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

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 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.

307

4. Check minimum number of events

None

307

5. Include endpoints

None

307

6. Filter based on genotype QC (FinnGen only)

302

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 302 118 184
Unadjusted period prevalence (%) 0.07 0.04 0.08
Median age at first event (years) 59.98 55.49 62.86

-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
307
Matched controls
3070
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
167.5
145
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
106.6
96
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
77.4
71
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
11.2
42.4
48
50
N03AE01
ATC
clonazepam; systemic
8.7
40.0
56
77
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.3
34.6
67
130
34899
ICD-8 Finland
Motor neurone disease, Other and unspecified manifestations
+∞
28.6
27
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
27.5
26
*
N99
ICPC
Neurological disease other
46.0
27.4
33
8
TAB00
NOMESCO Finland
Lumbar puncture
6.8
24.4
41
68
G72.9
ICD-10 Finland
Myopathy, unspecified
23.5
18.5
26
12
N07XX02
ATC
riluzole; oral
+∞
16.8
16
*
L28
ICPC
Limited function/disability (L)
3.2
16.7
83
319
SPAT1229
SPAT
Assessment of need for aid
4.5
16.4
44
111
J96.1
ICD-10 Finland
Chronic respiratory failure
7.4
15.9
24
35
N28
ICPC
Limited function/disability (N)
14.4
14.5
24
18
Z31.5
ICD-10 Finland
Genetic counselling
5.0
12.9
29
63
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
33.6
12.7
16
5
M03BX01
ATC
baclofen; systemic
10.7
11.7
22
22
G13.0
ICD-10 Finland
Paraneoplastic neuromyopathy and neuropathy
+∞
11.5
11
*
3352A
ICD-9 Finland
Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]
+∞
11.5
11
*
3351X
ICD-9 Finland
Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]
+∞
11.5
11
*
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
45.0
11.0
13
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
10.7
33
92
34898
ICD-8 Finland
Motor neurone disease, Alii definiti
+∞
10.5
10
*
G62.8
ICD-10 Finland
Other specified polyneuropathies
15.3
10.1
16
11
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
8.1
10.1
22
29
NXL00
NOMESCO Finland
Biopsy of muscle
41.5
10.0
12
*
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.8
9.9
23
51
R1250
NOMESCO Finland
Evaluation of functional capability
7.4
9.2
21
30
R47.1
ICD-10 Finland
Dysarthria and anarthria
11.2
8.9
16
15
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.4
8.9
23
56
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
51.5
8.7
10
