Other and unspecified spinal muscular atrophies

G6_SPINAMUSCOTH

spinal muscular atrophy: Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.

Suggest a new description

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 G12.8, G12.9, G13*
  • Hospital discharge: ICD-9 335
  • Hospital discharge: ICD-8 34829|3489
  • Hospital discharge: excluded ICD-9 3350A|3351A|3352A
  • Cause of death: ICD-10 G12.8, G12.9, G13*
  • Cause of death: ICD-9 335
  • Cause of death: ICD-8 34829|3489

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_NEUATR

Extra metadata

Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2

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 3434 1501 1850
Only index persons 1766 795 971
Unadjusted period prevalence (%)
Whole population 0.05 0.04 0.05
Only index persons 0.03 0.03 0.04
Median age at first event (years)
Whole population 60.57 61.22 59.94
Only index persons 56.32 57.03 55.75

-FinnGen-

Key figures

All Female Male
Number of individuals 294 112 182
Unadjusted period prevalence (%) 0.06 0.04 0.08
Median age at first event (years) 59.86 55.49 62.55

-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
272
Matched controls
2720
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
143.9
125
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
94.4
85
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
65.3
60
*
34899
ICD-8 Finland
Motor neurone disease, Other and unspecified manifestations
+∞
26.5
25
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
24.3
23
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
13.2
23.1
41
36
N03AE01
ATC
clonazepam; systemic
8.4
22.2
51
73
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.2
18.9
54
105
G72.9
ICD-10 Finland
Myopathy, unspecified
35.7
18.3
23
7
TAB00
NOMESCO Finland
Lumbar puncture
9.9
17.8
36
41
N99
ICPC
Neurological disease other
17.0
14.2
22
14
N07XX02
ATC
riluzole; oral
+∞
12.6
12
*
3352A
ICD-9 Finland
Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]
+∞
11.5
11
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
29.4
10.8
14
5
R1250
NOMESCO Finland
Evaluation of functional capability
12.0
10.2
18
16
N03AX12
ATC
gabapentin; oral
3.3
10.0
54
189
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.3
9.7
36
93
L28
ICPC
Limited function/disability (L)
2.9
9.6
64
261
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
+∞
9.4
9
*
3351X
ICD-9 Finland
Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]
+∞
9.4
9
*
34898
ICD-8 Finland
Motor neurone disease, Alii definiti
+∞
9.4
9
*
G13.0
ICD-10 Finland
Paraneoplastic neuromyopathy and neuropathy
+∞
9.4
9
*
N28
ICPC
Limited function/disability (N)
10.1
9.4
18
19
M03BX01
ATC
baclofen; systemic
9.9
8.4
16
17
J96.1
ICD-10 Finland
