Myotonic disorders

G6_MYOTDIS

Endpoint definition

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps

FinnGen

Phenotype data

557745

1. Apply sex-specific rule

None

557745

2. Check conditions

None

557745

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.

326

4. Check minimum number of events

None

326

5. Include endpoints

None

326

6. Filter based on genotype QC (FinnGen only)

295

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 295 173 122
Unadjusted period prevalence (%) 0.06 0.06 0.06
Median age at first event (years) 48.11 48.07 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
309
Matched controls
3090
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.18
ICD-10 Finland
Other myotonic disease
+∞
145.7
128
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
135.7
120
*
Z31.5
ICD-10 Finland
Genetic counselling
19.2
133.2
126
107
G71.12
ICD-10 Finland
Myotonia congenita
+∞
123.4
110
*
G72.9
ICD-10 Finland
Myopathy, unspecified
548.3
48.8
47
*
R1250
NOMESCO Finland
Evaluation of functional capability
12.6
40.6
42
38
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.3
36.5
71
139
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
32.9
31
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
29.7
28
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
29.7
28
*
G71.1
ICD-10 Finland
Myotonic disorders
307.9
28.2
28
*
L28
ICPC
Limited function/disability (L)
4.2
26.1
89
274
N99
ICPC
Neurological disease other
30.0
22.7
30
11
SPAT1215
SPAT
Assessment of need for medical rehabilitation
7.2
20.4
32
49
XF404
NOMESCO Finland
Ambulatory ECG
4.6
19.1
50
124
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.5
19.1
40
82
H26.02
ICD-10 Finland
Presenil cataract
8.4
18.6
25
32
N03AF01
ATC
carbamazepine; oral, rectal
5.4
18.1
38
78
N03AX09
ATC
lamotrigine; oral
5.0
17.9
42
95
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
17.9
17
*
C01BB02
ATC
mexiletine; systemic
190.5
17.7
18
*
N03AE01
ATC
clonazepam; systemic
4.9
15.9
37
83
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
157.1
14.6
15
*
J96.1
ICD-10 Finland
Chronic respiratory failure
15.4
14.3
23
16
L19
ICPC
Muscle symptom/complaint NOS
6.3
13.7
24
41
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
3.0
13.6
73
290
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
12.6
12
*
SPAT1229
SPAT
Assessment of need for aid
4.5
12.4
32
78
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.8
12.3
41
121
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.5
12.1
110
567
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
11.5
11
*
3592A
ICD-9 Finland
Muscular dystrophies and other myopathies, Myotonic disorders
+∞
11.5
11
*
N29
ICPC
Neurological sympt/complt other
11.2
11.5
21
20
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.9
11.2
58
225
Z3226
NOMESCO Finland
Physiotherapist
2.7
11.1
74
327
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.5
11.0
90
439
XA800
NOMESCO Finland
Neuropsychological investigation
3.9
10.6
32
88
G71.14
ICD-10 Finland
Paramyotonia congenita
+∞
10.5
10
*
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
10.5
10
*
RF410, ,
NOMESCO Finland
19.6
10.4
15
8
RF420, ,
NOMESCO Finland
15.3
10.1
16
11
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
4.5
10.0
25
59
R42
ICD-10 Finland
Dizziness and giddiness
2.5
10.0
79
378
H26.4
ICD-10 Finland
After-cataract
3.5
9.8
35
108
G72.8
ICD-10 Finland
Other specified myopathies
56.8
9.7
11
*
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
3.3
9.6
38
125
R4120
NOMESCO Finland
Occupational therapy
3.4
9.2
35
112
RF210, ,
NOMESCO Finland
5.1
9.0
19
39
K80.2
ICD-10 Finland
Calculus of gallbladder without cholecystitis
2.8
8.7
48
191
N03AX12
ATC
[U] gabapentin; oral
2.4
8.4
65
306
N28
ICPC
Limited function/disability (N)
9.9
8.4
16
17
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
8.4
8
*
R4110
NOMESCO Finland
Physiotherapy
2.1
8.3
98
550
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
4.4
8.3
21
50
L99
ICPC
Musculoskeletal disease other
7.2
8.2
19
28
A28
ICPC
Limited function/disability NOS
2.6
8.1
50
211
G47.3
ICD-10 Finland
Sleep apnoea
2.2
8.0
90
495
N03AX16
ATC
[U] pregabalin
2.2
7.8
83
447
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
2.1
7.5
90
506
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
2.1
7.4
80
432
Z82.6
ICD-10 Finland
Family history of arthritis and other diseases of the musculoskeletal system and connective tissue
+∞
7.3
7
*
G71.10
ICD-10 Finland
Myotonia drug-induced
+∞
7.3
7
*
I70.2
ICD-10 Finland
Atherosclerosis of arteries of extremities
3.5
7.3
26
80
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
7.6
7.3
16
22
RF120, ,
NOMESCO Finland
12.4
7.1
12
10
R4110, ,
SPAT
2.4
7.0
53
246
Z3231
NOMESCO Finland
Registered nurse
2.0
6.9
93
544
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.6
6.8
42
177
N06AX21
ATC
duloxetine; oral
2.4
6.6
51
239
SPAT1217
SPAT
Assessment of need for services (elderly/care support)
3.8
6.6
20
55
M03BX01
ATC
baclofen; systemic
5.9
6.6
17
30
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
71.3
6.4
7
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.1
6.4
66
348
M79.1
ICD-10 Finland
Myalgia
2.2
6.4
62
319
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
6.3
6
*
H28.2*G71.11
ICD-10 Finland
Myotonic cataract
+∞
6.3
6
*
TNX05
NOMESCO Finland
Simple incision of soft tissue, unspecified region
+∞
6.3
6
*
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
3.9
6.2
18
48
R5110, ,
SPAT
2.8
6.1
31
118
R03AC02
ATC
salbutamol; inhalant
1.8
6.0
184
1383

