hereditary ataxia: A hereditary disorder consisting of degeneration of the cerebellum and/or of the spine; most cases feature both to some extent, and therefore present with overlapping cerebellar and sensory ataxia, even though one is often more evident than the other. Hereditary disorders causing ataxia include autosomal dominant ones such as spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory and cerebellar, with the former predominating) and Niemann Pick disease, ataxia-telangiectasia (sensory and cerebellar, with the latter predominating), and abetalipoproteinaemia. An example of X-linked ataxic condition is the rare fragile X-associated tremor/ataxia syndrome or FXTAS.
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. |
457 |
4. Check minimum number of eventsNone |
457 |
5. Include endpointsNone |
457 |
6. Filter based on genotype QC (FinnGen only) |
457 |
Control definitions (FinnGen only)
- Control exclude
- G6_NEUATR
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G10-G13
- Name in latin
- Ataxia hereditaria
Similar endpoints
↥List of similar endpoints to
Hereditary ataxia
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases, wide definition
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 4821 | 2073 | 2663 |
| Only index persons | 3377 | 1566 | 1811 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.07 | 0.06 | 0.07 |
| Only index persons | 0.06 | 0.06 | 0.07 |
| Median age at first event (years) | |||
| Whole population | 55.02 | 56.38 | 53.71 |
| Only index persons | 53.07 | 54.05 | 52.22 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 457 | 197 | 260 |
| Unadjusted period prevalence (%) | 0.09 | 0.07 | 0.11 |
| Median age at first event (years) | 56.48 | 55.24 | 57.42 |
-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
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
- 418
- Matched controls
- 4180
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
234.0
202
*
G11.2
ICD-10 Finland
Late-onset cerebellar ataxia
+∞
108.1
99
*
R27.0
ICD-10 Finland
Ataxia, unspecified
242.6
79.3
79
*
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
62.0
58
*
G11.4
ICD-10 Finland
Hereditary spastic paraplegia
+∞
42.4
40
*
Z31.5
ICD-10 Finland
Genetic counselling
9.6
31.7
67
81
N99
ICPC
Neurological disease other
28.8
27.6
37
14
N03AE01
ATC
clonazepam; systemic
7.3
23.4
58
90
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.1
22.7
76
173
N29
ICPC
Neurological sympt/complt other
14.0
21.1
36
28
3342A
ICD-9 Finland
Spinocerebellar disease, Primary cerebellar degeneration
