No definition available.
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
102 |
4. Check minimum number of eventsNone |
102 |
5. Include endpoints |
247 |
6. Filter based on genotype QC (FinnGen only) |
247 |
Control definitions (FinnGen only)
Controls for this endpoint are individuals that are not cases.
Extra metadata
- First used in FinnGen datafreeze
- DF3
Increased muscle tone
based on the number of shared cases.
Similar with more cases:
Similar with less cases:
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2783 | 1485 | 1289 |
| Only index persons | 2421 | 1322 | 1099 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.04 | 0.04 | 0.04 |
| Only index persons | 0.05 | 0.05 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 25.36 | 29.73 | 20.19 |
| Only index persons | 27.32 | 31.23 | 22.61 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 247 | 159 | 88 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.04 |
| Median age at first event (years) | 51.00 | 47.48 | 57.36 |
-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
- 227
- Matched controls
- 2267
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
M62.4
ICD-10 Finland
Contracture of muscle
+∞
154.4
130
*
R29.3
ICD-10 Finland
Abnormal posture
+∞
60.1
55
*
R29.0
ICD-10 Finland
Tetany
+∞
36.4
34
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
4.4
9.4
34
87
78850
ICD-8 Finland
Other general symptoms, Tetany
+∞
8.4
8
*
M79.6
ICD-10 Finland
Pain in limb
2.3
7.8
95
543
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.4
6.8
24
60
M41.1
ICD-10 Finland
Juvenile idiopathic scoliosis
23.3
6.7
9
*
M25.5
ICD-10 Finland
Pain in joint
2.2
6.5
74
402
NHE80
NOMESCO Finland
Incsion and freeing of capsule of toe joint
+∞
6.3
6
*
U07
ICPC
Urine symptom/complaint other
4.8
6.1
19
42
WX702
NOMESCO Finland
Supraglottic ventilation device
4.7
6.0
19
43
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
62
297
2.45
7.89
2.4
3.1
3.9
2.4
e6/l
0.43
36
158
108
667
2.10
7.36
3.2
3.2
—
—
—
0
0
59
318
2.12
5.54
2.4
2.9
1.2
0.8
e6/l
0.39
34
177
60
327
2.10
5.47
3.8
3.5
191.9
149.1
ng/l
0.13
41
232
84
524
1.91
5.21
3.1
3.1
0.2
0.3
e6/l
0.48
66
387
110
760
1.81
4.87
5.3
5.1
36.7
36.1
g/l
0.62
102
719
137
1013
1.79
4.80
4.3
6.7
9.8
11.3
umol/l
1.62
132
968
29
132
2.36
4.05
1.1
1.0
—
—
—
0
0
100
703
1.71
3.97
2.3
1.8
103.3
97.3
pmol/l
0.48
49
365
120
890
1.68
3.88
9.2
7.9
1.2
1.2
mmol/l
0.53
106
778
180
1500
1.74
3.63
6.8
7.3
81.8
79.7