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
788
4.30
35.46
3.4
2.1
295.39
172.87
u/l
1.68
176
752
133
666
2.75
16.44
3.0
3.3
850.32
934.62
ng/l
0.10
112
558
197
1254
2.58
14.18
7.8
7.1
1.21
1.21
mmol/l
0.26
178
1085
68
264
3.02
13.20
9.3
8.6
12.01
12.74
kpa
0.54
68
257
68
264
3.02
13.20
9.3
8.6
5.31
5.15
kpa
0.56
68
256
67
263
2.98
12.72
9.4
8.7
7.42
7.42
ph
0.00
38
153
65
254
2.97
12.42
9.4
8.9
1.69
0.99
mmol/l
0.68
58
216
88
413
2.58
11.78
1.4
1.4
1061.54
573.49
titre
0.58
13
86
171
1134
2.14
9.70
7.6
6.4
1.21
1.21
mmol/l
0.21
165
1053
169
1125
2.11
9.39
5.1
4.8
35.67
36.60
g/l
1.25
157
1074
187
1294
2.13
9.36
5.7
6.9
8.96
8.77
%
0.36
180
1236
190
1337
2.09
8.92
5.7
6.8
28.87
28.98
%
0.05
183
1286
42
154
3.00
8.87
1.9
3.6
129.51
118.16
ng/l
0.10
35
141
255
2034
2.45
8.45
8.2
8.1
82.41
77.88
u/l
0.73
249
1938
138
885
2.01
8.15
4.6
6.7
—
—
—
0
0
182
1287
2.01
8.12
5.8
6.8
3.07
2.85
%
0.61
176
1226
208
1543
2.06
8.10
6.5
4.8
6.37
6.50
mmol/l
0.47
198
1452
182
1289
2.00
8.06
5.8
6.8
0.70
0.71
%
0.11
175
1220
60
279
2.43
7.95
1.6
2.0
362.26
366.36
nmol/l
0.06
53
264
199
1460
2.02
7.90
6.6
6.9
0.20
0.19
e9/l
0.56
175
1292
160
1090
1.97
7.86
1.9
2.0
96.08
96.22
pmol/l
0.01
87
556
76
397
2.21
7.68
2.7
2.8
2.89
2.22
e6/l
0.26
33
184
193
1409
1.98
7.67
5.9
6.7
0.56
0.56
e9/l
0.03
165
1225
193
1412
1.98
7.59
5.9
6.7
0.04
0.04
e9/l
0.02
163
1226
121
759
1.98
7.46
4.1
4.1
7.40
7.40
ph
0.25
92
539
195
1450
1.93
7.10
5.8
6.7
1.89
2.02
e9/l
0.62
172
1294
65
329
2.24
7.05
8.6
6.9
105.52
104.35
mmol/l
1.36
65
329
34
126
2.91
7.03
7.1
4.6
—
—
—
0
0
180
1313
1.89
6.85
5.9
6.7
54.69
56.56
%
1.20
175
1270
168
1206
1.86
6.65
2.7
2.5
77.63
75.71
nmol/l
0.36
158
1099
36
142
2.74
6.64
14.8
9.3
16.36
16.28
%
0.05
36
137
85
489
2.02
6.58
3.9
3.7
186.61
281.23
ng/l
0.35
64
341
203
1566
1.86
6.19
7.4
10.4
3.95
3.91
e9/l
0.07
175
1378
108
693
1.86
5.96
2.6
2.8
—
—
—
0
0
122
825
1.79
5.61
3.4
3.0
16.97
129.40
e6/l
0.80
85
629
107
698
1.82
5.53
1.6
1.6
19.66
20.88
nmol/l
0.47
97
594
44
210
2.28
5.44