+∞
21.0
20
*
G31.9
ICD-10 Finland
Degenerative disease of nervous system, unspecified
81.0
20.9
23
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.4
20.0
63
133
M03BX01
ATC
baclofen; systemic
12.6
19.7
35
30
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.9
18.7
64
148
TAB00
NOMESCO Finland
Lumbar puncture
8.1
18.5
42
57
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
8.1
17.6
40
54
L28
ICPC
Limited function/disability (L)
3.3
16.9
97
353
R1250
NOMESCO Finland
Evaluation of functional capability
12.3
16.8
30
26
N28
ICPC
Limited function/disability (N)
14.2
16.7
28
21
R26.0
ICD-10 Finland
Ataxic gait
31.5
16.3
21
7
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
8.2
14.9
33
43
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
58.9
14.9
17
*
G11.00
ICD-10 Finland
Cerebellar dysplasia and aplasia
+∞
14.7
14
*
R42
ICD-10 Finland
Dizziness and giddiness
2.7
14.4
119
543
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
23.2
14.3
20
9
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.3
14.3
55
143
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.4
13.9
157
845
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.0
13.2
54
149
G11.18
ICD-10 Finland
Early-onset cerebellar ataxia
+∞
12.6
12
*
N03AX12
ATC
gabapentin; oral
2.8
12.4
85
345
3343A
ICD-9 Finland
Spinocerebellar disease, Other cerebellar ataxia
+∞
11.5
11
*
A28
ICPC
Limited function/disability NOS
2.7
11.4
87
373
SPAT1215
SPAT
Assessment of need for medical rehabilitation
5.9
11.3
31
56
R47.1
ICD-10 Finland
Dysarthria and anarthria
20.7
11.2
16
8
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
7.2
10.2
24
35
G40.9
ICD-10 Finland
Epilepsy, unspecified
5.6
9.9
28
53
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
4.5
9.5
33
78
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.2
9.5
35
88
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
102.2
9.5
10
*
3349X
ICD-9 Finland
Spinocerebellar disease, unspecified
+∞
9.4
9
*
N18
ICPC
Paralysis/weakness
8.6
9.2
19
23
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.0
9.1
36
97
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.4
8.8
80
376
SPAT1229
SPAT
Assessment of need for aid
3.1
8.6
46
158
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.6
8.5
62
258
7812A
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Abnormality of gait
91.8
8.4
9
*
G72.9
ICD-10 Finland
Myopathy, unspecified
13.1
8.4
14
11
G11
ICD-10 Finland
Hereditary ataxia
+∞
8.4
8
*
G11.02
ICD-10 Finland
Dysequilibrium syndrome
+∞
8.4
8
*
G82.1