Chronic respiratory failure
7.2
8.2
19
28
R47.1
ICD-10 Finland
Dysarthria and anarthria
12.2
8.2
14
12
N29
ICPC
Neurological sympt/complt other
9.4
8.2
16
18
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
46.3
7.8
9
*
NXL00
NOMESCO Finland
Biopsy of muscle
25.8
7.6
10
*
Z50.1
ICD-10 Finland
Other physical therapy
4.6
7.6
25
58
G71.08
ICD-10 Finland
Other muscular dystrophy
82.2
7.5
8
*
M62.5
ICD-10 Finland
Muscle wasting and atrophy, not elsewhere classified
82.2
7.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
7.4
58
258
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
7.3
7
*
SPAT1229
SPAT
Assessment of need for aid
3.2
7.1
37
128
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
6.9
27
74
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
7.5
6.8
15
21
R25.3
ICD-10 Finland
Fasciculation
41.1
6.8
8
*
R13
ICD-10 Finland
Dysphagia
3.5
6.4
29
90
G13.2*E03.9
ICD-10 Finland
Systemic atrophy primarily affecting central nervous system in myxoedema
+∞
6.3
6
*
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
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
42
147
3.17
9.64
2.4
2.4
—
4.6
—
0
6
12
15
8.30
8.92
1.4
1.1
—
—
—
0
0
10
11
9.38
8.13
1.3
1.0
1.9
1.8
mmol/l
—
10
11
20
47
4.49
8.07
4.1
4.2
—
—
—
0
0
17
43
4.13
6.26
1.6
1.2
—
—
—
0
0
15
49
3.17
3.86
2.9
2.2
17.9
15.7
%
—
10
25
33
169
2.07
3.45
4.2
3.5
7.4
7.4
ph
—
5
17
9
18
5.12
3.39
1.3
1.1
—
—
—
0
0
192
2200
0.63
3.30
4.9
5.2
2.7
2.7
mmol/l
0.75
169
2009
33
175
2.00
3.15
2.3
2.6
—
—
—
0
0
14
51
2.83
3.03
3.4
2.3
—
—
—
0
0
177
2047
0.66
2.95
7.5
6.2
40.1
40.7
mmol/mol
0.37
159
1894
221
2436
0.63
2.87
28.8
22.9
6.9
6.8
e9/l
0.32
215
2357
221
2436
0.63
2.87
28.8
22.8
4.4
4.5
e12/l
0.26
216
2356
189
2152
0.66
2.85
4.5
4.6
4.6
4.5
mmol/l
0.95
169
1981
70
480
1.60
2.82
4.9
2.9
571.7
559.9
mosm/kgh2o
0.16
59
408
44
267
1.76
2.80
1.4
1.3
420.0
470.0
titre
—
8
60
188
2136
0.67
2.71
4.4
4.6
1.5
1.4
mmol/l
0.37
166
1950
129
1572
0.68
2.68
3.9
4.2
—
—
—
0
0
22
107
2.14
2.65
2.4
3.2
1.1
1.2
%
0.23
22
107
49
730
0.61
2.64
3.3
3.2
6.8
7.6
mmol/l
0.77
37
610
24
123
2.04
2.54
3.9
3.7
—
—
—
0
0
39
609
0.59
2.52
1.6
1.7
1.3
1.3
mmol/l
0.35
32
511
16
70
2.36
2.46
3.2
3.1
8.6
8.2
kpa
0.39
16
60
70
497
1.54
2.41
4.0
2.7
6.8
4.7
e6/l
0.41
62
436
31
178
1.83
2.37
2.6
3.7
4.4
4.4
kpa
0.07
31
170
87
650
1.48
2.35
4.9
3.3
0.2
0.5
e6/l
1.65
77
488
48
699
0.63
2.31
3.5
3.2
1201.8
329.5
mg/l
0.33
33
459
191
2142
0.69
2.30
5.1
4.8
5.9
6.0
mmol/l
1.10
173
1948
183
2064
0.70
2.24
4.2
4.1
1.4
1.3
mmol/l
0.74
163
1871
34
213
1.67
1.96
3.1
4.6
3.1
1.8
mmol/l
1.22
28
167
5
11
4.60
1.95
1.0
1.6
141.4
127.7
nmol/l
—
5
11
34
214
1.67
1.93
3.1
4.6
6.0
5.7
kpa
0.91
34
207
35
224
1.64
1.87
3.1
4.6
—
—
—
0
0
5
12
4.22
1.83
1.0
3.3