12.1
9.6
—
—
—
0
0
58
310
2.07
5.41
1.7
1.7
—
—
—
0
0
47
235
2.18
5.19
5.3
4.7
0.00
0.16
%
—
8
57
33
142
2.48
5.13
1.7
2.6
—
—
—
0
0
10
12
8.57
5.10
3.3
4.2
29.30
33.23
umol/l
—
10
6
47
237
2.16
5.09
6.0
5.1
0.00
0.12
%
—
8
49
107
713
1.77
5.08
3.2
2.9
0.37
0.41
e6/l
0.11
70
510
98
641
1.77
4.94
2.4
2.1
2.99
2.90
mg/l
0.10
87
562
47
240
2.13
4.92
5.2
4.6
0.30
0.67
%
—
10
66
99
652
1.76
4.86
3.9
4.4
—
—
—
0
0
185
1451
1.69
4.71
6.7
6.4
11.06
11.06
umol/l
0.00
178
1383
155
1161
1.67
4.71
13.3
10.3
1.16
1.16
inr
0.02
132
953
16
48
3.46
4.67
2.6
2.6
—
—
—
0
0
173
1338
1.67
4.61
3.4
3.1
114.42
118.51
ug/l
0.10
167
1263
17
54
3.27
4.56
1.2
1.1
2.41
1.71
u/ml
—
10
32
66
392
1.87
4.52
1.5
1.6
—
—
—
0
0
161
1228
1.65
4.49
11.9
11.1
0.00
0.00
e9/l
0.26
128
1010
133
967
1.66
4.47
4.0
3.6
37.86
108.54
e6/l
0.95
89
667
47
250
2.04
4.42
5.3
4.6
0.56
0.88
%
—
9
73
294
2688
2.93
4.34
23.0
15.6
140.05
139.77
mmol/l
1.24
294
2637
17
56
3.15
4.31
1.2
1.0
1.20
0.91
u/ml
—
9
27
294
2691
2.91
4.27
23.1
15.7
3.96
3.95
mmol/l
0.32
294
2633
222
1853
1.70
4.24
4.7
3.8
—
20203.40
—
0
5
245
2104
1.79
4.19
5.1
4.4
14.51
14.58
pmol/l
0.17
233
1947
60
358
1.84
4.03
1.7
1.6
1261.66
1157.99
nmol/l
0.43
55
267
48
266
1.95
4.03
2.8
2.5
65.31
30.74
u/l
0.44
35
228
17
59
2.99
3.96
1.2
1.0
8.07
5.07
u/ml
—
10
37
72
462
1.73
3.78
3.3
2.6
535.12
546.70
mosm/kgh2o
0.16
66
410
8
12
6.81
3.69
1.8
6.8
18.97
16.28
%
—
8
12
120
883
1.59
3.67
2.5
3.3
2.36
2.35
mmol/l
0.22
109
811
34
172
2.10
3.66
3.5
3.3
5.40
5.11
kpa
1.17
34
167
44
247
1.91
3.56
5.5
4.5
7.36
7.39
ph
2.01
26
147
34
174
2.07
3.55
3.8
4.0
66.97
88.42
ng/l
1.44
29
157
112
818
1.58
3.51
5.0
6.6
—
—
—
0
0
275
2486
1.97
3.48
6.5
5.3
1.73
1.87
mu/l
1.18
266
2323
262
2335
1.80
3.45
23.1
17.3
13.67
13.46
%
1.15
262
2321
290
2682
2.32
3.30
18.5
13.9
19.98
21.87
mg/l
0.54
255
2151
17
66
2.67
3.27
1.3
1.1
0.47
2.17
u/ml
—
8
40
27
132
2.15
3.18
1.6
2.1
11.00
4.72
iu/ml
—
7
33
113
844
1.53
3.14
3.1
2.6
53.95
61.06
u/l
0.70
105
792
28
141
2.08
3.06
9.5
7.0
25.81
24.76
mmol/l
