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
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
519972 |
1. Apply sex-specific ruleNone |
519972 |
2. Check conditionsNone |
519972 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
483 |
4. Check minimum number of eventsNone |
483 |
5. Include endpointsNone |
483 |
6. Filter based on genotype QC (FinnGen only) |
466 |
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:
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 | 466 | 201 | 265 |
| Unadjusted period prevalence (%) | 0.10 | 0.07 | 0.12 |
| Median age at first event (years) | 57.27 | 56.26 | 58.04 |
-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
↥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
- 483
- Matched controls
- 4830
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G11.9
ICD-10 Finland
Hereditary ataxia, unspecified
+∞
262.1
227
*
G11.2
ICD-10 Finland
Late-onset cerebellar ataxia
+∞
131.4
120
*
R27.0
ICD-10 Finland
Ataxia, unspecified
257.7
102.9
102
5
N99
ICPC
Neurological disease other
44.7
86.5
52
13
G11.8
ICD-10 Finland
Other hereditary ataxias
+∞
79.4
74
*
Z31.5
ICD-10 Finland
Genetic counselling
10.3
73.4
90
105
N28
ICPC
Limited function/disability (N)
21.2
62.3
48
25
N29
ICPC
Neurological sympt/complt other
18.3
61.6
51
31
M03BX01
ATC
baclofen; systemic
16.0
50.0
44
30
G11.4
ICD-10 Finland
Hereditary spastic paraplegia
+∞
49.9
47
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
8.6
42.1
57
74
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
6.4
40.2
73
131
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.3
37.9
86
190
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
9.5
35.1
43
49
N03AE01
ATC
clonazepam; systemic
5.8
34.3
69
136
R1250
NOMESCO Finland
Evaluation of functional capability
10.1
34.0
40
43
R26.0
ICD-10 Finland
Ataxic gait
95.2
24.9
27
*
L28
ICPC
Limited function/disability (L)
3.1
24.8
129
504
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.2
24.3
71
190
TAB00
NOMESCO Finland
Lumbar puncture
5.2
23.5
51
107
Z50.9
ICD-10 Finland
Care involving use of rehabilitation procedure, unspecified
6.0
23.2
43
78
3342A
ICD-9 Finland
Spinocerebellar disease, Primary cerebellar degeneration
+∞
23.1
22
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
3.7
21.7
77
236
G31.9
ICD-10 Finland
Degenerative disease of nervous system, unspecified
45.6
21.6
26
6
R42
ICD-10 Finland
Dizziness and giddiness
2.7
21.0
150
690