ICD-10 Finland
Spastic paraplegia
+∞
8.4
8
*
N06AA09
ATC
amitriptyline; systemic
2.8
8.1
52
201
G04BD04
ATC
oxybutynin; oral, transdermal
3.4
8.0
38
120
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.3
7.9
81
402
XA800
NOMESCO Finland
Neuropsychological investigation
4.1
7.5
28
72
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.4
7.5
35
109
G35
ICD-10 Finland
Multiple sclerosis
7.9
7.5
16
21
N05BA01
ATC
diazepam; systemic, rectal
2.4
7.3
66
307
G12.2
ICD-10 Finland
Motor neuron disease
+∞
7.3
7
*
ABD40
NOMESCO Finland
Implantation of spinal injection device
+∞
7.3
7
*
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
2.7
7.1
46
180
AA1AD
NOMESCO Finland
CT of head and brain
1.9
7.0
109
644
G04BD07
ATC
tolterodine; oral
3.5
6.9
31
94
R4130
NOMESCO Finland
Speech therapy
5.2
6.9
20
40
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
22.9
6.7
9
*
SPAT1295
SPAT
Other function in accordance with physical therapy nomenclature
3.5
6.7
29
86
N04BB01
ATC
amantadine; oral
8.9
6.6
13
15
R1260
NOMESCO Finland
Evaluation of communicative skills
5.9
6.5
17
30
N04BA02
ATC
levodopa and decarboxylase inhibitor; oral
4.2
6.5
23
57
Z50.1
ICD-10 Finland
Other physical therapy
3.2
6.5
32
105
A06AD11
ATC
lactulose; oral
2.1
6.4
71
365
N06AB04
ATC
citalopram; systemic
2.0
6.3
86
482
G82.2
ICD-10 Finland
Paraplegia, unspecified
27.1
6.2
8
*
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
12.8
6.1
10
8
S82.6
ICD-10 Finland
Fracture of lateral malleolus
3.1
6.1
32
110
N03AF02
ATC
oxcarbazepine; oral
4.3
6.1
21
51
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
183
1093
2.12
13.18
2.4
2.1
242.1
310.1
u/l
0.25
171
1021
14
20
7.19
9.33
1.0
1.0
—
—
—
0
0
208
1431
1.83
9.04
2.2
2.0
90.6
94.6
pmol/l
0.69
117
738
112
669
1.89
7.38
1.7
1.7
1096.3
1184.7
nmol/l
0.44
92
501
15
31
4.97
6.98
1.0
1.1
—
—
—
0
0
16
37
4.44
6.54
1.0
1.1
—
—
—
0
0
59
292
2.17
6.51
1.7
3.0
66.6
66.3
g/l
0.13
53
266
129
855
1.71
5.86
1.6
1.5
20.9
21.0
nmol/l
0.04
111
712
18
50
3.71
5.81
1.0
1.1
1.1
17.1
iu/ml
—
10
8
230
1785
1.58
5.45
6.9
7.7
1.2
1.2
mmol/l
0.46
207
1512
14
39
3.67
4.52
1.0
1.1
—
—
—
0
0
207
1631
1.49
4.23
6.2
7.1
1.2
1.2
mmol/l
0.38
186
1466
301
3402
0.66
4.04
4.7
4.4
1.4
1.4
mmol/l
0.79
283
3115
9
265
0.33
3.69
1.3
1.7
—
—
—
0
0
175
1366
1.46
3.60
2.7
2.4
73.1
76.2
nmol/l
0.74
156
1204
89
603
1.59
3.57
1.9
2.0
—
—
—
0
0
306
3423
0.68
3.57
4.7
4.5
4.5
4.6
mmol/l
0.60
285
3156
12
37
3.30
3.36
1.4
1.2
—
—
—
0
0
315
3488
0.69
3.26
5.1
5.0
2.7
2.7
mmol/l
0.15
287
3191
194
1566
1.41
3.24
5.7
5.0
35.1
35.4
g/l
0.27
176
1459