u/l
0.16
173
1408
76
510
1.71
3.51
1.4
1.3
1.0
1.3
u/ml
—
8
124
110
818
1.62
3.39
7.6
7.6
1.2
1.2
mmol/l
0.48
103
756
183
1552
1.69
3.24
4.7
3.9
14.3
14.6
pmol/l
0.97
173
1406
108
808
1.60
3.20
2.5
2.4
76.6
74.8
nmol/l
0.28
97
719
148
1193
1.60
3.20
7.9
9.5
4.2
4.0
e9/l
0.57
131
1045
35
190
1.98
3.17
2.1
1.8
—
—
—
0
0
85
603
1.62
3.12
2.2
2.4
56.1
56.4
u/l
0.03
78
559
141
1129
1.58
3.09
4.9
5.4
6.5
6.5
mmol/l
0.01
133
1037
174
1465
1.64
3.08
4.6
4.0
12.1
11.1
mm/h
0.41
164
1337
34
188
1.94
2.93
1.9
1.7
—
—
—
0
0
69
476
1.62
2.80
2.4
3.1
326.3
5882.4
umol/l
2.05
58
412
85
624
1.55
2.63
3.8
3.3
2.4
2.4
mmol/l
0.22
76
548
31
174
1.89
2.57
1.7
2.6
30.6
28.1
u/l
0.39
25
147
34
197
1.84
2.56
7.7
11.0
0.7
1.2
mmol/l
0.31
25
151
24
124
2.04
2.50
1.3
1.3
—
29.4
—
0
10
48
310
1.68
2.50
1.9
1.6
907.9
1213.3
nmol/l
2.14
33
238
63
441
1.58
2.38
1.7
2.0
1.6
1.3
mg/l
0.22
55
344
44
282
1.68
2.36
2.0
1.9
—
—
—
0
0
67
479
1.55
2.30
2.4
1.9
2.4
3.1
mg/l
2.22
58
408
14
60
2.41
2.26
1.4
1.2
—
—
—
0
0
14
61
2.37
2.19
1.4
1.2
—
—
—
0
0
119
977
1.42
1.99
3.6
3.4
0.0
0.0
estimate
0.00
18
198
14
64
2.26
1.98
1.4
1.2
—
—
—
0
0
50
346
1.56
1.97
1.4
1.3
11.8
30.7
iu/ml
2.71
17
119
49
339
1.56
1.93
1.4
1.3
14.7
11.7
u/ml
0.08
14
141
158
1371
1.42
1.89
3.2
3.0
37.5
42.2
u/l
0.50
150
1292
49
341
1.55
1.89
2.3
2.3
—
—
—
0
0
15
73
2.12
1.85
1.3
2.1
—
—
—
0
0
23
132
1.82
1.81
4.1
3.9
65.3
66.3
g/l
0.21
18
122
67
505
1.45
1.75
1.6
1.6
1.3
1.3
mmol/l
0.05
61
433
112
928
1.38
1.70
3.2
2.6
98.5
99.0
ug/l
0.01
107
845
219
2041
1.64
1.70
17.9
12.7
24.5
22.1
mg/l
0.47
179
1570
117
979
1.37
1.66
4.6
4.8
0.0
0.0
estimate
0.00
19
201
118
991
1.37
1.63
3.7
3.5
0.0
0.0
estimate
0.50
14
192
21
122
1.79
1.60
2.1
1.5
—
—
—
0
0
163
1443
1.38
1.60
3.7
3.4
—
—
—
0
0
227
2141
1.74
1.60
10.9
9.8
25.8
26.4
u/l
0.18
222
2076
7
26
2.74
1.59
1.0
1.2
—
—
—
0
0
58
435
1.44
1.55
1.8
1.5
22.4
21.3
nmol/l
0.22
52
369
44
313
1.49
1.54
2.0
2.1
—
—
—
0
0
6
21
2.90
1.51
1.2
1.1
—
—
—
0
0
6
21
2.90
1.51
1.2
1.1
—
—
—
0
0
43
307
1.49
1.48
2.1
2.6
2.4
2.4
mmol/l
0.32
31
269
21
126
1.73
1.45
4.6
5.9
0.7
1.4
mmol/l
0.47
15
94
9
39
2.36
1.44
1.2
1.2
—
—
—
0
0
9
39
2.36
1.44
1.2
1.2
—
—
—
0
0
203
1880
1.45
1.42
5.8
4.5
1.8
1.9
mu/l
0.53
193
1720
12
60
2.05
1.40
1.6
1.4
—
—
—
0
0
6
23
2.65
1.37
1.0
1.4
—
—
—
0
0
5
17
2.98
1.36
1.4
1.2
—
—
—
0
0
20
121
1.71
1.35
1.4
1.4
—
—
—
0
0
13
230
0.54
1.35
12.4
6.7
—
—
—
0
0
23
150
1.59
1.19
1.1
1.2
247.7
153.4
iu/ml
—
7
61
28
194