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.5
20.5
197
1043
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.0
20.4
63
175
A28
ICPC
Limited function/disability NOS
2.8
20.2
123
519
N18
ICPC
Paralysis/weakness
8.1
19.7
27
35
NA2BG
NOMESCO Finland
Thoracal spine MRI examination with high intensity magnet
6.9
19.0
30
46
G11.18
ICD-10 Finland
Early-onset cerebellar ataxia
+∞
18.9
18
*
NA1BG
NOMESCO Finland
Cervical spine MRI examination with high intensity magnet
4.6
18.8
47
111
G31.2
ICD-10 Finland
Degeneration of nervous system due to alcohol
15.7
15.0
24
16
R56.8
ICD-10 Finland
Other and unspecified convulsions
4.1
14.9
43
113
R47.1
ICD-10 Finland
Dysarthria and anarthria
14.8
14.7
24
17
G11.00
ICD-10 Finland
Cerebellar dysplasia and aplasia
+∞
14.7
14
*
H55
ICD-10 Finland
Nystagmus and other irregular eye movements
28.2
14.4
19
7
SPAT1215
SPAT
Assessment of need for medical rehabilitation
4.6
14.0
34
78
AA1AD
NOMESCO Finland
CT of head and brain
2.2
13.9
156
857
N03AX12
ATC
[U] gabapentin; oral
2.4
13.4
105
493
SPAT1229
SPAT
Assessment of need for aid
3.3
12.8
52
172
R4130
NOMESCO Finland
Speech therapy
5.2
12.6
26
52
3343A
ICD-9 Finland
Spinocerebellar disease, Other cerebellar ataxia
+∞
12.6
12
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
133.3
12.5
13
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.4
12.2
94
437
G35
ICD-10 Finland
Multiple sclerosis
13.0
11.7
20
16
G82.1
ICD-10 Finland
Spastic paraplegia
+∞
11.5
11
*
G40.9
ICD-10 Finland
Epilepsy, unspecified
4.1
11.0
31
80
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
10.6
75
334
3349X
ICD-9 Finland
Spinocerebellar disease, unspecified
+∞
10.5
10
*
7812A
ICD-9 Finland
Symptoms involving nervous and musculoskeletal systems, Abnormality of gait
+∞
10.5
10
*
GD1QA
NOMESCO Finland
Supine thorax X-ray examination
2.2
10.1
104
544
N06AA09
ATC
amitriptyline; systemic
2.6
10.0
59
241
XKC03
NOMESCO Finland
Water cystometry
4.4
10.0
25
59
XA800
NOMESCO Finland
Neuropsychological investigation
3.7
9.8
31
87
N02BF01
ATC
gabapentin; oral
2.8
9.5
49
186
R25.1
ICD-10 Finland
Tremor, unspecified
4.5
9.4
23
53
G11.02
ICD-10 Finland
Dysequilibrium syndrome
+∞
9.4
9
*
G11
ICD-10 Finland
Hereditary ataxia
+∞
9.4
9
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
4.7
9.4
22
49
R1260
NOMESCO Finland
Evaluation of communicative skills
5.2
9.2
19
38
111
Kela drug reimbursment
Epilepsy and comparable convulsive disorders
3.1
9.1
38
128
N03AG01
ATC
valproic acid; systemic, rectal