*
G13.2*E03.9
ICD-10 Finland
Systemic atrophy primarily affecting central nervous system in myxoedema
+∞
8.4
8
*
Z50.1
ICD-10 Finland
Other physical therapy
3.7
8.3
27
78
N02AE01
ATC
buprenorphine; parenteral, sublingual, transdermal
2.6
8.2
54
236
N29
ICPC
Neurological sympt/complt other
8.1
8.0
17
22
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
3.0
7.9
36
129
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.0
7.7
35
125
G71.08
ICD-10 Finland
Other muscular dystrophy
82.0
7.4
8
*
R13
ICD-10 Finland
Dysphagia
3.0
7.4
35
128
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.3
7.4
63
309
M62.5
ICD-10 Finland
Muscle wasting and atrophy, not elsewhere classified
30.8
7.2
9
*
TAW99
NOMESCO Finland
Other minor neurosurgical procedure
41.0
6.8
8
*
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.5
6.7
46
204
N03AX12
ATC
[U] gabapentin; oral
2.2
6.6
61
309
JDB10
NOMESCO Finland
Percutaneous gastrostomy
8.4
6.4
13
16
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
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
22
42
5.57
11.24
1.5
1.2
—
—
—
0
0
46
157
3.27
11.01
2.4
2.4
—
6.96
—
0
8
20
48
4.39
7.86
4.1
4.1
—
—
—
0
0
14
15
9.72
7.36
1.8
1.3
—
—
—
0
0
10
10
10.29
5.57
1.3
1.0
1.87
1.77
mmol/l
—
10
10
10
17
6.04
4.16
1.4
1.1
—
—
—
0
0
36
183
2.10
3.82
2.2
2.8
—
—
—
0
0
15
50
3.10
3.74
2.9
2.2
17.90
15.71
%
—
10
25
76
509
1.66
3.38
4.9
3.1
557.97
559.49
mosm/kgh2o
0.02
65
436
33
172
2.03
3.29
4.2
3.4
7.41
7.41
ph
—
5
17
202
2303
0.64
3.25
4.9
5.2
2.75
2.65
mmol/l
0.78
178
2108
24
114
2.20
3.03
3.5
3.0
0.68
0.66
%
0.11
24
114
47
284
1.77
3.02
1.4
1.3
420.00
462.86
titre
—
8
63
198
2255
0.66
3.00
4.5
4.6
4.66
4.52
mmol/l
1.06
178
2080
14
52
2.77
2.93
3.4
2.3
—
—
—
0
0
24
117
2.14
2.86
3.5
3.1
1.10
1.16
%
0.14
24
117
197
2238
0.67
2.84
4.4
4.6
1.47
1.43
mmol/l
0.48
175
2048
40
639
0.57
2.82
1.6
1.7
1.27
1.34
mmol/l
0.30
33
535
187
2137
0.68
2.67
7.2
6.2
39.99
40.64
mmol/mol
0.48
169
1981
234
2558
0.64
2.65
28.7
22.6
4.43
4.48
e12/l
0.58
229
2473
234
2558
0.64
2.65
28.6
22.7
6.88
6.81
e9/l
0.14
228
2474
115
890
1.47
2.61
4.2
3.7
5.79
5.87
ph
—
7
63
58
390
1.60
2.51
3.0
3.6
0.83
0.83
mmol/l
0.02
53
367
33
190
1.83
2.49
3.4
3.6
4.40
4.31
kpa
0.12
33
181
53
767
0.63
2.48
3.3
3.2
7.08
7.63
mmol/l
0.44
41
642
235
2557
0.65
2.42
28.1
22.7
39.19
40.05
%
1.00
222
2378
24
126
1.98
2.38
3.9
3.6
—
—
—
0
0
51
735
0.63
2.33
3.4
3.2
1133.34
315.18
mg/l
0.32
35
486
138
1641
0.71
2.27
3.9
4.2
—
—
—
0
0
72
520
1.50
2.27
4.0
2.7
6.99
4.56
e6/l
0.53
65
468
192
2160
0.70
2.26
4.2
4.2
1.36
1.27
mmol/l
0.86
172
1961
201
2243
0.70
2.25
5.0
4.8
5.88
6.02
mmol/l
1.30
183
2043
8
25
3.26
2.11
2.0
1.2
—
—
—
0
0
36
226
1.67
2.05
