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. |
74 |
4. Check minimum number of eventsNone |
74 |
5. Include endpointsNone |
74 |
6. Filter based on genotype QC (FinnGen only) |
74 |
Control definitions (FinnGen only)
- Control exclude
- Q17_OTHER_CONGEN_MALFO
Extra metadata
- First used in FinnGen datafreeze
- DF12
Similar endpoints
↥List of similar endpoints to
Tuberous sclerosis 1
based on the number of shared cases.
Similar with more cases:
- Phakomatoses, not elsewhere classified
- Other congenital malformations
- Congenital malformations, deformations and chromosomal abnormalities
- Any operation in hilmo
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
This endpoint is excluded (different definition than used in FinnGen).
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 74 | 49 | 25 |
| Unadjusted period prevalence (%) | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | 28.23 | 30.82 | 23.15 |
-FinnGen-
Age distribution of first events
-FinnGen-
Year distribution of first events
-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.
No data available
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
41
178
3.92
7.82
5.2
7.0
37.7
37.4
g/l
0.13
36
173
41
192
3.55
6.73
4.6
3.9
—
—
—
0
0
47
249
3.43
6.16
11.7
10.4
1.2
1.2
mmol/l
0.14
42
217
19
63
3.71
5.12
5.6
17.5
23.2
24.7
mmol/l
1.55
19
63
14
38
4.31
4.91
3.8
2.9
—
—
—
0
0
8
7
12.60
4.91
2.1
1.6
0.6
0.5
nmol/l
—
8
7
23
90
3.26
4.79
3.5
3.2
2.3
2.3
e6/l
0.00
16
53
13
35
4.29
4.60
5.2
8.3
-0.1
1.4
mmol/l
—
8
28
23
98
2.95
4.09
3.4
2.9
0.8
0.9
e6/l
0.04
18
62
12
34
4.02
3.95
2.1
1.4
90.7
62.4
ml/min/173m2
—
6
11
20
83
2.93
3.70
2.7
11.7
29.7
30.7
s
0.36
20
83
26
146
2.20
2.49
2.5
3.3
14.9
44.4
ng/l
0.88
14
82
68
578
3.17
2.41
20.8
12.5
139.2
139.7
mmol/l
0.69
68
563
41
281
2.03
2.29
4.1
3.6
0.0
0.0
estimate
—
8
55
43
301
2.02
2.25
5.4
6.2
5.8
6.4
mmol/l
1.91
43
274
62
500
2.48
2.22
13.1
8.6
96.1
95.5
ml/min/173m2
0.06
55
390
41
287
1.96
2.10
5.8
5.0
0.0
0.0
estimate
—
10
56
7
21
3.57
2.02
7.4
10.9
1.1
1.1
%
—
7
21
67
578
2.68
1.99
20.5
12.5
4.0
3.9
mmol/l
0.96
67
562
41
291
1.92
1.98
4.1
3.5
0.0
0.0
estimate
—
10
51
7
26
2.86
1.62
1.0
1.4
—
—
—
0
0
5
16
3.27
1.46
5.6
11.2
23.2
24.5
mmol/l
—
5
16
22
140
1.81
1.41
4.0
4.1
0.0
0.0
estimate
—
10
54
5
17
3.08
1.38
7.8
5.6
53.3
61.5
%
—
5
17
34
250
1.67
1.31
4.3
4.5
—
—
—
0
0
0
36
0.00
1.17
0.0
1.5
—
—
—
0
0
69
632
2.36
1.12
17.9
11.7
73.8
68.4
umol/l
0.33
69
632
11
61
1.94
1.05
6.5
9.5
1.0
1.0
mmol/l
—
6
46
0
29
0.00
1.00
0.0
1.5
—
—
—
0
0
67
610
2.04
0.99
16.1
12.3
17.6
20.5
mg/l
0.56
59
429
18
122
1.63
0.91
2.8
3.5
—
—
—
0
0
8
43
1.96
0.91
1.1
2.3
—
281.6
u/l
—
0
11
11
66
1.78
0.84
1.6
4.7
7.4
292.0
ng/l
—
5
36
44
369
1.47
0.83
9.0
13.3
4.1
3.7
e9/l
0.45
39
319
0
25
0.00
0.80
0.0
2.2
—
3.0
—
0
15
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
0
26
0.00
0.80
0.0
1.4
—
—
—
0
0
21
153
1.52
0.79
1.9
1.5
98.4
101.3
pmol/l
0.11
11
76
26
205
1.41
0.65
4.1
3.6
—
—
—
0
0
5
29
1.78
0.65
1.8
1.7
—
—
—
0
0
8
49
1.71
0.65
1.4
1.2
—
—
—
0
0
0
21
0.00
0.61
0.0
2.3
—
—
—
0
0
0
21
0.00
0.61
0.0
3.0
—
—
—
0
0
8
57
1.45
0.44
10.0
5.6
—
—
—
0
0
8
57
1.45
0.44
1.5
2.7
15.6
28.9
u/l
—
8
49
0
15
0.00
0.41
0.0
4.4
—
—
—
0
0
0
17
0.00
0.41
0.0
1.2
—
—
—
0
0
0
18
0.00
0.40
0.0
1.3
—
15.9
—
0
6
7
55
1.30
0.31
8.6
9.7
23.5
24.2
mmol/l
—
7
55
5
38
1.34
0.24
3.6
2.2
19.3
12.1
nmol/l
—
5
33
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
11
0.00
0.21
0.0
1.7
—
8.0
—
0
5
0
11
0.00
0.21
0.0
1.6
—
—
—
0
0
0
11
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
2.3
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
10
0.00
0.21
0.0
1.6
—
—
—
0
0
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
0
12
0.00
0.21
0.0
3.7
—
—
—
0
0
0
12
0.00
0.21
0.0
3.7
—
—
—
0
0
0
14
0.00
0.20
0.0
1.7
—
—
—
0
0
55
568
0.88
0.13
3.8
3.5
—
—
—
0
0
6
53
1.14
0.09
1.5
8.7
242.2
233.7
u/l
—
6
53
6
58
1.04
0.08
1.8
1.6
—
—
—
0
0
16
152
1.07
0.02
1.1
2.2
—
—
—
0
0
22
212
1.05
0.02
1.8
1.6
—
—
—
0
0
12
116
1.04
0.00
1.8
1.5
—
—
—
0
0
17
166
1.03
0.00
1.1
2.3
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
9
0.00
0.00
0.0
1.7
—
—
—
0
0
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
6
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
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
1.0
—
13.4
—
0
5
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
13.0
—
0
5
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
0
5
0.00
0.00
0.0
1.0
—
137.4
—
0
5
0
5
0.00
0.00
0.0
1.2
—
108.2
—
0
5
0
5
0.00
0.00
0.0
1.0
—
9.3
—
0
5
0
6
0.00
0.00
0.0
1.5
—
691.3
—
0
6
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
7
0.00
0.00
0.0
2.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
7
79
0.87
0.00
2.0
1.8
—
—
—
0
0
0
5
0.00
0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
0.3
—
0
6
Mortality – FinRegistry
↥This endpoint is excluded (different definition than used in FinnGen).
Relationships between endpoints
↥Index endpoint: Q17_TUBEROUS_SCLEROSIS – Tuberous sclerosis 1
GWS hits: -
This endpoint is excluded (different definition than used in FinnGen).