3.0
9.1
40
139
Z3226
NOMESCO Finland
Physiotherapist
2.1
8.8
100
542
NH1AA
NOMESCO Finland
Ankle X-ray examination without contrast
2.9
8.6
41
149
R4120
NOMESCO Finland
Occupational therapy
2.9
8.4
41
151
N07XX02
ATC
riluzole; oral
+∞
8.4
8
*
G72.9
ICD-10 Finland
Myopathy, unspecified
11.0
8.3
15
14
N05BA01
ATC
diazepam; systemic, rectal
2.2
8.3
74
364
F32.9
ICD-10 Finland
Depressive episode, unspecified
2.3
8.2
63
290
SPAT1220
SPAT
Assessment of need for rehabilitation and/or rehabilitation plan
2.9
8.2
38
136
S01EC01
ATC
acetazolamide; systemic
4.3
8.1
21
51
UKC02
NOMESCO Finland
Cystoscopy
2.0
8.1
93
505
G04BD07
ATC
tolterodine; oral
3.0
8.0
35
121
WYA30
NOMESCO Finland
Treatment of a patient needing special arrangements
2.6
8.0
47
191
N04BA02
ATC
levodopa and decarboxylase inhibitor; oral
3.4
7.9
29
90
W19
ICD-10 Finland
Unspecified fall
2.4
7.8
55
244
G04BD12
ATC
mirabegron; oral
2.2
7.8
68
331
SPAT1217
SPAT
Assessment of need for services (elderly/care support)
2.6
7.8
46
188
N05CD07
ATC
temazepam; oral
2.2
7.7
71
354
XKD06
NOMESCO Finland
Physiologic investigation of micturition
3.6
7.6
25
72
NA3BG
NOMESCO Finland
Lumbar spine MRI examination with high intensity magnet
2.4
7.6
54
240
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
18.7
7.6
11
6
R2120
NOMESCO Finland
Counselling and guidance concerning rehabilitation services and social security
12.1
7.6
13
11
SPAT1167
SPAT
Insertion of urinary catheter
3.7
7.4
23
64
N03AF02
ATC
oxcarbazepine; oral
3.6
7.4
24
69
G12.2
ICD-10 Finland
Motor neuron disease
+∞
7.3
7
*
ABD40
NOMESCO Finland
Implantation of spinal injection device
+∞
7.3
7
*
R5110, ,
SPAT
2.8
7.3
36
134
Z01.8
ICD-10 Finland
Other specified special examinations
1.9
7.3
109
647
N06AX21
ATC
duloxetine; oral
2.3
7.2
60
286
G04BD04
ATC
oxybutynin; oral, transdermal
2.6
7.2
41
164
G25.0
ICD-10 Finland
Essential tremor
3.9
7.2
21
56
NA7DG
NOMESCO Finland
Spine and spinal cord very extensive MRI examination with high intensity magnet
8.1
7.2
15
19
G04BD09
ATC
trospium; oral
4.2
7.1
19
47
GD1PA
NOMESCO Finland
X-ray examination of the lungs in one projection
2.2
7.0
59
283
S82.6
ICD-10 Finland
Fracture of lateral malleolus
2.8
7.0
36
137
Z3229
NOMESCO Finland
Other healthcare associate professional
2.4
7.0
50
224
T36
ICD-10 Finland
Poisoning by systemic antibiotics
3.3
6.9
26
82
Z50.1
ICD-10 Finland
Other physical therapy
2.8
6.9
34
126
SPAT1234
SPAT
Support of social functional capacity
3.0
6.9
30
104
SPAT1216