3.7
4.6
2.98
1.77
mmol/l
1.23
31
181
36
227
1.66
2.02
3.8
4.6
6.00
5.75
kpa
0.84
36
219
21
112
1.94
2.02
1.0
1.2
63.92
129.37
iu/ml
—
5
44
136
1127
1.37
1.98
6.9
5.1
0.00
0.00
estimate
-0.00
30
226
5
11
4.60
1.95
1.0
3.5
29.40
28.73
umol/l
—
5
11
9
33
2.78
1.94
1.8
1.9
12.33
16.86
ug/l
—
9
33
143
1198
1.36
1.93
8.3
7.2
1.21
1.21
mmol/l
0.16
116
1010
88
682
1.41
1.90
4.9
3.4
0.29
0.46
e6/l
0.70
78
515
91
712
1.40
1.86
3.5
3.0
—
—
—
0
0
71
532
1.44
1.85
1.8
1.8
498.19
22045892.11
pmol/l
0.79
63
440
137
1146
1.35
1.84
5.0
3.8
0.00
0.00
estimate
-0.00
28
212
5
12
4.22
1.83
1.0
1.6
141.40
138.08
nmol/l
—
5
12
9
35
2.62
1.81
2.9
1.5
—
—
—
0
0
15
75
2.05
1.72
4.0
5.2
—
—
—
0
0
134
1130
1.33
1.67
4.9
3.8
0.00
0.00
estimate
-0.00
35
246
81
635
1.37
1.62
4.8
3.4
—
—
—
0
0
9
38
2.41
1.47
4.7
2.6
59.67
59.29
%
—
9
38
5
16
3.16
1.44
1.0
1.1
3.32
0.53
u/ml
—
5
6
6
22
2.76
1.44
3.7
1.7
1.35
0.93
e9/l
—
6
17
60
771
0.72
1.44
4.7
3.8
2.72
8.49
mg/mmol
3.90
41
497
81
650
1.33
1.39
4.4
3.3
—
—
—
0
0
15
82
1.87
1.38
10.3
11.1
—
—
—
0
0
5
17
2.97
1.36
1.0
1.9
84.20
80.94
umol/l
—
5
17
88
718
1.32
1.34
4.5
4.3
—
—
—
0
0
225
2407
0.76
1.33
19.5
14.4
—
—
—
0
0
6
24
2.53
1.31
1.8
1.4
—
—
—
0
0
5
18
2.81
1.29
1.0
1.1
—
—
—
0
0
11
55
2.04
1.29
2.1
1.5
—
—
—
0
0
5
116
0.42
1.28
3.6
2.9
—
—
—
0
0
9
167
0.53
1.23
1.2
1.3
—
—
—
0
0
87
717
1.30
1.23
4.6
4.2
7.39
7.40
ph
0.24
22
138
47
612
0.73
1.22
3.0
3.1
0.93
0.78
ug/l
0.90
33
409
136
1187
1.26
1.21
15.1
15.0
1.21
1.28
inr
0.51
38
335
16
94
1.74
1.20
5.3
4.4
—
—
—
0
0
24
158
1.56
1.19
5.5
2.6
3.84
5.83
e9/l
0.60
18
125
30
208
1.49
1.18
4.7
4.6
1.67
0.78
%
0.47
12
86
101
853
1.27
1.17
5.7
4.0
49.71
89.77
e6/l
0.77
87
621
28
192
1.50
1.16
4.9
4.7
0.36
0.10
%
0.43
11
70
159
1419
1.25
1.15
5.4
5.1
6.61
6.78
mmol/l
0.49
149
1320
60
481
1.31
1.04
1.8
1.7
1249.58
1197.88
nmol/l
0.16
53
360
7
34
2.08
1.03
1.4
1.3
—
—
—
0
0
64
518
1.30
1.03
5.0
4.1
1.02
1.02
kg/l
0.06
15
66
19
123
1.58
1.02
1.3
1.7
—
—
—
0
0
7
37
1.91
0.94
1.3
1.4
—
—
—
0
0
7
37
1.91
0.94
2.0
2.2
—
—
—
0
0
92
1063
0.81
0.94
5.4
5.3
26.55
2.89
ug/l
0.93
87
934
19
126
1.54
0.93
5.1
4.3
—
—
—
0
0
116
1019
1.22
0.93
10.6
10.2
0.00
0.00
e9/l
0.42
105
844
87
746
1.23
0.87
5.6
3.5
37.98
155.11
e6/l
0.73
77
580
8
45
1.80
0.85
5.0
3.7
—
—
—
0
0
49
396
1.28
0.81
4.6
3.3
1.89
1.65
e6/l
0.13
36
229
25
182
1.41
0.81
4.3
4.9
0.00
0.18
%
—
8
60
6
33
1.83
0.79
1.5
2.0
35.17
34.06
pg
—
6
33
140
1269
1.19
0.78
5.5
6.6
11.75
11.85
umol/l
0.02
132
1196
135
1220
1.19
0.78
6.7
5.9
0.20
0.19
e9/l
0.08
128
1085
32
245
1.34
0.77
1.9
2.6
72.52
67.89
e9/l
0.35
26
196
0
28
0.00
0.76
0.0
3.0
—
—
—
0
0
9
53
1.72
0.76
5.2
6.0
—
—
—
0
0
9
54
1.69
0.75
1.2
1.2
—
—
—
0
0
28
