Myotonic disorders

G6_MYOTDIS

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 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.

303

4. Check minimum number of events

None

303

5. Include endpoints

None

303

6. Filter based on genotype QC (FinnGen only)

289

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 289 169 120
Unadjusted period prevalence (%) 0.06 0.06 0.05
Median age at first event (years) 48.21 48.25 48.16

-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
303
Matched controls
3030
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.18
ICD-10 Finland
Other myotonic disease
+∞
144.7
127
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
134.7
119
*
Z31.5
ICD-10 Finland
Genetic counselling
19.8
130.4
120
97
G71.12
ICD-10 Finland
Myotonia congenita
+∞
118.8
106
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
49.3
46
*
R1250
NOMESCO Finland
Evaluation of functional capability
13.4
39.3
39
33
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.7
37.5
69
128
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
32.9
31
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
29.7
28
*
G71.1
ICD-10 Finland
Myotonic disorders
+∞
27.5
26
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
27.5
26
*
L28
ICPC
Limited function/disability (L)
4.5
27.1
80
222
SPAT1215
SPAT
Assessment of need for medical rehabilitation
7.8
22.1
32
45
XF404
NOMESCO Finland
Ambulatory ECG
4.7
19.5
50
122
H26.02
ICD-10 Finland
Presenil cataract
9.0
19.5
25
30
N99
ICPC
Neurological disease other
30.1
19.0
25
9
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.4
18.3
39
81
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
17.9
17
*
N03AF01
ATC
carbamazepine; oral, rectal
5.4
17.6
37
76
C01BB02
ATC
mexiletine; systemic
179.5
16.7
17
*
N03AE01
ATC
clonazepam; systemic
5.1
16.4
37
81
N03AX09
ATC
lamotrigine; oral
4.7
14.7
36
84
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
157.3
14.6
15
*
SPAT1229
SPAT
Assessment of need for aid
4.7
13.0
32
75
H26.4
ICD-10 Finland
After-cataract
4.3
12.8
35
89
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.9
12.8
40
113
J96.1
ICD-10 Finland
Chronic respiratory failure
14.0
12.6
21
16
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.9
12.6
68
271
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
3.1
12.0
57
211
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
11.5
11
*
3592A
ICD-9 Finland
Muscular dystrophies and other myopathies, Myotonic disorders
+∞
11.5
11
*
XA800
NOMESCO Finland
Neuropsychological investigation
4.3
11.5
31
78
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.6
11.5
87
411
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.4
11.0
101
520
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
4.9
10.9
25
55
Z3226
NOMESCO Finland
Physiotherapist
2.7
10.9
73
324
RF410, ,
NOMESCO Finland
22.4
10.8
15
7
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
10.5
10
*
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
10.5
10
*
RF420, ,
NOMESCO Finland
16.8
10.5
16
10
N29
ICPC
Neurological sympt/complt other
10.6
10.2
19
19
R42
ICD-10 Finland
Dizziness and giddiness
2.6
10.1
72
328
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.5
10.1
37
116
RF210, ,
NOMESCO Finland
5.4
9.5
19
37
G71.14
ICD-10 Finland
Paramyotonia congenita
+∞
9.4
9
*
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
4.9
9.0
20
43
N03AX12
ATC
[U] gabapentin; oral
2.5
8.9
65
299
N28
ICPC
Limited function/disability (N)
12.1
8.7
15
13
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.3
8.6
78
395
L99
ICPC
Musculoskeletal disease other
7.9
8.3
18
24
N03AX16
ATC
[U] pregabalin
2.2
8.2
83
439
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.7
7.8
45
184
G72.8
ICD-10 Finland
Other specified myopathies
46.2
7.8
9
*
M79.1
ICD-10 Finland
Myalgia
2.4
7.7
59
276
A28
ICPC
Limited function/disability NOS
2.7
7.6
43
174
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
2.1
7.5
88
492
RF120, ,
NOMESCO Finland
13.8
7.4
12
9
R4120
NOMESCO Finland
Occupational therapy
3.1
7.4
31
106
G71.10
ICD-10 Finland
Myotonia drug-induced
+∞
7.3
7
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
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
*
Z3231
NOMESCO Finland
Registered nurse
2.1
7.3
93
535
R4110
NOMESCO Finland
Physiotherapy
2.1
7.2
92
529
M03BX01
ATC
baclofen; systemic
6.9
7.2
17
26
G47.3
ICD-10 Finland
Sleep apnoea
2.1
7.2
82
452
L19
ICPC
Muscle symptom/complaint NOS
5.9
7.2
19
34
R06.0
ICD-10 Finland
Dyspnoea
2.1
6.7
83
470
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.6
6.7
39
160
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
7.1
6.6
15
22
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
71.3
6.4
7
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
6.2
6.4
16
27
N06AX21
ATC
duloxetine; oral
2.4
6.3
48
224
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
6.3
6
*
TNX05
NOMESCO Finland
Simple incision of soft tissue, unspecified region
+∞
6.3
6
*
N06AB04
ATC
citalopram; systemic
2.1
6.2
72
398
ZY020
NOMESCO Finland
Telephone, letter or other consultation without direct patient contact
3.0
6.1
27
95
R02
ICPC
Shortness of breath/dyspnoea
2.5
6.1
41
180
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
4.0
6.1
17
44
R03AC02
ATC
salbutamol; inhalant
1.8
6.0
177
1320
S06.0
ICD-10 Finland
Concussion
2.4
6.0
42
188