SPAT
Assessment of functional ability
2.0
6.9
77
413
N06AG02
ATC
moclobemide; oral
3.2
6.8
27
88
NXL00
NOMESCO Finland
Biopsy of muscle
22.9
6.7
9
*
N06AB04
ATC
citalopram; systemic
1.8
6.5
101
604
I69.3
ICD-10 Finland
Sequelae of cerebral infarction
2.3
6.4
52
245
A06AD11
ATC
lactulose; oral
1.9
6.4
84
475
H54.2
ICD-10 Finland
Moderate visual impairment, binocular
14.5
6.4
10
7
N39.4
ICD-10 Finland
Other specified urinary incontinence
2.4
6.4
46
206
C07AA05
ATC
propranolol; systemic
1.9
6.4
96
568
N39.0
ICD-10 Finland
Urinary tract infection, site not specified
2.0
6.4
75
409
Z2446
NOMESCO Finland
Social worker
2.4
6.4
42
181
L99
ICPC
Musculoskeletal disease other
5.6
6.4
17
31
3348X
ICD-9 Finland
Spinocerebellar disease, Other spinocerebellar diseases
+∞
6.3
6
*
N86
ICPC
Multiple sclerosis
27.1
6.2
8
*
SPAT1231
SPAT
Assessment of adjustments needed in living environment
5.2
6.2
18
36
TKC22
NOMESCO Finland
Catheterisation instruction
3.9
6.1
18
48
F10.09
ICD-10 Finland
Alcohol intoxication UNS
4.2
6.1
16
39
XCW99
NOMESCO Finland
Other investigative procedure of eye
2.2
6.1
55
271
Z00.4
ICD-10 Finland
General psychiatric examination, not elsewhere classified
2.3
6.1
44
198
TNH33
NOMESCO Finland
Custom moulded brace, ankle or foot
6.2
6.0
15
25
R30.1
ICD-10 Finland
Vesical tenesmus
5.7
6.0
16
29
L19
ICPC
Muscle symptom/complaint NOS
4.0
6.0
17
44
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
200
1143
2.28
16.72
2.4
2.1
232.51
303.90
u/l
0.29
188
1070
19
8
24.65
13.88
1.1
1.1
15.93
16.01
umol/l
—
19
8
230
1508
2.00
12.45
2.1
2.0
90.15
94.39
pmol/l
0.78
130
782
22
38
6.02
12.37
1.0
1.1
—
—
—
0
0
19
21
9.37
9.60
1.0
1.0
—
—
—
0
0
20
41
5.05
9.39
1.1
1.1
—
—
—
0
0
66
305
2.35
8.57
1.6
3.1
67.06
66.35
g/l
0.39
60
278
21
51
4.26
8.07
1.0
1.1
1.09
17.13
iu/ml
—
11
8
144
906
1.84
8.07
1.6
1.5
20.38
21.00
nmol/l
0.17
124
757
119
705
1.91
8.04
1.6
1.7
1085.55
1179.05
nmol/l
0.51
99
534
30
101
3.10
7.21
3.8
3.5
29.55
35.62
umol/l
1.09
25
92
18
33
5.62
6.67
1.0
1.1
—
—
—
0
0
13
17
7.82
6.16
1.0
1.1
0.97
0.98
u/l
—
6
12
246
1894
1.61
6.15
6.9
7.7
1.22
1.21
mmol/l
0.79
221
1617
220
1723
1.51
4.66
6.3
7.1
1.22
1.21
mmol/l
0.63
198
1559
30
130
2.39
4.53
1.9
2.3
341.90
624.50
ug/l
0.31
30
125
115
792
1.59
4.32
1.3
1.2
0.74
1.28
u/ml
1.80
29
215
210
1650
1.48
4.28
5.5
5.0
35.46
35.43
g/l
0.03
192
1539
322
3628
0.66
4.20
4.8
4.5
1.41
1.44
mmol/l
0.52
303
3330
95
634
1.62
4.04
1.9
2.0
—
—
—
0
0
186
1445
1.47
3.93
2.6
2.4
73.46
76.31
nmol/l