29.4
30.0
umol/l
—
5
12
20
109
1.90
1.82
1.1
1.2
63.9
129.4
iu/ml
—
5
44
7
25
2.84
1.66
2.0
1.2
—
—
—
0
0
128
1076
1.34
1.65
7.1
5.0
0.0
0.0
estimate
0.00
28
220
14
70
2.05
1.62
4.2
5.1
—
—
—
0
0
79
620
1.37
1.58
4.4
3.3
—
—
—
0
0
15
78
1.97
1.57
10.3
11.1
—
—
—
0
0
67
513
1.40
1.55
1.8
1.8
511.5
22717065.9
pmol/l
0.79
59
427
56
735
0.71
1.55
5.1
3.9
2.9
8.2
mg/mmol
3.30
38
473
8
33
2.46
1.55
1.4
2.6
58.8
58.9
%
—
8
33
84
669
1.36
1.53
3.6
3.0
—
—
—
0
0
129
1095
1.32
1.53
5.1
3.8
0.0
0.0
estimate
0.00
26
206
6
21
2.89
1.51
1.8
1.4
—
—
—
0
0
134
1150
1.30
1.44
8.3
7.1
1.2
1.2
mmol/l
0.15
106
962
6
22
2.76
1.44
3.7
1.7
1.4
0.8
e9/l
—
6
8
126
1074
1.30
1.42
4.9
3.8
0.0
0.0
estimate
0.00
28
219
214
2296
0.75
1.35
19.4
14.5
—
—
—
0
0
24
153
1.62
1.33
5.5
2.7
3.7
3.8
e9/l
0.12
17
117
98
816
1.30
1.30
5.8
4.0
49.8
93.2
e6/l
0.83
85
595
60
465
1.36
1.29
1.8
1.7
1249.6
1202.1
nmol/l
0.14
53
349
5
18
2.81
1.29
1.0
1.2
—
—
—
0
0
8
160
0.49
1.28
1.1
1.3
—
—
—
0
0
8
35
2.32
1.28
3.0
1.5
—
—
—
0
0
83
685
1.29
1.17
4.5
4.4
—
—
—
0
0
5
111
0.44
1.15
3.6
2.9
—
—
—
0
0
62
492
1.33
1.15
5.0
4.1
1.0
1.0
kg/l
0.03
14
65
7
30
2.36
1.13
2.0
1.8
10.6
16.9
ug/l
—
7
30
15
89
1.72
1.10
5.7
4.4
—
—
—
0
0
74
607
1.29
1.09
5.1
3.4
—
—
—
0
0
87
1024
0.79
1.09
5.3
5.3
28.0
2.9
ug/l
0.93
82
898
7
32
2.22
1.09
1.4
1.3
—
—
—
0
0
46
588
0.74
1.06
3.1
3.1
0.9
0.8
ug/l
0.95
32
392
85
715
1.27
1.02
5.6
3.5
38.3
155.7
e6/l
0.70
75
557
18
115
1.60
1.02
5.3
4.2
—
—
—
0
0
10
54
1.88
0.98
2.2
1.5
—
—
—
0
0
7
36
1.97
0.97
1.3
1.4
—
—
—
0
0
9
50
1.82
0.97
1.2
1.3
—
—
—
0
0
181
1953
0.81
0.97
18.0
16.9
38.0
39.6
%
0.87
105
1341
20
291
0.66
0.97
1.4
1.3
—
—
—
0
0
28
203
1.42
0.91
4.8
4.6
1.8
0.8
%
0.54
11
71
26
187
1.43
0.89
4.9
4.8
0.4
0.1
%
—
10
63
210
2219
0.81
0.84
20.5
15.7
26.1
24.5
mg/l
0.22
181
1787
43
340
1.31
0.84
1.3
1.3
1.0
13.9
u/ml
2.31
18
134
0
26
0.00
0.79
0.0
3.2
—
—
—
0
0
149
1362
1.19
0.76
5.3
5.1
6.6
6.8
mmol/l
0.93
137
1270
80
690
1.22
0.76
4.7
4.0
7.4
7.4
ph
0.27
20
133
17
242
0.68
0.76
1.1
1.5
—
—
—
0
0
133
1206
1.19
0.74
5.2
6.6
11.9
11.8
umol/l
0.01
125
1139
34
265
1.32
0.74
2.6
1.8
—
—
—
0
0
7
38
1.86
0.74
2.4
3.1
3.9
4.1
mmol/l
—
7
38
7
38
1.86
0.74
2.4
3.1
—
—
—
0
0
7
38
1.86
0.74
2.4
3.1
108.7
105.0
mmol/l
—
7
38
109
973
1.19
0.72
12.9
9.7
1.3
1.2
inr
0.03
30
276
108
965
1.19
0.71
10.5
10.3
0.0
0.0
e9/l
0.42
98
801
7
41
1.72
0.70
1.3
4.0
—
—
—
0
0
57
481
1.23
0.67
6.1
5.6
—
—
—
0
0
42
342
1.27
0.67
1.4
1.3
28.8
38.4
iu/ml
0.31
11
110
5
28
1.80
0.66
2.2
1.3
85.8
89.3
%
—
5
28
30
235
1.31
0.64
1.9
2.6
73.0
67.6
e9/l
0.40
24
189
5
29
1.74
0.64
1.8
1.2
—
—
—
0
0
25
192
1.33
0.61
5.4
8.3
—
—
—
0
0
26
201
1.32
0.61
1.3
1.5
—
—
—
0
0
8
51
1.58
0.61
5.8
5.0
—
—
—
0
0
70
613
1.19
0.57
5.6
4.0
0.0
0.0
estimate