1.50
1.13
2.2
2.1
—
—
—
0
0
83
692
1.30
1.12
3.6
3.6
104.1
35.9
ng/l
0.39
47
451
10
52
1.96
1.07
1.3
1.2
—
—
—
0
0
13
76
1.75
1.01
1.7
1.8
—
—
—
0
0
108
942
1.26
1.01
3.9
4.1
—
—
—
0
0
7
36
1.97
0.98
1.3
1.1
—
—
—
0
0
7
37
1.92
0.95
1.1
1.2
—
—
—
0
0
18
118
1.57
0.94
4.3
3.5
4.3
4.6
pmol/l
1.20
18
102
13
78
1.70
0.93
1.2
1.4
—
—
—
0
0
13
78
1.70
0.93
1.2
1.4
—
—
—
0
0
13
78
1.70
0.93
1.2
1.4
—
—
—
0
0
13
78
1.70
0.93
1.2
1.4
—
—
—
0
0
25
177
1.46
0.93
3.9
5.5
0.8
1.7
mmol/l
0.40
18
136
33
248
1.38
0.89
2.8
2.3
22.1
22.1
%
0.00
26
217
195
1836
1.29
0.89
13.7
11.4
86.7
85.5
ml/min/173m2
0.28
162
1477
187
1752
1.28
0.88
21.3
15.6
13.4
13.5
%
0.97
181
1728
11
64
1.75
0.87
1.4
1.2
—
—
—
0
0
58
477
1.28
0.86
2.6
2.4
—
—
—
0
0
6
31
1.96
0.85
4.0
8.9
—
248.9
—
0
8
10
57
1.79
0.85
1.1
1.0
—
12.5
—
0
7
17
113
1.54
0.84
1.3
1.4
—
—
—
0
0
187
1760
1.26
0.80
5.8
5.3
38.9
39.2
mmol/mol
0.18
176
1654
44
355
1.29
0.76
1.8
1.7
191892268.8
457.4
pmol/l
0.49
37
299
5
25
2.02
0.73
1.0
1.4
0.3
0.4
nmol/l
—
5
20
201
1915
1.27
0.72
20.8
13.8
38.9
40.3
%
1.30
163
1471
15
101
1.52
0.72
2.0
1.7
—
—
—
0
0
7
40
1.77
0.72
2.9
1.5
—
—
—
0
0
5
27
1.87
0.69
1.2
1.1
—
—
—
0
0
16
111
1.47
0.68
4.6
2.3
33.2
42.9
u/ml
0.20
16
106
11
71
1.57
0.63
1.4
2.3
1.6
1.5
g/l
0.14
11
61
198
1892
1.23
0.63
4.5
4.2
5.8
5.8
mmol/l
0.02
186
1737
55
469
1.22
0.61
5.7
4.6
2.4
2.0
ug/l
0.36
49
411
0
21
0.00
0.60
0.0
1.1
—
—
—
0
0
0
22
0.00
0.59
0.0
1.8
—
—
—
0
0
45
380
1.23
0.55
5.0
4.1
21.0
22.1
%
0.21
22
180
13
91
1.45
0.54
1.4
1.5
—
—
—
0
0
16
118
1.38
0.51
6.6
9.4
24.6
24.8
mmol/l
0.14
16
118
7
45
1.57
0.49
1.0
1.6
—
—
—
0
0
7
45
1.57
0.49
1.7
1.4
—
—
—
0
0
59
520
1.18
0.47
4.3
4.0
15.7
14.0
mg/mmol
0.06
37
321
199
1924
1.18
0.43
4.5
4.1
4.8
4.7
mmol/l
0.87
188
1796
202
1956
1.18
0.42
5.2
4.5
2.8
2.8
mmol/l
0.22
191
1809
0
15
0.00
0.41
0.0
1.0
—
32.8
—
0
8
0
15
0.00
0.41
0.0
1.0
—
535.3
—
0
9
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
0
18
0.00
0.40
0.0
1.0
—
—
—
0
0
0
19
0.00
0.39
0.0
1.1
—
—
—
0
0
5
37
1.36
0.37
1.4
1.2
—
—
—
0
0
191
1848
1.15
0.37
4.0
3.7
1.3
1.3
mmol/l
0.23
181
1710
20
162
1.26
0.37
1.7
1.9
—
—
—
0
0
54
483
1.15
0.36
3.1
3.5
1619.6
1054.2
ng/l
0.30
42
404
13
100
1.32
0.34
1.2
1.4
—
—
—
0
0
197
1915
1.14
0.33
4.4
4.1
1.5
1.5
mmol/l
0.05
184
1775
6
47
1.28
0.32
1.2
1.4
—
43.9
—
0
7
7
52
1.36
0.31
5.0
2.7
—
—
—
0
0
8
63
1.28
0.28
1.6
2.3
—
—
—
0
0
10
79
1.28
0.22
2.2
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