0.68
165
1275
9
15
6.09
3.83
2.7
2.9
40188.89
35967.00
ug/l
—
9
15
327
3650
0.68
3.74
4.7
4.5
4.51
4.58
mmol/l
0.68
305
3370
9
16
5.71
3.67
1.4
1.3
—
—
—
0
0
71
451
1.67
3.66
2.3
1.8
1.74
1.49
%
0.94
64
395
111
792
1.52
3.51
1.7
1.7
194175196.97
6107309.33
pmol/l
0.76
103
655
58
354
1.73
3.46
4.6
8.0
1.33
1.37
mmol/l
0.12
53
347
337
3716
0.69
3.29
5.1
5.0
2.69
2.71
mmol/l
0.16
308
3406
29
143
2.09
3.28
1.2
2.7
—
—
—
0
0
13
39
3.40
3.24
1.1
1.1
—
—
—
0
0
10
24
4.23
3.21
1.2
1.2
—
—
—
0
0
316
3517
0.71
3.17
4.2
4.0
1.37
1.29
mmol/l
1.18
294
3214
110
808
1.47
3.00
5.1
3.9
1.02
1.02
kg/l
0.11
17
110
12
37
3.30
2.95
1.4
1.2
—
—
—
0
0
69
461
1.58
2.92
8.6
7.0
—
—
—
0
0
11
281
0.38
2.79
1.4
1.7
—
—
—
0
0
8
19
4.26
2.69
1.0
1.0
—
—
—
0
0
9
24
3.80
2.68
1.6
1.3
—
—
—
0
0
9
24
3.80
2.68
1.6
1.3
—
—
—
0
0
8
20
4.05
2.57
1.6
1.3
—
—
—
0
0
8
20
4.05
2.57
1.6
1.3
—
—
—
0
0
62
887
0.65
2.51
2.7
3.0
0.67
0.79
ug/l
0.64
42
586
257
2232
1.32
2.42
5.8
5.5
6.86
6.71
mmol/l
0.54
240
2095
6
12
5.05
2.41
1.0
1.1
—
—
—
0
0
6
12
5.05
2.41
1.0
1.1
—
—
—
0
0
250
2174
1.31
2.28
7.8
10.0
4.46
4.15
e9/l
1.08
211
1889
6
13
4.66
2.28
1.0
1.2
—
—
—
0
0
6
13
4.66
2.28
1.0
1.2
—
—
—
0
0
63
437
1.51
2.27
4.4
9.2
5.31
5.08
kpa
0.68
58
419
63
437
1.51
2.27
4.4
9.2
11.05
11.88
kpa
0.71
58
422
213
1813
1.31
2.27
6.5
6.6
26.02
27.49
%
0.99
198
1699
121
948
1.37
2.26
2.3
2.1
2.82
3.13
mg/l
0.75
104
811
323
3519
0.75
2.22
17.1
13.6
81.73
80.18
ml/min/173m2
0.53
268
2900
43
276
1.61
2.17
4.0
5.9
1.38
1.57
mmol/l
0.12
35
210
332
3599
0.75
2.17
5.0
4.6
6.03
5.99
mmol/l
0.22
299
3278
27
154
1.80
2.08
1.7
1.9
—
—
—
0
0
62
438
1.48
2.06
4.5
9.3
0.88
1.16
mmol/l
0.21
46
349
209
1793
1.29
2.04
6.3
6.3
58.75
57.31
%
0.93
195
1681
62
443
1.46
1.95
1.8
1.9
—
—
—
0
0
6
16
3.78
1.94
1.0
1.1
—
—
—
0
0
318
3447
0.77
1.90
6.6
6.0
41.27
40.19
mmol/mol
0.94
297
3186
21
115
1.86
1.86
3.0
2.1
—
—
—
0
0
396
4162
0.73
1.83
27.3
22.1
132.71
135.75
g/l
3.52
385
4090
98
1228
0.75
1.82
4.9
4.4
19.17
21.43
%
0.99
45
589
396
4161
0.73
1.82
27.1
22.0
4.43
4.50
e12/l
1.87
378
4034
298
3249
0.78
1.82
21.7
18.4
15.42
15.04
%
0.45
289
3192
396
4159
0.73
1.79
26.9
22.0
259.14
244.87
e9/l
3.63
381
4043
69
512
1.41
1.78
7.5
6.9
1.11
1.07
mmol/l
0.81
64
473
208
1808
1.26
1.76
16.6
14.6
1.19
1.29
inr
0.90
51
513
396
4157
0.74
1.75
26.9
22.2
38.99
40.28
%
2.70
356
3877
24
140
1.75
1.75
2.0
1.7
—
—
—
0
0
5
13
3.87
1.72
1.0
1.2
—
—
—
0
0
42
600
0.67
1.69
1.3
1.5
—
—
—
0
0
10
40
2.53
1.67
2.7
2.6
—
—
—
0