0.00
28
209
8
122
0.65
0.56
1.3
1.2
—
—
—
0
0
6
37
1.63
0.56
7.0
2.3
4.2
5.0
e9/l
—
6
37
70
615
1.18
0.55
3.6
2.8
10618.7
8032.4
umol/l
0.13
62
518
23
178
1.32
0.55
4.3
4.9
0.0
0.2
%
—
7
55
20
259
0.76
0.54
1.3
1.5
—
—
—
0
0
6
39
1.55
0.53
6.3
2.9
0.8
1.3
%
—
6
29
6
39
1.55
0.53
8.5
2.9
62.8
58.7
%
—
6
39
24
302
0.78
0.53
1.3
1.7
—
—
—
0
0
24
302
0.78
0.53
1.2
1.3
—
—
—
0
0
51
439
1.20
0.51
2.4
3.1
2.4
2.4
mmol/l
0.24
46
378
23
181
1.29
0.50
4.0
3.7
—
—
—
0
0
169
1596
1.14
0.49
4.2
3.7
15.1
14.8
pmol/l
0.91
159
1418
81
728
1.16
0.49
4.9
4.0
—
—
—
0
0
126
1168
1.14
0.49
6.9
5.9
0.2
0.2
e9/l
0.18
119
1041
15
112
1.36
0.45
1.3
1.8
—
—
—
0
0
61
541
1.16
0.44
6.8
7.2
—
—
—
0
0
5
32
1.57
0.42
1.2
2.0
35.4
34.3
pg
—
5
32
19
238
0.78
0.42
12.3
9.4
126.5
120.7
g/l
0.48
19
233
0
15
0.00
0.41
0.0
1.5
—
—
—
0
0
8
59
1.37
0.41
1.3
1.2
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
0
16
0.00
0.41
0.0
3.6
—
—
—
0
0
0
16
0.00
0.41
0.0
1.3
—
—
—
0
0
5
35
1.44
0.39
1.0
2.7
—
—
—
0
0
5
36
1.40
0.38
2.6
3.3
82.8
35.4
u/ml
—
5
36
22
267
0.81
0.38
1.5
1.5
—
—
—
0
0
6
42
1.44
0.35
1.2
1.6
—
—
—
0
0
82
754
1.12
0.35
5.9
5.6
—
—
—
0
0
101
941
1.11
0.35
2.1
2.0
93.9
95.0
pmol/l
0.07
53
496
23
191
1.22
0.34
4.4
3.6
—
—
—
0
0
21
252
0.82
0.33
1.2
1.3
—
—
—
0
0
11
141
0.77
0.30
1.4
1.3
—
—
—
0
0
7
56
1.26
0.29
1.9
2.1
9.7
13.1
mg/l
—
7
51
102
959
1.10
0.29
4.0
3.9
92.9
44.9
ng/l
0.54
80
698
67
618
1.11
0.28
2.2
2.1
3.3
3.1
mg/l
0.24
56
535
47
425
1.13
0.27
1.4
1.4
2.6
2.6
g/l
0.10
36
253
50
548
0.89
0.27
1.4
1.4
—
—
—
0
0
5
72
0.69
0.26
1.0
1.1
—
—
—
0
0
9
72
1.26
0.26
1.0
1.1
—
—
—
0
0
118
1126
1.08
0.24
6.4
5.7
0.6
0.6
e9/l
0.49
110
988
53
488
1.10
0.23
4.6
3.9
—
—
—
0
0
35
387
0.89
0.22
2.1
2.0
29.7
29.2
s
0.33
35
377
110
1050
1.08
0.22
8.0
6.2
1.2
1.2
mmol/l
0.50
102
939
107
1021
1.08
0.21
4.7
4.4
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
3.8
—
0
11
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
0
12
0.00
0.21
0.0
8.1
—
0.6
—
0
12
120
1151
1.07
0.21
6.7
5.9
1.7
2.0
e9/l
1.08
111
1029
0
13
0.00
0.21
0.0
2.0
—
—
—
0
0
118
1132
1.07
0.20
6.5
5.7
0.0
0.0
e9/l
0.60
110
1000
0
14
0.00
0.20
0.0
1.4
—
1.1
—
0
14
0
14
0.00
0.20
0.0
1.2
—
11.2
—
0
5
6
49
1.23
0.20
1.3
1.2
10.0
8.4
u/l
—
6
37
13
154
0.84
0.19
1.2
1.4
—
—
—
0
0
42
454
0.91
0.18
3.1
3.8
69.5
268.9
ng/l
1.39
31
362
71
749
0.93
0.17
3.5
3.1
—
—
—
0
0
79
751
1.07
0.17
2.8
3.4
2.3
2.3
mmol/l
0.24
74
655
74
703
1.07
0.17
2.6
2.5
—
—
—
0
0
195
1989
0.94
0.16
5.1
4.5
1.8
2.0
mu/l
1.07
182
1784
62
588
1.07
0.15
1.7
1.6
17.9
20.4
nmol/l
0.86
56
495
19
170
1.13
0.14
1.1
1.1
—
—
—
0
0
18
201
0.89
0.14
1.7
1.6
—
—
—
0
0
51
483
1.07
0.13
1.8
1.8
1.9
1.5
mg/l
0.19
41
384
134
1308
1.04
0.12
9.2
9.5
4.4
4.1
e9/l
0.41
125
1155
14
157
0.89