212
1.35
0.73
1.3
1.4
—
—
—
0
0
54
448
1.25
0.73
1.4
1.4
2.45
2.61
g/l
0.24
42
268
7
40
1.77
0.71
2.4
3.0
108.71
105.07
mmol/l
—
7
40
7
40
1.77
0.71
2.4
3.0
—
—
—
0
0
7
40
1.77
0.71
2.4
3.0
3.93
4.15
mmol/l
—
7
40
74
638
1.21
0.70
5.4
4.0
0.00
0.00
estimate
-0.00
30
215
18
249
0.71
0.70
1.1
1.5
—
—
—
0
0
39
315
1.27
0.66
6.0
7.1
102.56
104.19
mmol/l
1.10
39
315
44
361
1.26
0.66
1.3
1.3
1.03
13.03
u/ml
2.33
19
144
5
29
1.74
0.64
2.2
1.3
85.84
89.36
%
—
5
29
223
2330
0.84
0.64
20.2
15.5
26.03
24.42
mg/l
0.25
194
1877
35
281
1.28
0.63
2.5
1.7
—
—
—
0
0
5
30
1.68
0.61
1.8
1.2
—
—
—
0
0
179
1678
1.16
0.61
4.2
3.7
15.16
14.79
pmol/l
1.22
169
1491
120
1093
1.16
0.60
7.2
6.5
—
—
—
0
0
24
307
0.76
0.58
1.3
1.3
—
—
—
0
0
26
204
1.30
0.56
6.5
8.7
—
—
—
0
0
108
983
1.15
0.54
2.2
2.0
92.75
94.44
pmol/l
0.12
60
519
6
39
1.55
0.53
6.3
2.9
0.83
1.24
%
—
6
34
6
39
1.55
0.53
7.0
2.3
4.16
4.96
e9/l
—
6
39
65
572
1.17
0.50
6.7
7.3
—
—
—
0
0
117
1076
1.14
0.50
2.8
2.7
—
—
—
0
0
53
459
1.19
0.49
2.3
3.1
2.44
2.45
mmol/l
0.06
48
396
43
365
1.21
0.49
1.4
1.3
28.81
36.65
iu/ml
0.25
11
117
127
1178
1.13
0.48
6.2
5.7
0.56
0.59
e9/l
0.97
119
1035
22
273
0.79
0.44
1.3
1.5
—
—
—
0
0
127
1183
1.13
0.44
6.3
5.7
0.04
0.04
e9/l
0.56
118
1046
129
1203
1.12
0.44
6.6
5.8
1.72
1.97
e9/l
1.26
121
1082
23
281
0.80
0.41
1.4
1.5
—
—
—
0
0
0
15
0.00
0.41
0.0
1.2
—
11.20
—
0
5
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
17
0.00
0.41
0.0
2.0
—
9.53
—
0
17
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
3.5
—
—
—
0
0
71
645
1.13
0.37
3.6
2.8
10456.59
8506.02
umol/l
0.10
63
548
6
41
1.47
0.36
8.5
2.9
62.83
58.59
%
—
6
41
9
125
0.71
0.35
1.2
1.2
—
—
—
0
0
6
42
1.44
0.35
1.2
1.6
—
—
—
0
0
107
999
1.11
0.35
4.0
3.9
89.89
43.85
ng/l
0.56
85
735
72
785
0.89
0.34
3.5
3.1
—
—
—
0
0
80
736
1.12
0.34
2.5
2.5
—
—
—
0
0
12
155
0.77
0.34
1.3
1.3
—
—
—
0
0
56
505
1.13
0.33
1.8
1.8
1.83
1.44
mg/l
0.20
45
399
23
193
1.21
0.32
4.0
3.7
—
—
—
0
0
53
478
1.13
0.31
1.2
1.2
0.79
0.92
u/ml
0.33
16
123
70
644
1.11
0.30
2.2
2.1
3.22
3.06
mg/l
0.17
59
560
144
1374
1.09
0.29
9.3
9.5
4.31
4.14
e9/l
0.30
135
1213
14
112
1.26
0.29
8.7
9.1
1.53
1.54
%
0.02
14
107
67
617
1.11
0.28
1.7
1.6
17.84
20.36
nmol/l
1.00
61
520
82
764
1.10
0.28
4.9
4.0
—
—
—
0
0
23
197
1.18
0.26
4.4
3.5
—
—
—
0
0
56
513
1.11
0.26
4.4
3.9
—
—
—
0
0
8
67
1.20
0.26
6.8
4.2
2.22
1.63
mg/l
—
8
60
5
74
0.67
0.26
1.0
1.1
—
—
—
0
0
22
189
1.18
0.25
3.6
4.5
2.75
0.46
%
—
8
73
9
76
1.19
0.25
1.0
1.1
—
—
—
0
0
5
38
1.32
0.23
1.0
2.7
—
—
—
0
0
115
1097
1.08
0.23
8.1
6.3
1.20
1.21
mmol/l
0.73
107
986
23
263
0.86
0.23
1.3
1.3
—
—
—
0
0
5
39
1.29
0.23
2.6
3.1
82.80
33.73
u/ml
—
5
39
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
