This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Other and unspecified thalassaemias
D3_THALASSAEMIANAS
No definition available.
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. |
61 |
4. Check minimum number of eventsNone |
61 |
5. Include endpointsNone |
61 |
6. Filter based on genotype QC (FinnGen only) |
15 |
Control definitions (FinnGen only)
- Control exclude
- D3_HAEMOLYTICANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 4
- First used in FinnGen datafreeze
- DF6
Similar endpoints
↥List of similar endpoints to
Other and unspecified thalassaemias
based on the number of shared cases.
Similar with more cases:
- Thalassaemia
- Haemolytic anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- 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 | 1025 | 470 | 452 |
| Only index persons | 777 | 411 | 366 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.02 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.02 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 22.42 | 26.14 | 16.11 |
| Only index persons | 25.52 | 28.63 | 22.03 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 15 | 7 | 8 |
| Unadjusted period prevalence (%) | 0.00 | 0.00 | 0.00 |
| Median age at first event (years) | 46.36 | 50.39 | 42.82 |
-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
Not a core endpoint, no data to show.
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
- 61
- Matched controls
- 610
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D56.99
ICD-10 Finland
Thalassaemia, unspecified
+∞
33.4
29
*
D56.91
ICD-10 Finland
Thalassemia minor
+∞
28.3
25
*
D56.1
ICD-10 Finland
Beta thalassaemia
+∞
15.2
14
*
D56.0
ICD-10 Finland
Alpha thalassaemia
+∞
10.7
10
*
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
10.7
10
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
14.7
8.6
14
12
D56
ICD-10 Finland
Thalassaemia
+∞
7.4
7
*
D56.8
ICD-10 Finland
Other thalassaemias
+∞
7.4
7
*
D64.9
ICD-10 Finland
Anaemia, unspecified
10.3
7.3
14
17
O99.0
ICD-10 Finland
Anaemia complicating pregnancy, childbirth and the puerperium
25.9
6.9
9
*
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
+∞
6.3
6
*
Z31.5
ICD-10 Finland
Genetic counselling
7.0
6.2
15
27
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
34
103
6.20
11.63
2.6
2.0
4.20
2.68
mg/l
1.73
28
86
33
135
4.15
7.03
2.0
1.8
103.25
91.97
pmol/l
0.67
20
74
19
56
4.48
6.19
2.2
1.5
1069.57
927.85
nmol/l
0.24
14
43
12
20
7.18
5.23
5.7
9.9
151.25
165.35
%
0.32
12
20
13
25
6.31
5.12
5.2
8.6
92.92
91.48
%
0.10
13
25
46
293
3.32
4.10
20.8
10.2
3.79
4.27
e9/l
0.79
35
256
8
21
4.22
2.56
1.6
2.1
—
—
—
0
0
24
132
2.35
2.52
3.3
3.2
2.35
2.38
mmol/l
0.50
18
111
19
94
2.48
2.50
4.2
3.4
0.90
1.12
mg/l
0.21
12
73
6
12
5.41
2.46
3.8
3.4
—
—
—
0
0
31
192
2.25
2.45
9.4
9.3
1.21
1.23
mmol/l
1.38
23
173
5
8
6.68
2.42
1.4
1.0
—
—
—
0
0
21
111
2.36
2.39
10.9
2.5
—
—
—
0
0
24
136
2.26
2.32
4.5
4.1
0.51
0.37
e6/l
0.16
19
100
5
9
5.93
2.25
1.6
8.0
118.80
89.89
%
—
5
9
26
163
2.04
1.89
4.3
3.9
—
—
—
0
0
26
163
2.04
1.89
8.7
7.3
35.31
36.24
g/l
0.30
21
158
10
40
2.79
1.76
5.5
11.2