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
170
672
4.49
37.29
3.3
2.0
488.31
175.68
u/l
0.83
162
635
176
1081
2.50
13.57
6.7
6.5
1.22
1.21
mmol/l
0.09
154
919
75
348
2.54
10.17
1.4
1.4
1407.27
545.21
titre
0.98
11
73
41
141
3.21
9.67
1.8
3.4
130.12
117.29
ng/l
0.11
34
127
171
1141
2.14
9.58
5.2
6.5
8.60
8.51
%
0.12
163
1093
155
997
2.14
9.54
6.4
5.7
1.21
1.22
mmol/l
0.13
149
915
174
1184
2.10
9.07
5.1
6.2
29.30
29.21
%
0.04
166
1138
182
1261
2.11
9.03
5.8
6.4
0.20
0.19
e9/l
0.64
161
1135
177
1221
2.08
8.79
5.0
6.0
0.56
0.56
e9/l
0.00
151
1082
167
1131
2.06
8.69
5.1
6.2
3.14
2.84
%
0.87
159
1080
176
1221
2.05
8.50
5.0
6.1
0.04
0.04
e9/l
0.12
149
1082
53
226
2.63
8.45
1.7
2.0
349.83
363.54
nmol/l
0.23
46
210
162
1093
2.04
8.43
5.0
6.3
0.71
0.70
%
0.01
153
1039
179
1268
2.01
7.94
5.0
6.1
1.92
2.00
e9/l
0.30
158
1150
167
1168
1.96
7.54
5.0
6.1
54.18
56.14
%
1.25
159
1119
131
845
1.97
7.50
1.7
1.8
96.51
96.36
pmol/l
0.01
71
424
144
963
1.94
7.38
4.9
4.5
35.50
36.44
g/l
1.06
133
911
235
1864
2.16
7.30
7.1
7.2
84.00
76.71
u/l
1.19
224
1758
49
216
2.51
7.26
8.9
8.3
1.79
1.41
mmol/l
0.24
41
174
186
1361
1.95
7.23
5.7
4.4
6.38
6.54
mmol/l
0.49
175
1262
77
414
2.15
7.22
3.6
3.6
214.49
236.63
ng/l
0.07
55
286
107
653
1.99
7.11
3.9
3.9
7.39
7.40
ph
0.47
21
127
164
1162
1.90
6.91
5.3
6.6
—
—
—
0
0
41
175
2.55
6.48
4.9
4.4
0.00
0.05
%
—
8
42
189
1422
1.87
6.40
6.5
9.6
3.97
3.91
e9/l
0.11
164
1256
32
121
2.84
6.39
7.5
4.7
—
—
—
0
0
64
339
2.13
6.16
2.4
2.6
2.92
2.23
e6/l
0.25
31
178
153
1087
1.82
6.15
8.8
9.0
0.00
0.00
e9/l
0.35
122
901
41
184
2.42
5.83
4.7
4.2
0.40
0.60
%
—
10
57
87
525
1.92
5.81
2.2
1.9
3.02
3.08
mg/l
0.06
78
458
54
275
2.17
5.72
1.6
1.6
—
—
—
0
0
98
620
1.86
5.63
2.3
2.6
—
—
—
0
0
41
187
2.38
5.63
4.8
4.3
0.00
0.17
%
—
8
54
224
1817
1.89
5.57
4.7
3.8
12.12
9.79
mm/h
1.45
215
1679
58
307
2.10
5.57
2.4
2.2
22.65
24.44
%
0.64
51
265
95
606
1.83
5.27
3.0
2.6
—
—
—
0
0
94
600
1.82
5.19
4.4
7.4
—
—
—
0
0
102
671
1.78
5.08
3.2
2.7
18.24
149.11
e6/l
0.76
74
518
228
1899
1.81
4.73
4.6
3.9
14.62
14.54
pmol/l
0.18
217
1742
29
122
2.52
4.73
1.6
2.6
—
—
—
0
0
260
2260
2.06
4.70
18.5
14.4
14.52
14.57
%
0.05
260
2237
41
202
2.19
4.70
4.8
4.2
0.56
0.91
%
—
9
70
47
245
2.09
4.68
7.6
6.6
105.55
104.25
mmol/l
