
1.2
116.4
149.1
iu/ml
—
6
89
248
2468
1.03
0.04
5.2
4.5
2.8
2.9
mmol/l
0.26
233
2299
21
220
0.95
0.03
3.0
4.4
8.8
59.0
ug/l
0.75
15
179
10
92
1.09
0.03
2.4
1.5
—
—
—
0
0
17
164
1.04
0.00
3.1
3.3
—
—
—
0
0
20
198
1.01
0.00
2.2
2.4
—
20.6
—
0
10
20
201
0.99
0.00
3.1
3.0
—
—
—
0
0
6
59
1.02
0.00
1.7
1.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
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
58
0.86
0.00
1.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
6.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.0
—
16.3
—
0
5
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
2.6
—
—
—
0
0
9
95
0.95
0.00
1.2
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
4.0
—
48.1
—
0
6
0
8
0.00
0.00
0.0
1.1
—
—
—
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
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint G6_MYOTDIS and mortality.

Females

Parameter HR [95% CI] p-value
G6_MYOTDIS 3.443 [2.74, 4.32] < 0.001
Birth year 0.991 [0.98, 1.0] 0.048

During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 957 females with G6_MYOTDIS died.

Males

Parameter HR [95% CI] p-value
G6_MYOTDIS 3.471 [2.87, 4.19] < 0.001
Birth year 0.99 [0.98, 1.0] 0.069

During the follow-up period (1.1.1998 — 31.12.2019), 219 out of 898 males with G6_MYOTDIS died.

Mortality risk

Mortality risk for people of age

years, who have G6_MYOTDIS.

N-year risk Females Males
1 0.244% 0.863%
5 1.687% 4.271%
10 4.616% 10.427%
15 8.129% 20.038%
20 13.812% 32.6%

Relationships between endpoints

Index endpoint: G6_MYOTDIS – Myotonic disorders

GWS hits: 27

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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