65
418
1.65
3.22
2.2
1.8
1.6
1.5
%
0.49
58
365
8
15
5.41
3.20
1.5
1.3
—
—
—
0
0
106
765
1.50
3.19
5.2
3.9
1.0
1.0
kg/l
0.24
16
103
296
3300
0.71
3.02
4.2
4.0
1.4
1.3
mmol/l
1.49
275
3007
103
752
1.48
2.91
1.7
1.8
208333774.4
6441666.8
pmol/l
0.76
96
621
70
470
1.58
2.91
22.1
22.3
1.0
1.4
inr
—
7
65
9
22
4.15
2.89
1.6
1.3
—
—
—
0
0
9
22
4.15
2.89
1.6
1.3
—
—
—
0
0
54
341
1.66
2.87
4.5
8.0
1.4
1.4
mmol/l
0.02
47
325
102
746
1.47
2.86
1.3
1.2
0.7
1.3
u/ml
1.78
28
197
8
18
4.50
2.80
1.6
1.3
—
—
—
0
0
8
18
4.50
2.80
1.6
1.3
—
—
—
0
0
41
243
1.75
2.74
2.8
2.4
—
18.6
—
0
11
25
127
2.02
2.66
1.9
2.3
382.5
627.3
ug/l
0.23
25
122
8
20
4.05
2.58
1.3
1.2
—
—
—
0
0
64
435
1.55
2.53
9.0
7.2
—
—
—
0
0
300
3303
0.73
2.49
17.3
13.7
81.9
80.0
ml/min/173m2
0.67
247
2710
57
826
0.65
2.48
2.6
3.0
0.7
0.8
ug/l
0.39
38
553
61
414
1.55
2.43
4.3
9.1
5.3
5.1
kpa
0.72
56
397
61
414
1.55
2.43
4.2
9.1
11.1
11.9
kpa
0.62
56
399
6
13
4.66
2.28
1.0
1.2
—
—
—
0
0
10
36
2.82
2.21
2.7
2.6
—
—
—
0
0
310
3377
0.74
2.21
5.0
4.6
6.0
6.0
mmol/l
0.31
278
3067
60
415
1.51
2.21
4.3
9.1
1.1
1.1
mmol/l
0.06
44
329
7
19
3.72
2.16
1.0
1.0
—
—
—
0
0
370
3913
0.71
2.04
27.7
22.2
132.7
135.6
g/l
3.13
359
3845
241
2120
1.29
1.96
5.9
5.4
6.9
6.7
mmol/l
0.55
226
1984
10
39
2.60
1.93
1.1
1.1
—
—
—
0
0
24
136
1.81
1.91
1.3
2.4
3.8
3.8
g/l
0.02
11
103
24
136
1.81
1.91
1.3
2.4
—
—
—
0
0
24
136
1.81
1.91
1.3
2.4
7.5
7.5
g/l
0.02
12
108
66
481
1.43
1.89
7.2
7.0
1.1
1.1
mmol/l
0.83
61
443
112
892
1.34
1.88
2.3
2.1
2.9
3.1
mg/l
0.57
96
764
59
421
1.46
1.88
1.8
1.9
—
—
—
0
0
39
256
1.57
1.83
4.3
6.0
1.3
1.6
mmol/l
0.15
32
195
298
3235
0.77
1.83
6.7
6.0
41.6
40.2
mmol/mol
1.29
279
2989
5
12
4.20
1.83
1.0
1.1
—
—
—
0
0
5
12
4.20
1.83
1.0
1.1
—
—
—
0
0
268
2944
0.78
1.79
22.2
18.9
14.0
13.7
%
1.21
259
2880
25
147
1.74
1.78
1.8
1.9
—
—
—
0
0
91
1146
0.74
1.77
4.6
4.4
19.4
21.4
%
0.74
40
557
232
2049
1.27
1.76
7.7
10.0
4.5
4.2
e9/l
0.96
195
1778
7
24
2.95
1.73
2.0
2.7
—
—
—
0
0
5
13
3.88
1.72
1.0
1.2
—
—
—
0
0
5
13
3.88
1.72
1.0
1.2
—
—
—
0
0
20
111
1.84
1.71
1.4
1.3
—
—
—
0
0
6
19
3.19
1.66
1.7
1.6
—
—
—
0
0
38
255
1.53
1.64
1.6
1.6
—
—
—
0
0
22
128
1.76
1.63
1.3
2.5
2.7
3.1
g/l
0.97
12
105
16
85
1.91
1.57
1.5
1.4
—
—
—
0
0
40
564
0.68
1.53
1.3
1.5
—
—
—
0
0
5
15
3.36
1.52
1.0
1.1
—
—
—
0
0
21
124
1.73
1.50
1.2
2.5
8.9
10.7
g/l
1.14
14
111
22
133
1.69
1.45
2.0
1.7
—
—
—
0
0
39
273
1.47
1.41
4.5
5.8
5.3
5.1
kpa
0.78
39
251
277
2544
1.23
1.32
3.8
3.7
15.2
14.8
pmol/l
1.46
246
2273
56
425
1.36
1.30
1.8
2.0
—
—
—
0
0
300
3206
0.81
1.29
18.6
16.6
37.5
40.0
%
2.43
172