1.38
47
245
15
43
3.62
4.67
2.5
2.4
—
—
—
0
0
15
43
3.62
4.67
1.3
1.0
0.50
0.94
u/ml
—
8
18
93
614
1.74
4.50
3.0
2.7
0.38
0.45
e6/l
0.16
65
458
85
547
1.77
4.49
3.8
4.3
—
—
—
0
0
77
483
1.80
4.43
1.4
1.5
19.84
21.34
nmol/l
0.48
72
405
261
2285
2.03
4.42
5.6
4.6
1.69
2.38
mu/l
0.73
249
2122
31
139
2.37
4.42
3.4
3.2
7.35
7.42
ph
—
5
17
148
1111
1.65
4.40
3.0
2.7
117.10
119.51
ug/l
0.05
142
1034
15
38
4.10
4.36
1.3
1.1
2.63
2.39
u/ml
—
9
21
31
140
2.35
4.35
3.4
3.3
5.35
5.09
kpa
0.91
31
135
58
335
1.90
4.32
1.4
1.6
—
—
—
0
0
60
351
1.88
4.30
1.7
1.6
1261.66
1171.01
nmol/l
0.36
55
263
15
46
3.38
4.24
1.3
1.0
9.01
5.84
u/ml
—
8
26
113
800
1.66
4.17
3.6
3.2
37.80
113.02
e6/l
0.88
78
560
31
144
2.28
4.09
3.8
3.9
64.96
82.98
ng/l
1.21
26
132
26
113
2.42
3.98
14.2
9.3
—
—
—
0
0
203
1682
1.63
3.81
4.2
3.5
—
—
—
0
0
24
103
2.44
3.77
3.3
3.4
—
—
—
0
0
33
163
2.15
3.77
10.7
9.2
—
—
—
0
0
15
50
3.10
3.74
1.3
1.1
0.15
2.90
u/ml
—
7
29
135
1020
1.58
3.73
12.8
10.1
1.13
1.16
inr
0.24
43
296
279
2542
2.23
3.64
15.4
11.8
18.87
20.89
mg/l
0.58
235
1939
35
184
2.02
3.41
5.5
4.5
6.35
5.73
kpa
1.79
35
179
66
427
1.70
3.35
3.1
2.5
559.51
561.97
mosm/kgh2o
0.03
59
372
7
11
6.48
3.20
1.7
7.3
—
—
—
0
0
159
1281
1.51
3.10
6.1
6.0
12.54
10.76
umol/l
0.71
149
1219
197
1662
1.53
3.07
4.2
3.9
—
—
—
0
0
67
445
1.65
3.07
1.5
1.7
—
—
—
0
0
65
429
1.66
3.05
2.0
1.6
116364057.91
451.29
pmol/l
0.49
55
366
149
1191
1.49
2.98
3.3
3.2
0.00
0.01
estimate
0.50
29
225
12
37
3.33
2.97
2.3
2.4
—
—
—
0
0
11
32
3.53
2.93
1.2
1.0
2.55
1.46
u/ml
—
6
16
100
740
1.52
2.88
2.9
2.4
53.53
55.65
u/l
0.39
93
692
75
521
1.58
2.85
1.4
1.9
1.15
1.00
mg/l
0.18
56
406
35
197
1.88
2.82
1.3
1.6
—
—
—
0
0
11
34
3.32
2.75
1.5
1.2
—
—
—
0
0
10
29
3.53
2.71
1.2
1.1
1.53
5.54
u/ml
—
5
12
9
24
3.83
2.69
2.8
3.1
—
—
—
0
0
146
1179
1.46
2.69
4.4
4.4
0.00
0.00
estimate
-0.00
32
234
145
1177
1.44
2.56
3.3
3.2
0.00
0.00
estimate
0.50
31
244
6
11
5.54
2.55
1.0
1.0
—
—
—
0
0
16
332
0.45
2.54
1.1
1.3
—
—
—
0
0
24
123
2.03
2.53
10.3
7.4
25.92
24.83
mmol/l
0.59
24
117
45
287
1.67
2.40
4.3
2.3
5.61
8.11
umol/l
0.91
36
245
7
17
4.19
2.37
1.3
1.2
—
—
—
0
0
99
757
1.46
2.36
2.3
3.3
2.36
2.35
mmol/l
0.28
90
675
8
23
3.54
2.28
1.0
1.4
—
—
nmol/l
—
0
0
84
627
1.47
2.26
4.4
3.5
—
—
—
0