5.8
—
0
10
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
0
12
0.00
0.21
0.0
1.4
—
—
—
0
0
0
12
0.00
0.21
0.0
3.8
—
—
—
0
0
0
12
0.00
0.21
0.0
3.9
—
—
—
0
0
0
12
0.00
0.21
0.0
3.9
—
—
—
0
0
45
488
0.90
0.21
2.2
1.6
—
—
—
0
0
23
202
1.15
0.21
1.8
1.6
—
—
—
0
0
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
6
49
1.23
0.20
1.7
1.5
—
—
—
0
0
5
70
0.71
0.17
1.4
1.7
—
—
—
0
0
6
78
0.76
0.16
2.2
1.6
—
—
—
0
0
42
398
1.07
0.10
1.6
1.5
—
—
—
0
0
6
57
1.05
0.08
1.5
1.4
—
9.0
—
0
13
6
75
0.80
0.07
2.0
1.3
—
—
—
0
0
15
163
0.92
0.07
1.3
1.5
—
—
—
0
0
54
528
1.03
0.03
3.9
3.6
0.0
0.0
estimate
0.50
17
197
19
181
1.05
0.03
1.9
4.5
2.5
42.1
ug/l
0.56
11
155
25
243
1.03
0.01
4.0
4.3
31.1
31.5
%
0.07
19
163
17
176
0.96
0.00
3.1
3.2
—
—
—
0
0
28
274
1.02
0.00
3.0
2.7
0.7
0.7
ug/l
0.00
21
176
13
131
0.99
0.00
2.1
3.5
1.2
1.2
mmol/l
0.11
13
115
14
143
0.98
0.00
4.1
2.8
55.7
68.0
ml/min/173m2
—
9
60
75
755
0.99
0.00
3.7
3.4
—
—
—
0
0
7
72
0.97
0.00
1.6
1.9
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
5.0
—
195.9
—
0
7
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
1794.1
—
0
7
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
10.4
—
—
—
0
0
8
87
0.92
0.00
1.4
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
1.4
—
0
5
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
7
75
0.93
0.00
1.7
2.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
9.3
—
0
8
Mortality – FinRegistry
↥Association
Association between endpoint INCREASEDMUSCLETONE and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| INCREASEDMUSCLETONE | 1.498 [1.12, 2.01] | 0.006 |
| Birth year | 0.997 [0.99, 1.01] | 0.455 |
During the follow-up period (1.1.1998 — 31.12.2019), 93 out of 1243 females with INCREASEDMUSCLETONE died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| INCREASEDMUSCLETONE | 1.505 [1.12, 2.02] | 0.006 |
| Birth year | 0.987 [0.98, 1.0] | 0.007 |
During the follow-up period (1.1.1998 — 31.12.2019), 122 out of 1128 males with INCREASEDMUSCLETONE died.
Mortality risk
Mortality risk for people of age
years, who have INCREASEDMUSCLETONE.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.187% | 0.339% |
| 5 | 0.974% | 1.718% |
| 10 | 2.335% | 4.324% |
| 15 | 4.498% | 8.337% |
| 20 | 7.859% | 13.408% |
Relationships between endpoints
↥Index endpoint: INCREASEDMUSCLETONE – Increased muscle tone
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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