0
17
90
1.92
1.67
1.5
1.4
—
—
—
0
0
298
2716
1.25
1.63
3.7
3.8
15.23
14.78
pmol/l
1.78
265
2431
5
14
3.60
1.62
1.0
1.1
1390.60
1288.93
miu/ml
—
5
14
7
26
2.72
1.58
2.0
2.7
—
—
—
0
0
6
20
3.02
1.58
1.5
1.6
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
6
20
3.02
1.58
1.0
1.2
—
—
—
0
0
14
71
2.00
1.55
1.2
1.2
—
1.08
—
0
5
20
115
1.77
1.55
1.4
1.3
—
—
—
0
0
110
897
1.29
1.54
2.3
2.4
—
—
—
0
0
15
80
1.90
1.46
1.5
1.5
—
—
—
0
0
15
80
1.90
1.46
1.5
1.5
—
—
—
0
0
39
271
1.48
1.45
1.6
1.5
—
—
—
0
0
161
1385
1.24
1.44
3.9
3.3
—
—
—
0
0
5
16
3.15
1.44
1.6
3.4
227.00
223.13
u/l
—
5
16
197
1736
1.23
1.41
2.5
2.7
—
—
—
0
0
59
447
1.36
1.38
1.8
2.0
—
—
—
0
0
35
244
1.47
1.30
1.8
1.7
—
—
—
0
0
313
2909
1.22
1.25
8.5
7.7
85.18
81.33
u/l
0.49
291
2721
6
26
2.32
1.19
10.7
2.2
14.25
13.33
%
—
6
26
10
51
1.98
1.12
1.8
1.5
—
—
—
0
0
132
1512
0.83
1.10
5.0
5.0
2.62
2.91
ug/l
0.19
109
1360
135
1172
1.21
1.08
3.2
2.6
49.59
61.30
u/l
1.91
127
1090
43
558
0.75
1.03
1.2
1.3
3.76
13.40
u/ml
1.52
17
196
10
53
1.91
1.02
1.9
1.5
—
—
—
0
0
10
53
1.91
1.02
1.9
1.5
—
—
—
0
0
10
53
1.91
1.02
1.9
1.5
—
—
—
0
0
10
53
1.91
1.02
1.9
1.5
—
—
—
0
0
47
599
0.76
1.00
1.2
1.3
36.39
37.11
iu/ml
0.01
12
195
10
54
1.87
0.97
1.9
1.5
—
—
—
0
0
9
50
1.81
0.97
1.3
1.8
—
—
—
0
0
143
1263
1.19
0.95
4.5
3.5
30.59
33.21
u/l
0.49
135
1201
173
1554
1.18
0.94
3.0
2.7
108.37
139.98
ug/l
1.82
159
1432
135
1188
1.19
0.93
4.1
3.8
21.11
9.43
mg/mmol
0.72
94
766
85
1001
0.82
0.93
1.9
1.7
1.33
1.38
mmol/l
0.28
73
838
75
623
1.24
0.93
2.9
2.4
12.23
12.95
umol/l
0.37
66
580
13
78
1.69
0.92
1.2
1.2
—
—
—
0
0
218
1998
1.17
0.92
7.0
6.8
12.35
11.97
umol/l
0.10
207
1898
16
102
1.59
0.91
1.4
1.9
—
—
—
0
0
383
3972
0.83
0.91
12.2
10.8
27.04
26.58
u/l
0.12
364
3831
43
335
1.31
0.88
2.7
2.4
3.79
7.62
ug/l
2.41
38
293
19
128
1.50
0.87
2.2
2.9
—
—
—
0
0
13
80
1.64
0.85
1.6
1.4
—
—
—
0
0
6
31
1.95
0.84
1.2
1.3
133.07
154.13
pmol/l
—
6
31
196
1794
1.16
0.82
4.5
3.7
0.00
0.00
estimate
0.50
33
348
68
569
1.23
0.80
3.0
2.4
2.23
2.32
g/l
0.57
62
524
0
24
0.00
0.79
0.0
1.2
—
—
—
0
0
0
25
0.00
0.79
0.0
1.3
—
—
—
0
0
135
1205
1.17
0.79
5.1
3.1
7.31
7.63
mmol/l
0.37
116
1005
31
235
1.34
0.78
1.6
1.4
—
—
—
0
0
65
547
1.22
0.73
3.0
2.4
23.14
22.74
%
0.09
53
473
138
1242
1.16
0.72
2.7
3.3
2.37
2.35
mmol/l
0.78
111
1092
19
134
1.44
0.72
2.7
7.3
8.63
8.43
kpa
0.20
19
129
71
827
0.83
0.71
1.7
2.0
1.11
1.24
mg/l
0.15
52
639
5
26
1.93
0.71
3.2
1.5
0.83
0.98
g/l
—
5
26
110
975
1.17
0.70
5.4
3.9
0.00
0.01
estimate