0
10
35
2.92
2.23
1.0
1.7
—
—
—
0
0
44
285
1.64
2.22
1.1
1.2
—
—
—
0
0
12
49
2.51
2.13
1.2
1.2
—
—
—
0
0
8
25
3.26
2.11
1.9
1.2
—
—
—
0
0
8
26
3.13
2.03
1.0
1.4
—
—
—
0
0
10
38
2.69
2.02
1.2
1.1
—
—
—
0
0
63
454
1.49
2.00
2.9
2.2
6.92
5.17
e6/l
0.36
58
410
13
57
2.34
2.00
3.2
3.2
8.68
8.43
kpa
0.17
13
57
13
57
2.34
2.00
2.8
2.3
23.39
24.68
mmol/l
0.45
13
57
37
236
1.65
1.99
2.6
2.4
74.63
30.88
u/l
0.43
27
203
11
45
2.50
1.95
2.5
4.2
—
—
—
0
0
11
45
2.50
1.95
1.5
2.5
—
—
—
0
0
259
2399
1.55
1.94
4.6
4.1
5.91
5.82
mmol/l
0.43
247
2231
281
2655
1.80
1.94
15.3
11.0
—
—
—
0
0
15
72
2.14
1.89
13.6
5.5
1.15
1.16
mmol/l
0.04
15
64
11
46
2.44
1.87
1.2
1.1
—
—
—
0
0
78
598
1.41
1.79
3.2
3.2
1630.75
411.14
mg/l
0.53
52
382
38
251
1.59
1.79
1.7
1.4
—
—
—
0
0
246
2268
1.45
1.75
6.1
5.0
39.12
39.02
mmol/mol
0.05
234
2137
47
328
1.51
1.75
1.6
2.2
29.69
29.53
s
0.08
42
320
17
89
1.96
1.73
4.0
3.8
24.49
24.75
mmol/l
0.13
17
84
47
329
1.51
1.72
2.0
2.0
—
—
—
0
0
5
13
3.89
1.72
1.0
1.4
—
—
—
0
0
10
40
2.55
1.68
1.8
3.5
3.59
4.44
e9/l
—
10
40
10
41
2.49
1.66
2.0
4.0
54.00
55.88
%
—
10
41
117
969
1.34
1.65
2.9
3.0
6.60
5.81
ph
—
5
91
104
847
1.35
1.64
4.3
3.2
60.10
37.29
ng/l
0.45
81
511
10
42
2.43
1.63
2.0
1.6
—
—
—
0
0
25
152
1.70
1.62
1.3
1.2
—
—
—
0
0
8
32
2.54
1.61
1.5
1.5
—
—
—
0
0
87
692
1.36
1.59
2.7
2.7
—
—
—
0
0
86
686
1.35
1.54
3.2
3.0
6.95
7.95
mmol/l
1.22
69
583
5
15
3.37
1.53
1.0
1.0
—
—
—
0
0
5
15
3.37
1.53
1.0
1.2
—
—
—
0
0
5
15
3.37
1.53
1.0
1.1
—
—
—
0
0
18
102
1.81
1.48
1.9
1.4
8.63
9.51
u/l
0.15
18
82
70
545
1.37
1.46
1.6
1.3
1.72
2.33
g/l
4.89
44
350
41
291
1.47
1.42
1.2
1.3
—
—
—
0
0
79
630
1.34
1.41
4.1
3.8
17.78
10.06
mg/mmol
0.37
51
389
25
159
1.62
1.39
2.1
3.0
70.93
71.87
e9/l
0.07
19
116
19
112
1.74
1.39
2.2
2.3
—
—
—
0
0
76
605
1.34
1.37
1.4
1.3
3.35
1.77
u/ml
0.22
18
180
5
17
2.97
1.36
1.0
1.1
—
—
—
0
0
45
334
1.41
1.25
1.4
1.2
—
—
—
0
0
51
387
1.38
1.25
2.3
2.7
2.48
2.44
mmol/l
1.09
43
331
46
344
1.40
1.22
1.7
2.3
101.37
111.58
ug/g
0.17
37
273
13
71
1.87
1.21
3.5
4.6
—
—
—
0
0
15
86
1.78
1.21
1.1
1.2
—
—
—
0
0
67
535
1.32
1.19
3.5
3.4
1.02
1.02
kg/l
—
8
67
31
217
1.48
1.17
1.2
1.1
—
—
—
0
0
8
39
2.08
1.16
1.3
4.1
—
—
—
0
0
38
279
1.41
1.13
1.4
1.4
—
—
—
0
0
8
40
2.03
1.13
1.1
1.1
—
—
—
0
0
196