2281
6
25
2.42
1.24
10.7
2.2
14.3
13.3
%
—
6
25
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
5
19
2.65
1.22
1.0
1.2
—
—
—
0
0
42
561
0.72
1.20
1.2
1.3
38.8
37.9
iu/ml
0.02
11
180
33
232
1.46
1.19
1.8
1.7
—
—
—
0
0
12
65
1.87
1.14
1.2
1.2
—
1.1
—
0
5
16
96
1.69
1.11
1.4
1.9
—
—
—
0
0
48
366
1.35
1.11
5.1
4.9
1.6
1.7
mmol/l
0.08
43
287
39
517
0.73
1.08
1.2
1.3
3.9
13.7
u/ml
1.40
16
181
150
1319
1.20
1.07
4.0
3.3
—
—
—
0
0
100
845
1.23
1.06
2.4
2.4
—
—
—
0
0
17
106
1.63
1.04
3.5
2.3
—
—
—
0
0
187
1682
1.19
1.04
4.4
3.7
0.0
0.0
estimate
0.00
28
310
358
3730
0.81
1.01
12.3
10.8
27.0
26.5
u/l
0.11
339
3596
9
48
1.89
1.01
1.9
1.5
—
—
—
0
0
64
784
0.79
1.00
1.8
2.1
1.2
1.3
mg/l
0.07
46
603
13
76
1.73
1.00
1.5
1.5
—
—
—
0
0
13
76
1.73
1.00
1.5
1.5
—
—
—
0
0
9
50
1.82
0.97
2.0
1.5
—
—
—
0
0
9
50
1.82
0.97
2.0
1.5
—
—
—
0
0
9
50
1.82
0.97
2.0
1.5
—
—
—
0
0
9
50
1.82
0.97
2.0
1.5
—
—
—
0
0
292
2740
1.18
0.95
8.8
7.8
85.1
81.3
u/l
0.44
270
2558
9
51
1.78
0.95
2.0
1.5
—
—
—
0
0
181
1636
1.18
0.93
4.0
4.2
—
—
—
0
0
107
926
1.20
0.90
5.5
3.9
0.0
0.0
estimate
0.50
29
297
125
1413
0.84
0.89
4.8
5.0
2.7
3.0
ug/l
0.19
102
1266
41
318
1.32
0.87
2.8
2.4
4.0
7.5
ug/l
2.02
36
278
126
1113
1.18
0.84
4.3
4.0
21.8
9.8
mg/mmol
0.68
88
719
134
1190
1.18
0.84
4.7
3.5
30.6
33.5
u/l
0.53
127
1133
18
121
1.51
0.84
2.1
2.9
—
—
—
0
0
16
105
1.54
0.82
3.2
3.4
24.0
24.3
mmol/l
0.11
16
90
187
1708
1.16
0.82
4.6
3.8
0.0
0.0
estimate
0.00
28
297
125
1108
1.18
0.80
3.3
2.6
48.5
57.4
u/l
2.94
118
1027
0
25
0.00
0.79
0.0
1.3
—
—
—
0
0
184
1687
1.15
0.76
5.7
5.1
0.0
0.0
estimate
0.00
32
305
339
3524
0.85
0.76
20.7
15.2
28.0
24.0
mg/l
1.10
277
2792
30
228
1.34
0.75
1.6
1.3
—
—
—
0
0
5
24
2.09
0.74
3.2
1.5
0.8
1.0
g/l
—
5
24
14
205
0.67
0.71
1.3
1.2
231.6
133.8
iu/ml
—
5
81
18
126
1.45
0.71
2.8
7.5
8.7
8.3
kpa
0.38
18
113
35
276
1.29
0.69
2.4
3.8
1.2
1.2
mmol/l
0.27
28
238
5
28
1.79
0.66
1.0
1.5
49.2
25.5
u/l
—
5
23
202
1879
1.13
0.66
7.3
6.9
12.5
12.0
umol/l
0.15
191
1783
82
933
0.85
0.63
1.9
1.7
1.4
1.4
mmol/l
0.11
70
782
8
49
1.64
0.62
1.4
1.8
—
—
—
0
0
5
30
1.67
0.61
1.2
1.2
47.0
175.7
u/l
—
5
18
11
72
1.54
0.59
1.2
1.2
—
—
—
0
0
0
23
0.00
0.58
0.0
1.0
—
—
—
0
0
16
115
1.41
0.57
4.4
7.3
1.6
1.5
mg/l
0.12
16
104
5
86
0.58
0.56
1.2
1.5
—
—
—
0
0
11
73
1.52
0.56
1.7
1.4
—
—
—
0
0
158
1460
1.13
0.56
3.0
2.7
108.3
142.3
ug/l
2.02
144
1343
6
38
1.59
0.54
1.0
1.2
141.3
565.9
pmol/l
—
6
32
22
282
0.77
0.54
1.7
2.0
—
—
—
0
0
143
1317
1.12
0.54
5.0
3.9
—
—
—
0
0
67
585
1.17
0.54
2.8
2.4
11.4
13.0
umol/l
0.99
56
541
79
701
1.15
0.52
4.8
3.9
460.2