0.50
30
312
16
111
1.46
0.66
1.3
1.4
210.36
283.08
ug/g
0.81
11
63
5
28
1.79
0.66
1.6
2.2
0.23
0.14
e9/l
—
5
20
196
1818
1.13
0.65
4.6
3.7
0.00
0.00
estimate
-0.00
29
314
5
29
1.73
0.64
1.0
1.5
49.18
25.02
u/l
—
5
24
193
1792
1.13
0.63
5.9
5.1
0.00
0.00
estimate
-0.00
33
321
80
699
1.17
0.62
2.8
3.1
2.47
2.45
mmol/l
0.74
65
615
23
300
0.76
0.62
1.7
2.0
—
—
—
0
0
0
21
0.00
0.60
0.0
3.2
—
65.81
—
0
21
55
469
1.19
0.57
4.2
4.5
30.97
31.52
%
0.17
39
313
5
88
0.56
0.56
1.2
1.3
—
—
—
0
0
17
124
1.38
0.56
4.5
7.0
1.70
1.49
mg/l
0.31
17
113
43
358
1.22
0.56
2.5
2.1
358.16
380.12
nmol/l
0.36
38
328
210
2228
0.90
0.54
2.7
2.9
—
—
—
0
0
6
96
0.62
0.52
1.3
2.0
—
—
—
0
0
90
1002
0.87
0.52
3.1
3.0
9254.04
6816.52
umol/l
0.15
80
866
27
335
0.79
0.51
1.8
2.1
—
—
—
0
0
83
741
1.15
0.50
4.6
3.9
438.18
310.16
ng/l
0.18
61
589
36
430
0.82
0.49
1.3
1.4
—
—
—
0
0
7
106
0.66
0.49
1.4
1.6
—
—
—
0
0
7
45
1.56
0.49
1.4
1.9
—
—
—
0
0
27
332
0.80
0.48
2.4
2.3
16.34
13.16
nmol/l
0.54
19
304
7
47
1.50
0.47
1.1
1.0
—
—
—
0
0
364
3737
0.89
0.46
20.0
15.1
28.02
23.92
mg/l
1.20
296
2962
150
1396
1.11
0.46
5.0
3.8
—
—
—
0
0
5
84
0.59
0.46
1.2
1.5
—
—
—
0
0
35
293
1.21
0.45
2.4
3.9
1.22
1.22
mmol/l
0.29
28
254
7
50
1.41
0.45
1.3
1.1
1.57
1.40
g/l
—
7
45
345
3348
1.11
0.44
4.8
4.5
1.93
2.31
mu/l
0.51
312
3018
11
78
1.42
0.43
1.5
1.4
249.80
268.73
u/ml
—
5
41
0
15
0.00
0.41
0.0
1.1
—
—
—
0
0
0
17
0.00
0.40
0.0
4.0
—
—
—
0
0
0
17
0.00
0.40
0.0
4.0
—
—
—
0
0
5
34
1.48
0.40
1.0
1.0
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
—
—
0
0
7
101
0.69
0.40
1.4
1.5
—
—
—
0
0
17
215
0.78
0.40
1.2
1.2
178.03
127.70
iu/ml
—
7
87
0
19
0.00
0.39
0.0
5.9
—
35.00
—
0
5
14
107
1.32
0.37
1.4
1.2
—
—
—
0
0
11
81
1.37
0.36
1.5
1.4
—
—
—
0
0
15
117
1.29
0.35
1.1
1.8
—
192.00
—
0
5
73
664
1.12
0.35
3.3
2.8
0.92
0.97
e6/l
0.08
47
381
7
96
0.73
0.31
1.0
1.9
180.57
229.81
pmol/l
—
7
90
7
55
1.28
0.30
14.3
12.0
7.01
6.74
mmol/l
—
7
45
7
56
1.25
0.29
1.1
1.1
—
—
—
0
0
19
158
1.21
0.28
4.2
8.5
1.34
1.58
%
0.68
14
148
8
62
1.30
0.28
2.6
4.8
—
975.29
—
0
7
113
1065
1.08
0.27
3.9
3.2
0.51
0.49
e6/l
0.04
93
796
5
72
0.69
0.26
1.2
1.7
—
—
—
0
0
6
81
0.74
0.24
1.2
1.3
0.63
0.96
nmol/l
—
6
67
24
209
1.16
0.23
2.9
3.1
0.20
0.20
e6/l
0.00
24
201
53
487
1.10
0.23
5.9
7.7
105.04
104.23
mmol/l
0.49
53
487
5
39
1.28
0.23
1.0
1.2
—
—
—
0
0
5
40
1.25
0.22
1.2
1.1
—
—
—
0
0
283
2765
1.06
0.22
4.5
4.1
12.52
12.48
mm/h
0.02
262
2518
13
107
1.22
0.22
1.1
1.2
—
—
—
0
0
13
107
1.22
0.22
1.1
1.2