1800
1.25
1.07
4.1
3.0
79.80
45.30
u/l
2.61
184
1712
12
67
1.82
1.06
1.7
2.5
—
—
—
0
0
57
453
1.32
1.05
1.3
1.3
19.04
29.69
iu/ml
0.95
20
152
68
555
1.29
1.03
1.9
1.9
—
—
—
0
0
64
519
1.30
1.02
3.4
3.3
—
—
—
0
0
7
35
2.02
1.00
1.3
3.5
60.94
66.91
%
—
7
35
16
100
1.63
0.99
1.3
1.5
363.80
258.51
miu/ml
—
5
56
12
69
1.77
0.98
2.0
2.4
—
—
—
0
0
26
183
1.46
0.97
2.9
2.4
2.96
8.29
e9/l
1.09
20
163
87
743
1.24
0.91
2.2
2.2
—
—
—
0
0
111
976
1.22
0.88
1.9
2.0
—
—
—
0
0
17
115
1.51
0.78
3.2
2.2
0.06
0.09
e6/l
0.29
17
109
79
679
1.22
0.77
1.8
1.7
1.53
1.44
mmol/l
0.40
65
588
24
322
0.72
0.77
1.3
1.4
—
—
—
0
0
11
67
1.67
0.76
1.0
1.1
—
—
—
0
0
11
67
1.67
0.76
1.2
1.3
245.96
292.51
ug/g
—
6
40
9
55
1.66
0.74
1.3
1.2
—
—
—
0
0
23
168
1.40
0.74
1.5
1.4
—
—
—
0
0
71
607
1.22
0.73
2.8
2.6
324.43
5475.88
umol/l
2.19
61
534
14
92
1.55
0.73
2.0
3.1
0.66
0.66
%
0.02
14
92
73
626
1.22
0.73
3.5
3.4
0.00
0.00
estimate
0.50
30
229
27
204
1.36
0.72
1.3
1.4
—
—
—
0
0
15
101
1.51
0.71
1.1
1.2
—
—
—
0
0
9
58
1.57
0.70
1.4
1.3
—
—
—
0
0
64
746
0.82
0.70
1.3
1.5
—
—
—
0
0
12
78
1.56
0.66
2.6
4.2
0.66
0.18
g/l
—
7
34
5
29
1.74
0.64
2.0
2.6
—
—
—
0
0
15
104
1.47
0.63
1.2
1.0
—
—
—
0
0
124
1129
1.17
0.63
2.3
2.5
—
—
—
0
0
10
152
0.65
0.63
1.3
1.7
—
—
—
0
0
73
637
1.19
0.62
4.3
4.0
1.53
1.77
ug/l
0.47
67
574
88
985
0.85
0.61
3.4
2.6
—
—
—
0
0
22
287
0.75
0.61
1.6
1.7
—
—
—
0
0
0
21
0.00
0.60
0.0
1.0
—
—
—
0
0
19
140
1.38
0.60
2.8
2.4
—
—
—
0
0
53
450
1.22
0.59
1.3
1.3
16.23
10.38
u/ml
0.20
21
191
8
55
1.47
0.56
1.1
1.5
—
—
—
0
0
6
38
1.59
0.54
1.7
1.9
13.17
13.27
%
—
6
38
6
39
1.55
0.53
1.3
1.4
29.48
25.15
u/l
—
6
33
6
39
1.55
0.53
2.5
3.5
7.27
7.73
mmol/l
—
6
39
218
2265
0.87
0.50
21.4
15.2
331.69
333.43
g/l
1.75
218
2255
15
110
1.38
0.49
1.6
1.4
270.47
310.07
mu/l
0.38
15
100
291
2864
1.41
0.49
24.1
17.7
40.72
40.79
%
0.06
278
2705
277
2710
1.26
0.48
11.6
9.6
33.19
27.96
u/l
4.19
272
2628
7
48
1.47
0.47
2.1
1.9
3.69
5.23
mmol/24h
—
7
40
15
197
0.75
0.45
1.4
1.4
—
—
—
0
0
7
51
1.38
0.44
3.0
2.4
—
—
—
0
0
13
96
1.37
0.42
3.5
3.0
—
—
—
0
0
10
70
1.44
0.42
1.6
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
7.20
—
0
15
0
15
0.00
0.41
0.0
1.3
—
—
—
0
0
5
35
1.44
0.39
1.0
1.1
—
—
—
0
0
6
42
1.44
0.35
2.5
3.3
1.60
1.28
mmol/l
—
6
42