316.6
ng/l
0.20
58
557
84
938
0.87
0.52
3.2
3.0
10245.7
7296.7
umol/l
0.17
72
806
19
145
1.32
0.49
4.2
8.6
1.3
1.6
%
0.65
14
136
61
535
1.16
0.47
2.9
2.4
2.2
2.3
g/l
0.45
55
493
25
309
0.80
0.47
2.5
2.3
15.9
13.3
nmol/l
0.39
17
280
5
81
0.61
0.46
1.2
1.3
—
—
—
0
0
26
317
0.81
0.44
1.8
2.1
—
—
—
0
0
75
672
1.14
0.44
2.9
3.0
2.5
2.4
mmol/l
1.05
61
592
6
93
0.64
0.42
1.3
2.0
—
—
—
0
0
34
401
0.84
0.42
1.4
1.4
—
—
—
0
0
58
512
1.15
0.42
2.9
2.4
21.5
22.8
%
0.37
46
442
199
2093
0.91
0.42
2.7
3.0
—
—
—
0
0
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
16
0.00
0.41
0.0
4.1
—
—
—
0
0
0
16
0.00
0.41
0.0
4.1
—
—
—
0
0
0
17
0.00
0.40
0.0
6.5
—
35.0
—
0
5
0
17
0.00
0.40
0.0
1.5
—
—
—
0
0
5
34
1.48
0.40
1.0
1.0
—
—
—
0
0
7
102
0.68
0.40
1.4
1.6
—
—
—
0
0
5
35
1.43
0.39
1.0
1.1
—
—
—
0
0
0
19
0.00
0.39
0.0
3.5
—
66.7
—
0
19
6
44
1.37
0.34
1.2
1.0
—
—
—
0
0
6
44
1.37
0.34
1.5
1.8
—
—
—
0
0
6
45
1.34
0.34
1.5
1.6
15.3
17.3
ug/l
—
6
45
7
96
0.73
0.31
1.4
1.5
—
—
—
0
0
7
55
1.28
0.30
1.1
1.1
—
—
—
0
0
125
1180
1.08
0.29
2.9
3.3
2.4
2.3
mmol/l
0.74
104
1032
51
461
1.12
0.28
5.7
7.7
105.0
104.2
mmol/l
0.46
51
452
13
103
1.27
0.28
1.8
1.5
—
—
—
0
0
321
3140
1.07
0.27
4.8
4.5
1.9
2.3
mu/l
0.54
289
2823
23
197
1.18
0.26
2.7
3.2
0.2
0.2
e6/l
0.00
23
189
10
126
0.79
0.24
1.7
5.8
88.0
89.0
%
—
10
121
9
77
1.17
0.24
1.4
1.5
—
—
—
0
0
9
77
1.17
0.24
1.1
1.4
—
—
—
0
0
14
168
0.83
0.23
1.1
1.3
—
—
—
0
0
48
439
1.10
0.23
4.1
4.5
30.8
31.7
%
0.26
34
288
5
40
1.25
0.22
1.2
1.2
—
—
—
0
0
0
11
0.00
0.21
0.0
1.0
—
—
—
0
0
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
2.8
—
0
5
0
10
0.00
0.21
0.0
1.0
—
—
—
0
0
18
154
1.18
0.21
1.1
1.0
—
—
—
0
0
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
12
0.00
0.21
0.0
3.3
—
104.7
—
0
12
35
386
0.90
0.21
4.3
4.6
4.5
39.8
ug/l
1.08
30
331
6
48
1.25
0.20
1.3
1.3
—
—
—
0
0
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
6
52
1.16
0.19
1.2
1.2
—
—
—
0
0
7
60
1.17
0.18
2.0
4.9
—
975.3
—
0
7
136
1408
0.95
0.17
5.3
3.8
31.7
41.7
ng/l
0.37
106
995
5
69
0.72
0.17
1.0
1.9
—
—
—
0
0
5
69
0.72
0.17
1.2
1.7
—
—
—
0
0
6
78
0.77
0.15
1.2
1.2
0.6
1.0
nmol/l
—
6
64
12
102
1.18
0.15
1.1
1.2
—
—
—
0
0
12
102
1.18
0.15
1.1
1.2
—
—
—
0
0
7
89
0.78
0.14
1.0
1.9
180.6
229.8
pmol/l
—
7
83
12
103
1.17
0.14
1.4
1.2
—
—
—
0
0
8
97
0.82
0.14
1.3
1.8
—
—
—
0
0
361
3646
0.95
0.13
22.3
17.9
4.0
4.0
mmol/l
1.29
349
3537
29
267
1.09
0.13
3.1
2.8
57.4
64.9
ml/min/173m2
0.44
11
115
13
113
1.15
0.13
1.1
1.8
—
192.0
—
0
5
105
1014
1.05
0.13
3.8
3.3
0.4
0.5
e6/l
0.50
86
751
66
634
1.05
0.10
3.2
2.8
1.0