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
2.76
—
0
5
0
10
0.00
0.21
0.0
1.3
—
—
—
0
0
0
10
0.00
0.21
0.0
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
—
104.67
—
0
12
0
12
0.00
0.21
0.0
1.0
—
—
—
0
0
6
48
1.25
0.20
1.5
1.6
15.30
17.01
ug/l
—
6
48
0
14
0.00
0.20
0.0
1.1
—
—
—
0
0
37
406
0.90
0.20
4.3
4.6
4.32
37.80
ug/l
1.09
32
350
15
176
0.85
0.20
1.1
1.3
—
—
—
0
0
6
50
1.20
0.20
1.3
1.3
—
—
—
0
0
13
109
1.20
0.18
1.8
1.6
—
—
—
0
0
19
166
1.15
0.18
1.1
1.0
—
—
—
0
0
5
70
0.71
0.17
1.0
2.0
—
—
—
0
0
6
79
0.76
0.15
1.5
1.4
—
—
—
0
0
67
635
1.06
0.15
3.6
3.0
4.29
1.81
e6/l
0.51
42
356
9
79
1.14
0.15
1.1
1.4
—
—
—
0
0
8
100
0.80
0.13
1.3
1.9
—
—
—
0
0
12
105
1.15
0.11
1.2
1.1
—
15.78
—
0
12
39
368
1.07
0.10
3.4
2.5
30.78
34.93
u/l
0.50
32
309
249
2458
1.03
0.09
4.6
3.3
57.03
50.05
u/l
0.26
232
2292
6
55
1.09
0.09
1.2
1.2
—
—
—
0
0
10
113
0.88
0.08
1.8
1.9
—
—
—
0
0
6
75
0.80
0.07
1.3
1.9
—
—
—
0
0
6
75
0.80
0.07
1.3
1.9
—
—
—
0
0
38
397
0.95
0.07
3.6
3.4
—
—
—
0
0
386
3882
0.97
0.07
21.8
17.8
3.96
3.99
mmol/l
1.41
374
3765
11
121
0.91
0.06
3.2
2.3
232.00
89.73
ug/min
—
6
66
116
1174
0.98
0.03
2.8
3.3
1752.68
1430.10
ng/l
0.15
94
1005
386
3873
0.98
0.03
21.8
17.6
139.56
139.70
mmol/l
0.43
375
3757
30
291
1.03
0.02
3.3
2.8
53.50
65.81
ml/min/173m2
0.80
12
126
11
116
0.95
0.00
2.8
2.0
—
—
—
0
0
14
144
0.97
0.00
2.5
2.0
—
—
—
0
0
10
97
1.03
0.00
1.2
1.1
—
—
—
0
0
48
475
1.01
0.00
5.5
3.2
8.16
9.33
umol/l
0.22
41
424
13
132
0.98
0.00
1.7
2.0
5.85
3.57
mg/l
—
8
104
148
1475
1.00
0.00
5.0
3.8
30.63
41.49
ng/l
0.45
114
1043
5
56
0.89
0.00
1.0
1.1
—
—
—
0
0
0
9
0.00
-0.00
0.0
2.7
—
42.89
—
0
9
7
74
0.95
-0.00
1.9
1.5
—
100.23
—
0
13
0
9
0.00
-0.00
0.0
1.0
—
6.84
—
0
9
0
7
0.00
-0.00
0.0
1.0
—
20.60
—
0
7
0
6
0.00
-0.00
0.0
4.8
—
150.67
—
0
6
9
91
0.99
-0.00
1.4
1.3
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.1
—
30.57
—
0
7
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
87.43
—
0
7
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.1
—
—
—
0
0
8
87
0.92
-0.00
1.4
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
6
62
0.97
-0.00
1.5
1.5
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.2
—
—
—
0
0
(3011547) Coagulation factor VII activity actual/normal in Platelet poor plasma by Coagulation assay
0
9
0.00
-0.00
0.0
1.0
—
134.33
—
0
9
0
9
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
6.0
—
—
—
0
0
0
6
0.00
-0.00
0.0
1.5
—
—
—
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
Loading data