0.67
28
135
12
36
3.43
3.05
1.5
1.3
255.17
262.64
mu/l
0.06
12
28
25
121
2.16
3.02
3.6
3.4
—
—
—
0
0
29
150
2.03
2.96
6.3
4.4
24.77
24.27
mmol/l
0.31
29
150
41
241
1.81
2.88
1.4
1.6
—
—
—
0
0
52
328
1.70
2.88
4.3
2.5
7.14
7.56
umol/l
0.08
42
288
75
521
1.58
2.84
1.5
1.8
—
—
—
0
0
19
84
2.34
2.83
1.2
1.4
—
—
—
0
0
57
374
1.64
2.72
1.9
2.0
—
—
—
0
0
70
485
1.57
2.68
2.1
1.7
104918470.08
27990882.07
pmol/l
0.32
61
418
12
43
2.86
2.67
1.2
1.1
2.26
4.71
u/ml
—
6
22
13
49
2.73
2.66
1.2
1.0
2.42
1.20
u/ml
—
7
29
174
1455
1.45
2.62
3.7
3.5
0.00
0.01
estimate
0.50
34
283
16
68
2.43
2.60
2.3
4.1
57.26
64.17
%
0.45
16
68
34
196
1.83
2.56
2.1
3.1
73.21
74.13
e9/l
0.04
22
135
172
1447
1.43
2.44
3.7
3.5
0.00
5.38
estimate
0.50
37
302
13
52
2.57
2.39
2.5
2.4
90.82
89.98
%
0.21
13
52
170
1436
1.41
2.30
3.5
3.4
0.00
0.00
estimate
-0.00
38
305
10
34
3.00
2.30
3.5
2.9
—
—
—
0
0
8
23
3.54
2.28
1.3
1.3
97.62
102.65
pmol/l
—
8
23
6
13
4.68
2.28
2.2
2.0
61.50
65.43
ug/l
—
6
13
6
13
4.68
2.28
1.0
1.0
—
—
—
0
0
82
608
1.47
2.27
1.5
1.9
1.21
1.09
mg/l
0.14
62
479
68
486
1.51
2.25
2.3
2.5
2.49
2.44
mmol/l
1.83
58
433
13
54
2.47
2.23
1.5
3.0
5.00
7.77
pmol/l
0.99
13
54
18
341
0.50
2.22
1.1
1.3
—
—
—
0
0
16
74
2.23
2.18
1.2
1.3
—
—
—
0
0
58
403
1.54
2.18
1.7
2.5
146.73
108.09
ug/g
0.55
46
322
11
42
2.68
2.16
1.0
1.6
—
—
—
0
0
9
30
3.06
2.16
2.1
1.3
—
—
—
0
0
16
75
2.20
2.12
12.9
5.4
1.11
1.23
mmol/l
0.39
16
67
18
89
2.09
2.10
2.7
2.3
24.36
24.63
mmol/l
0.09
18
89
49
331
1.57
2.08
1.2
1.2
—
—
—
0
0
13
56
2.38
2.07
1.2
1.1
—
—
—
0
0
12
50
2.46
2.05
1.2
1.0
—
—
—
0
0
14
63
2.28
2.04
1.2
3.1
1.40
3.04
ratio
—
6
38
22
119
1.91
2.03
2.0
2.2
—
—
—
0
0
8
26
3.13
2.02
1.0
1.5
—
—
nmol/l
—
0
0
15
72
2.14
1.89
3.1
3.1
8.68
8.35
kpa
0.26
15
72
84
646
1.41
1.89
1.6
1.4
1.89
2.37
g/l
3.08
53
411
18
93
1.99
1.89
3.8
3.7
24.41
24.72
mmol/l
0.18
18
87
92
721
1.39
1.86
1.4
1.3
2.84
1.78
u/ml
0.18
22
213
26
154
1.75
1.83
2.6
3.8
127.88
129.95
g/l
0.16
26
149
27
162
1.73
1.82
1.3
1.2
—
—
—
0
0
53
376
1.49
1.82
1.6
2.2
29.78
29.24