0.11
3.3
2.5
—
—
—
0
0
21
229
0.91
0.11
5.0
3.9
—
—
—
0
0
10
87
1.15
0.09
1.6
1.2
—
—
—
0
0
106
1034
1.04
0.09
7.2
5.9
0.6
0.6
%
0.25
101
971
155
1524
1.04
0.09
5.5
4.1
—
—
—
0
0
85
873
0.96
0.08
2.3
2.1
—
—
—
0
0
21
195
1.08
0.08
1.8
1.4
—
—
—
0
0
10
88
1.14
0.08
2.8
1.9
—
—
—
0
0
7
66
1.06
0.08
1.0
1.1
—
—
—
0
0
6
71
0.84
0.07
3.7
3.3
—
—
—
0
0
20
186
1.08
0.07
3.5
4.5
3.1
0.4
%
—
7
51
13
118
1.11
0.07
1.4
1.3
—
—
—
0
0
47
453
1.04
0.07
1.2
1.2
0.8
1.0
u/ml
0.45
15
114
12
131
0.91
0.05
13.8
12.5
—
—
—
0
0
12
110
1.09
0.05
9.8
9.3
1.5
1.6
%
0.18
12
105
92
935
0.98
0.04
3.1
2.7
299.4
145.6
ug/l
0.94
84
855
18
170
1.06
0.04
10.5
7.0
—
—
—
0
0
29
280
1.04
0.03
9.0
8.6
3.1
1.2
mmol/l
1.58
21
221
34
350
0.97
0.03
2.4
2.1
—
—
—
0
0
105
1062
0.98
0.03
7.4
5.9
2.6
2.9
%
0.68
100
997
12
127
0.94
0.01
2.4
2.4
—
—
—
0
0
17
164
1.04
0.00
1.4
1.4
—
—
—
0
0
12
122
0.98
0.00
1.3
1.8
1.8
1.5
g/l
0.53
12
110
12
119
1.01
0.00
1.1
1.2
821.1
172.5
u/ml
0.93
12
106
28
281
1.00
0.00
2.0
3.2
5.1
8.7
umol/l
2.31
22
251
168
1679
1.00
0.00
5.0
4.0
13.5
13.2
mm/h
0.09
153
1526
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
5
53
0.94
0.00
1.4
1.5
—
—
—
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
5
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
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
12.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
3.2
—
1.1
—
0
5
0
8
0.00
0.00
0.0
2.3
—
—
—
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
6
0.00
0.00
0.0
2.2
—
12496.2
—
0
6
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
6
66
0.91
0.00
1.7
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
2.4
—
—
—
0
0
5
59
0.84
0.00
1.2
1.1
—
—
—
0
0
7
70
1.00
0.00
1.3
1.5
—
—
—
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
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
12.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint G6_SPINAMUSCOTH and mortality.

Females

Parameter HR [95% CI] p-value
G6_SPINAMUSCOTH 5.729 [4.42, 7.42] < 0.001
Birth year 0.993 [0.98, 1.0] 0.129

During the follow-up period (1.1.1998 — 31.12.2019), 309 out of 670 females with G6_SPINAMUSCOTH died.

Males

Parameter HR [95% CI] p-value
G6_SPINAMUSCOTH 3.826 [3.06, 4.79] < 0.001
Birth year 0.986 [0.98, 1.0] 0.004

During the follow-up period (1.1.1998 — 31.12.2019), 340 out of 805 males with G6_SPINAMUSCOTH died.

Mortality risk

Mortality risk for people of age

years, who have G6_SPINAMUSCOTH.

N-year risk Females Males
1 0.497% 0.723%
5 3.225% 3.906%
10 6.97% 10.02%
15 14.373% 18.355%
20 23.91% 30.396%

Relationships between endpoints

Index endpoint: G6_SPINAMUSCOTH – Other and unspecified spinal muscular atrophies

GWS hits: 9

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