105.50
105.10
mmol/l
—
10
40
10
41
2.72
1.74
1.3
1.4
—
—
—
0
0
10
41
2.72
1.74
1.3
1.4
—
—
—
0
0
10
41
2.72
1.74
1.3
1.4
—
—
—
0
0
10
41
2.72
1.74
1.3
1.4
—
—
—
0
0
19
110
2.06
1.68
3.6
2.8
58.06
21.50
ng/l
0.40
12
61
6
23
2.78
1.40
1.3
1.9
—
83.14
—
0
5
6
23
2.78
1.40
1.2
1.3
—
—
—
0
0
9
43
2.28
1.37
1.6
1.5
—
—
—
0
0
5
19
2.77
1.24
1.4
2.9
254.00
132.38
u/ml
—
5
13
55
489
2.27
1.22
20.8
11.9
15.59
23.33
mg/l
1.70
49
361
5
21
2.50
1.11
4.0
1.3
—
—
—
0
0
5
22
2.38
1.05
1.4
2.7
—
—
—
0
0
29
219
1.62
1.01
9.3
2.7
—
—
—
0
0
6
27
2.35
0.96
1.3
1.3
—
—
—
0
0
8
45
1.89
0.88
2.8
6.1
—
—
—
0
0
13
82
1.74
0.86
3.8
1.9
—
—
—
0
0
9
52
1.86
0.81
3.8
1.8
—
—
—
0
0
5
23
2.27
0.78
1.2
1.2
—
—
—
0
0
9
55
1.74
0.78
3.9
1.8
—
—
—
0
0
7
39
1.90
0.75
24.0
14.2
24.70
25.51
mmol/l
—
7
39
47
414
1.59
0.74
16.2
8.8
106.14
94.82
ml/min/173m2
2.38
41
318
5
26
2.00
0.72
2.2
1.8
—
—
—
0
0
12
79
1.65
0.69
1.4
1.5
—
—
—
0
0
6
34
1.85
0.60
4.8
2.6
—
—
—
0
0
20
154
1.44
0.59
11.9
8.2
1.53
1.11
inr
—
6
35
21
165
1.42
0.55
1.6
1.9
—
—
—
0
0
7
45
1.63
0.51
2.0
2.1
—
—
—
0
0
5
32
1.61
0.43
1.2
1.1
—
—
—
0
0
47
432
1.38
0.42
3.7
3.9
—
—
—
0
0
0
15
0.00
0.42
0.0
1.4
—
30.33
—
0
15
0
16
0.00
0.41
0.0
2.6
—
—
—
0
0
0
17
0.00
0.41
0.0
1.8
—
—
—
0
0
0
18
0.00
0.40
0.0
1.4
—
6.43
—
0
12
45
413
1.34
0.39
3.7
3.3
5.93
5.63
mmol/l
0.28
40
380
5
72
0.67
0.28
1.0
2.0
—
—
—
0
0
6
82
0.70
0.26
3.7
4.0
1.49
1.83
ug/l
—
6
66
14
116
1.27
0.25
2.6
3.3
0.00
0.03
estimate
—
6
38
5
42
1.21
0.22
2.2
1.4
—
—
—
0
0
16
137
1.23
0.21
1.8
2.7
—
—
—
0
0
0
11
0.00
0.21
0.0
1.5
—
203.09
—
0
11
14
119
1.23
0.20
1.8
2.6
—
—
—
0
0
25
233
1.12
0.11
3.1
3.6
0.00
0.00
estimate
—
6
40
5
45
1.12
0.10
2.8
1.4
4.28
16.00
iu/l
—
5
40
5
45
1.12
0.10
2.2
2.7
0.72
0.63
ug/l
—
5
30
9
99
0.89
0.07
1.6
1.3
—
—
—
0
0
42
432
0.91
0.06
4.0
3.5
4.24
4.68
mmol/l
2.28
37
405
24
230
1.07
0.04
4.8
5.4
0.00
0.00
estimate
—
6
41
11
103
1.08
0.02
1.4
1.8
1.34
1.40
mmol/l
0.06
11
90
24
233
1.05
0.01
3.3
3.7
0.00
0.00
estimate
—
5
37
16
163
0.98
0.00
2.8
3.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
8
86
0.92
0.00
1.1
2.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
—
—
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
1.3
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
13.00
—
0
6
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
7
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.8
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.9
—
8.20
—
0
8
0
9
0.00
-0.00
0.0
1.7
—
7.11
—
0
9
Mortality – FinRegistry
↥Association
Association between endpoint D3_THALASSAEMIANAS and mortality.
Females
No dataMales
No dataMortality risk
Mortality risk for people of age
years, who have D3_THALASSAEMIANAS.| N-year risk | Females | Males |
|---|---|---|
| 1 | No data | No data |
| 5 | No data | No data |
| 10 | No data | No data |
| 15 | No data | No data |
| 20 | No data | No data |
Relationships between endpoints
↥Index endpoint: D3_THALASSAEMIANAS – Other and unspecified thalassaemias
GWS hits: -
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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