s
0.33
48
367
7
24
2.96
1.73
1.0
1.1
—
—
—
0
0
100
804
1.36
1.71
2.8
2.7
—
0.15
—
0
13
296
2840
2.00
1.70
24.1
17.5
68.87
74.23
umol/l
2.65
296
2808
117
967
1.34
1.67
4.5
3.4
56.89
34.11
ng/l
0.51
88
614
6
19
3.20
1.67
1.0
1.1
—
—
—
0
0
80
625
1.38
1.63
2.0
2.1
—
—
—
0
0
10
42
2.43
1.63
1.8
3.7
3.59
4.33
e9/l
—
10
42
43
299
1.51
1.63
1.7
1.4
—
—
—
0
0
136
1153
1.32
1.61
3.1
3.2
6.30
6.20
ph
0.51
74
669
51
369
1.46
1.59
3.1
3.0
3.84
6.34
e9/l
0.99
43
333
290
2772
1.75
1.58
16.7
12.2
—
—
—
0
0
72
556
1.38
1.57
2.9
2.4
6.57
5.70
e6/l
0.17
66
508
267
2507
1.48
1.56
6.8
5.8
38.29
38.66
mmol/mol
0.25
260
2378
37
252
1.53
1.54
1.2
1.2
—
—
—
0
0
51
374
1.44
1.49
1.5
1.3
—
—
—
0
0
270
2548
1.47
1.46
5.3
4.7
5.91
5.83
mmol/l
0.40
257
2379
217
1986
1.31
1.37
4.5
3.3
78.77
46.05
u/l
2.78
210
1900
5
17
2.97
1.36
1.0
1.0
—
—
—
0
0
5
17
2.97
1.36
2.4
5.1
11.12
8.18
mmol/l
—
5
17
71
563
1.34
1.31
1.4
1.3
18.10
28.38
iu/ml
1.10
23
171
5
18
2.81
1.29
1.0
1.3
—
—
—
0
0
11
55
2.04
1.29
1.9
3.5
54.70
56.72
%
0.32
11
55
8
35
2.32
1.28
1.5
1.5
17.66
37.47
ng/l
—
8
35
8
36
2.25
1.25
1.0
1.9
—
—
—
0
0
8
36
2.25
1.25
1.0
1.9
—
—
—
0
0
8
36
2.25
1.25
1.0
1.9
—
—
—
0
0
8
36
2.25
1.25
1.0
1.9
—
—
—
0
0
12
63
1.94
1.24
1.3
1.2
—
—
—
0
0
45
335
1.40
1.23
1.2
1.4
—
—
—
0
0
84
689
1.30
1.22
2.8
2.7
315.55
335.60
umol/l
1.16
74
618
84
689
1.30
1.22
5.0
5.0
—
—
—
0
0
8
37
2.19
1.22
1.6
1.4
58.88
58.31
mmol/l
—
8
32
15
87
1.76
1.17
1.1
1.2
—
—
—
0
0
5
20
2.52
1.15
1.0
1.1
—
—
—
0
0
106
904
1.26
1.13
3.2
3.2
7.18
8.15
mmol/l
1.26
86
772
5
21
2.40
1.09
1.2
1.1
—
—
—
0
0
98
833
1.26
1.07
2.9
2.8
0.00
0.01
estimate
0.80
34
249
9
48
1.90
1.01
1.1
1.2
—
—
—
0
0
13
76
1.74
1.00
1.7
2.6
—
—
—
0
0
126
1111
1.23
0.98
3.5
3.2
0.00
0.02
estimate
0.96
31
262
94
805
1.24
0.95
3.4
3.4
67.26
56.22
mg/l
0.16
58
509
29
392
0.71
0.95
1.3
1.5
—
—
—
0
0
64
524
1.28
0.95
1.4
1.3
13.17
10.29
u/ml
0.12
28
217
42
324
1.34
0.95
1.5
1.4
—
—
—
0
0
95
816
1.24
0.94
4.4
4.0
16.51
9.41
mg/mmol
0.38
57
498
18
118
1.56
0.93
1.1
1.2
—
—
—
0
0
33