1.0
e6/l
0.01
43
364
361
3637
0.96
0.09
22.3
17.7
139.5
139.7
mmol/l
0.41
350
3528
36
380
0.94
0.09
3.6
3.2
—
—
—
0
0
11
124
0.88
0.09
1.8
2.1
1.7
3.7
mg/l
—
5
95
6
58
1.03
0.08
1.5
1.6
—
—
—
0
0
6
70
0.86
0.07
1.8
1.5
—
99.3
—
0
12
6
72
0.83
0.07
1.5
1.4
—
—
—
0
0
13
141
0.92
0.05
2.8
2.0
—
—
—
0
0
232
2302
1.02
0.04
4.6
3.3
56.3
48.9
u/l
0.26
215
2143
11
101
1.09
0.04
1.2
1.1
—
15.8
—
0
12
260
2615
0.99
0.03
4.6
4.1
12.7
12.5
mm/h
0.05
240
2374
10
108
0.92
0.03
1.8
1.9
—
—
—
0
0
11
113
0.97
0.00
2.8
1.9
—
—
—
0
0
45
446
1.01
0.00
5.8
3.2
8.1
9.5
umol/l
0.25
38
397
11
112
0.98
0.00
3.5
2.5
232.0
89.8
ug/min
—
6
63
35
352
0.99
0.00
3.5
2.5
31.6
35.4
u/l
0.41
29
294
112
1117
1.00
0.00
2.8
3.3
1708.4
1427.3
ng/l
0.13
91
952
61
605
1.01
0.00
3.5
3.0
4.4
1.9
e6/l
0.47
39
339
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
9
0.00
0.00
0.0
1.0
—
134.3
—
0
9
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
0.00
0.0
1.6
—
—
—
0
0
0
9
0.00
0.00
0.0
1.0
—
6.8
—
0
9
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
9
91
0.99
0.00
1.2
1.1
—
—
—
0
0
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
4.8
—
150.7
—
0
6
0
6
0.00
0.00
0.0
1.2
—
31.3
—
0
6
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
9
0.00
0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
5
52
0.96
0.00
1.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
8
85
0.94
0.00
1.5
1.3
—
—
—
0
0
8
79
1.01
0.00
1.4
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.4
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
93.7
—
0
6
0
5
0.00
0.00
0.0
6.0
—
—
—
0
0
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint G6_HERATAXIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.78 [2.33, 3.31] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.092 |
During the follow-up period (1.1.1998 — 31.12.2019), 489 out of 1385 females with G6_HERATAXIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_HERATAXIA | 2.804 [2.44, 3.23] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.028 |
During the follow-up period (1.1.1998 — 31.12.2019), 747 out of 1691 males with G6_HERATAXIA died.
Mortality risk
Mortality risk for people of age
years, who have G6_HERATAXIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.192% | 0.608% |
| 5 | 1.332% | 3.537% |
| 10 | 3.554% | 8.971% |
| 15 | 6.657% | 16.761% |
| 20 | 11.625% | 27.207% |
Relationships between endpoints
↥Index endpoint: G6_HERATAXIA – Hereditary ataxia
GWS hits: 3
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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