24
201
1.21
0.33
4.2
4.1
—
—
—
0
0
7
52
1.35
0.31
3.1
3.5
—
—
—
0
0
21
175
1.21
0.31
1.1
1.3
—
37.56
—
0
15
12
95
1.27
0.26
2.3
1.5
—
—
—
0
0
5
71
0.70
0.26
1.6
1.8
—
—
—
0
0
26
297
0.86
0.25
1.8
1.7
—
—
—
0
0
6
83
0.72
0.24
24.2
8.9
—
—
—
0
0
5
41
1.22
0.22
1.4
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
4.2
—
7.54
—
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
20
173
1.17
0.21
1.1
1.2
—
—
—
0
0
0
14
0.00
0.20
0.0
2.5
—
53.20
—
0
5
0
14
0.00
0.20
0.0
1.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
257
2533
1.10
0.19
5.2
4.5
2.83
2.86
mmol/l
0.23
242
2365
5
66
0.75
0.17
1.4
1.3
—
—
—
0
0
237
2405
0.93
0.16
4.6
3.7
1.44
1.29
mmol/l
2.23
220
2237
7
87
0.80
0.14
1.4
2.1
—
—
—
0
0
246
2488
0.94
0.13
5.0
4.1
1.53
1.47
mmol/l
0.96
232
2326
39
372
1.06
0.08
2.6
2.6
0.50
0.72
ug/l
2.04
26
223
18
166
1.09
0.08
3.1
3.3
—
—
—
0
0
7
84
0.83
0.07
1.7
1.6
—
—
—
0
0
21
224
0.93
0.07
3.0
4.4
8.79
58.21
ug/l
0.76
15
183
12
132
0.91
0.07
1.2
1.6
—
—
—
0
0
9
102
0.88
0.06
1.2
1.2
—
—
—
0
0
21
199
1.06
0.04
2.2
2.4
—
21.59
—
0
13
15
141
1.07
0.03
1.1
1.1
—
—
—
0
0
10
108
0.92
0.03
1.3
1.6
—
—
—
0
0
12
126
0.95
0.00
1.0
1.1
—
—
—
0
0
12
126
0.95
0.00
1.2
1.7
—
—
—
0
0
250
2494
1.01
0.00
5.0
4.2
4.87
4.77
mmol/l
0.80
238
2348
13
133
0.98
0.00
1.2
1.6
—
—
—
0
0
13
133
0.98
0.00
1.2
1.6
—
—
—
0
0
13
133
0.98
0.00
1.2
1.6
—
—
—
0
0
20
205
0.97
0.00
3.1
2.9
—
—
—
0
0
21
206
1.02
0.00
1.4
1.2
103.79
149.70
iu/ml
—
7
90
5
58
0.86
0.00
1.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
50
1.00
-0.00
1.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
50
1.00
-0.00
1.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.0
—
48.08
—
0
6
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
9
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.0
—
16.26
—
0
5
0
5
0.00
-0.00
0.0
1.2
—
73.68
—
0
5
0
6
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.6
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
2.92
—
0
5
0
7
0.00
-0.00
0.0
1.4
—
—
—
0
0
6
60
1.00
-0.00
1.7
1.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
2.6
—
—
—
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: 24

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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