246
1.38
0.92
2.1
2.1
0.00
0.00
estimate
-0.00
12
61
6
29
2.09
0.90
2.5
2.1
43.03
40.03
%
—
6
29
6
29
2.09
0.90
1.8
4.2
10.35
11.36
%
—
6
29
20
136
1.50
0.89
1.5
2.3
0.00
0.00
estimate
-0.00
11
50
99
859
1.22
0.89
2.4
2.3
—
—
—
0
0
91
784
1.23
0.87
3.5
3.6
0.00
0.01
estimate
0.74
36
288
13
80
1.65
0.86
1.2
1.3
284.59
306.07
ug/g
—
8
48
18
121
1.52
0.85
1.2
1.5
457.17
251.93
miu/ml
—
6
65
73
854
0.81
0.83
1.3
1.5
—
—
—
0
0
19
131
1.48
0.80
1.9
3.2
0.63
0.60
%
0.19
19
131
7
122
0.56
0.79
1.3
1.1
—
0.73
—
0
15
18
123
1.49
0.79
1.6
1.5
266.61
313.90
mu/l
0.57
18
113
10
162
0.60
0.79
1.3
1.7
—
—
—
0
0
75
642
1.22
0.76
3.8
3.5
1.02
1.02
kg/l
0.23
51
422
21
150
1.43
0.75
1.3
1.1
—
—
—
0
0
138
1253
1.18
0.74
2.6
2.7
—
—
estimate
—
0
0
119
1070
1.18
0.71
2.1
2.0
—
—
—
0
0
5
27
1.87
0.68
2.4
1.3
29.00
32.74
pg
—
5
27
10
62
1.63
0.66
1.4
1.3
—
—
—
0
0
107
1178
0.86
0.60
3.6
3.0
—
—
—
0
0
0
22
0.00
0.59
0.0
1.0
—
—
—
0
0
27
212
1.30
0.58
2.6
2.2
5.72
6.08
ph
1.47
16
134
11
73
1.53
0.57
1.1
1.4
—
—
—
0
0
28
224
1.27
0.53
1.3
1.4
—
—
—
0
0
80
716
1.16
0.50
4.7
4.5
1.47
1.73
ug/l
0.56
75
649
26
321
0.79
0.49
1.7
1.7
—
—
—
0
0
7
45
1.57
0.49
1.3
1.4
28.56
23.68
u/l
—
7
38
9
127
0.70
0.44
1.2
1.1
1.64
1.56
g/l
—
9
127
7
51
1.38
0.44
2.1
2.0
3.69
5.16
mmol/24h
—
7
43
228
2357
0.88
0.44
25.0
17.7
331.45
333.22
g/l
1.87
228
2346
28
337
0.81
0.44
2.0
1.8
—
—
—
0
0
11
78
1.43
0.43
1.0
1.1
—
—
—
0
0
5
32
1.57
0.42
1.6
1.2
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
7.20
—
0
15
0
17
0.00
0.41
0.0
1.1
—
—
—
0
0
12
88
1.38
0.40
2.6
4.6
663.29
252.90
mg/l
—
7
40
5
34
1.48
0.40
1.0
1.2
—
—
—
0
0
128
1200
1.11
0.39
2.1
2.0
1.54
1.42
mmol/l
0.96
109
1028
5
36
1.40
0.38
1.0
1.2
—
—
—
0
0
23
191
1.22
0.34
1.1
1.4
—
34.44
—
0
18
6
86
0.69
0.33
24.7
9.0
—
—
—
0
0
261
2662
0.87
0.33
5.7
4.8
1.54
1.47
mmol/l
1.31
248
2499
7
54
1.30
0.30
3.3
3.6
—
—
—
0
0
10
130
0.76
0.30
1.9
1.1
0.79
0.92
g/l
—
10
130
14
112
1.26
0.29
4.0
3.0
1.02
1.02
ratio
0.21
14
107
249
2539
0.90
0.27
4.9
4.1
1.44
1.29
mmol/l
2.37
234