—
1.53
—
0
11
0
11
0.00
0.21
0.0
1.1
—
3.80
—
0
11
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
1.0
—
—
—
0
0
113
1081
1.07
0.21
7.0
5.7
0.62
0.63
%
0.14
108
1015
0
13
0.00
0.21
0.0
9.2
—
0.62
—
0
13
0
13
0.00
0.21
0.0
2.0
—
—
—
0
0
0
14
0.00
0.20
0.0
1.4
—
1.11
—
0
14
32
289
1.12
0.20
8.4
8.8
3.04
1.23
mmol/l
1.79
24
227
6
52
1.16
0.19
1.3
1.3
9.98
8.88
u/l
—
6
40
88
923
0.93
0.18
2.3
2.2
—
—
—
0
0
21
237
0.88
0.18
5.0
3.8
—
—
—
0
0
7
61
1.15
0.17
1.9
2.2
9.71
12.95
mg/l
—
7
56
11
93
1.19
0.14
1.5
1.2
—
—
—
0
0
20
179
1.13
0.14
1.1
1.1
—
—
—
0
0
29
315
0.91
0.14
1.2
1.3
—
—
—
0
0
14
122
1.15
0.14
1.4
1.3
—
—
—
0
0
164
1603
1.05
0.14
5.3
4.1
—
—
—
0
0
14
159
0.87
0.13
1.1
1.4
—
—
—
0
0
206
2094
0.95
0.13
5.2
4.5
1.85
1.96
mu/l
0.69
193
1881
11
94
1.18
0.13
2.7
2.0
—
—
—
0
0
15
168
0.89
0.12
3.3
2.6
—
—
—
0
0
15
134
1.13
0.11
11.5
12.7
—
—
—
0
0
5
47
1.06
0.09
2.8
2.9
—
—
—
0
0
55
572
0.95
0.09
1.4
1.4
—
—
—
0
0
30
318
0.94
0.08
1.3
1.7
—
—
—
0
0
22
205
1.08
0.08
1.8
1.4
—
—
—
0
0
6
70
0.85
0.07
1.7
1.2
—
—
—
0
0
19
178
1.07
0.06
10.2
6.8
—
—
—
0
0
38
367
1.04
0.05
2.3
2.1
—
—
—
0
0
20
210
0.95
0.04
1.6
1.5
—
—
—
0
0
39
400
0.97
0.03
2.1
2.0
29.59
29.24
s
0.24
39
389
97
981
0.98
0.02
3.0
2.7
291.57
144.25
ug/l
0.96
89
899
18
172
1.05
0.02
1.4
1.4
—
—
—
0
0
46
469
0.98
0.02
3.0
3.7
63.17
259.29
ng/l
1.47
35
376
112
1110
1.01
0.02
7.2
5.7
2.59
2.90
%
0.95
107
1042
152
1510
1.01
0.02
3.2
3.1
50.58
51.19
u/l
0.02
139
1404
12
127
0.94
0.01
1.3
1.7
1.76
1.48
g/l
0.48
12
113
13
137
0.95
0.01
2.3
2.4
—
—
—
0
0
176
1759
1.00
0.00
5.0
4.0
13.29
13.07
mm/h
0.06
161
1602
13
125
1.04
0.00
1.1
1.2
759.08
166.80
u/ml
0.91
13
110
29
294
0.98
0.00
2.1
3.2
5.09
8.60
umol/l
2.35
23
262
0
9
0.00
0.00
0.0
2.4
—
40700.00
—
0
9
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.4
—
—
—
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
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
3.2
—
1.06
—
0
5
0
5
0.00
-0.00
0.0
10.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
2.1
—
10752.29
—
0
7
7
69
1.01
-0.00
1.0
1.1
—
—
—
0
0
0
7
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
1.2
—
—
—
0
0
5
53
0.94
-0.00
1.4
1.5
—
—
—
0
0
0
5
0.00
-0.00
0.0
10.8
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
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
7
71
0.99
-0.00
1.3
1.5
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
5
59
0.84
-0.00
1.2
1.1
—
—
—
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
7
76
0.92
-0.00
3.1
3.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.4
—
—
—
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
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