2373
11
86
1.29
0.26
2.1
1.9
—
—
—
0
0
21
180
1.18
0.24
1.1
1.1
—
—
—
0
0
6
84
0.71
0.24
1.5
1.8
—
—
—
0
0
5
40
1.25
0.22
1.2
1.3
—
—
—
0
0
5
41
1.22
0.22
1.0
1.2
—
—
—
0
0
23
201
1.16
0.22
1.3
1.2
—
—
—
0
0
0
13
0.00
0.21
0.0
1.1
—
—
—
0
0
0
14
0.00
0.20
0.0
2.6
—
53.20
—
0
5
0
14
0.00
0.20
0.0
4.1
—
9.32
—
0
14
264
2670
0.92
0.16
5.8
4.9
4.83
4.72
mmol/l
0.99
252
2525
6
76
0.79
0.16
1.3
1.3
—
—
—
0
0
10
83
1.21
0.15
1.7
1.2
—
—
—
0
0
17
150
1.14
0.15
1.9
1.6
0.41
0.35
mg/l
0.12
12
63
46
432
1.08
0.14
2.8
2.8
0.52
0.74
ug/l
2.16
28
258
25
233
1.08
0.09
1.4
1.3
90.94
144.23
u/ml
—
8
102
6
56
1.07
0.08
1.3
1.9
—
—
—
0
0
5
65
0.77
0.08
1.2
1.1
—
—
—
0
0
5
65
0.77
0.08
1.2
1.1
—
—
—
0
0
11
123
0.89
0.08
1.3
1.3
—
—
—
0
0
6
71
0.84
0.07
1.7
1.8
—
—
—
0
0
20
214
0.93
0.07
3.1
3.1
—
—
—
0
0
26
247
1.06
0.06
3.2
4.7
7.03
54.21
ug/l
0.81
20
200
14
130
1.08
0.04
1.3
1.6
—
—
—
0
0
15
141
1.07
0.03
1.0
1.1
—
—
—
0
0
269
2700
0.97
0.03
6.2
5.5
2.79
2.79
mmol/l
0.00
256
2543
16
158
1.01
0.00
1.3
1.7
—
—
—
0
0
16
157
1.02
0.00
1.3
1.7
—
—
—
0
0
16
157
1.02
0.00
1.3
1.7
—
—
—
0
0
11
105
1.05
0.00
1.4
2.1
—
—
—
0
0
10
105
0.95
0.00
2.7
1.6
—
—
—
0
0
16
155
1.03
0.00
1.3
1.7
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
73.68
—
0
5
0
5
0.00
0.00
0.0
2.4
—
—
—
0
0
0
5
0.00
0.00
0.0
3.4
—
6.12
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
57.60
—
0
5
0
8
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
8
0.00
-0.00
0.0
2.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
5
51
0.98
-0.00
1.0
1.1
—
13.00
—
0
9
0
8
0.00
-0.00
0.0
1.1
—
49.15
—
0
8
0
7
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
2.90
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
15
150
1.00
-0.00
1.3
1.7
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
4.0
—
48.08
—
0
6
0
6
0.00
-0.00
0.0
2.2
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.3
—
—
—
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: 26

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
loading spinner Loading data