Other sideroblastic anaemias

D3_SIDEROANAMIEAOTHER

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

520210

1. Apply sex-specific rule

None

520210

2. Check conditions

None

520210

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 D64.3
  • Hospital discharge: ICD-9 2850X
  • Hospital discharge: ICD-8 28500
  • Cause of death: ICD-10 D64.3
  • Cause of death: ICD-9 2850X
  • Cause of death: ICD-8 28500

2 out of 7 registries used, show all original rules.

137

4. Check minimum number of events

None

137

5. Include endpoints

None

137

6. Filter based on genotype QC (FinnGen only)

137

Control definitions (FinnGen only)

Control exclude
D3_APLASTICANDOTHANAEMIA

Extra metadata

Level in the ICD hierarchy
4
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
D64
Name in latin
Aliae anaemia sideroblasticae

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 1579 915 635
Only index persons 1006 616 390
Unadjusted period prevalence (%)
Whole population 0.02 0.03 0.02
Only index persons 0.02 0.02 0.01
Median age at first event (years)
Whole population 71.02 71.37 70.40
Only index persons 65.44 64.99 66.15

-FinnGen-

Key figures

All Female Male
Number of individuals 137 67 70
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 66.35 63.51 69.07

-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 (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
126
Matched controls
1258
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.3
ICD-10 Finland
Other sideroblastic anaemias
+∞
147.5
111
*
D64.9
ICD-10 Finland
Anaemia, unspecified
70.1
55.4
62
17
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
13.0
19.2
35
36
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.0
15.7
68
239
B82
ICPC
Anaemia other/unspecified
27.6
15.7
21
9
28500
ICD-8 Finland
Other and unspecified anaemias, Hypochromic anaemia with iron loading
+∞
11.6
11
*
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
19.4
11.6
17
10
ZX120
NOMESCO Finland
Intravenous
7.0
11.1
28
49
UJF92
NOMESCO Finland
Capsular endoscopy
26.0
10.5
14
6
WW500
NOMESCO Finland
Blood transfusion
11.0
10.2
19
20
XW000
NOMESCO Finland
Bone marrow biopsy
14.0
9.1
15
12
D50.8
ICD-10 Finland
Other iron deficiency anaemias
53.8
8.8
10
*
UJF32
NOMESCO Finland
Coloscopy
3.3
8.1
49
202
N18.9
ICD-10 Finland
Chronic kidney disease, unspecified
6.6
7.9
20
35
138
Kela drug reimbursment
Severe anaemia associated with chronic renal failure
17.9
6.9
10
6
A02BC02
ATC
pantoprazole; systemic
2.8
6.7
92
613
D64.0
ICD-10 Finland
Hereditary sideroblastic anaemia
+∞
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
68
240
4.64
17.78
4.3
1.8
4.0
3.0
mg/l
2.07
60
201
78
390
3.32
10.89
8.0
2.4
201.8
121.3
ug/l
1.35
73
347
25
86
3.33
6.11
5.8
3.3
—
—
—
0
0
24
83
3.29
5.81
6.0
3.2
0.5
1.5
mmol/l
0.31
17
59
46
248
2.29
4.66
14.0
6.6
—
—
—
0
0
19
67
3.13
4.43
13.2
7.5
—
—
—
0
0
53
315
2.11
4.15
10.2
4.6
—
—
—
0
0
27
120
2.56
4.14
8.4
5.4
2.3
1.3
mmol/l
0.32
22
93
27
127
2.40
3.66
1.4
1.2
—
—
—
0
0
69
475
1.91
3.42
10.1
5.2
0.6
0.6
e9/l
0.02
62
407
71
495
1.90
3.37
11.3
5.3
0.2
0.2
e9/l
0.43
66
436
69
477
1.90
3.36
10.1
5.3
0.0
0.0
e9/l
0.11
62
411
64
439
1.86
3.14
2.4
1.9
92.4
100.4
pmol/l
0.72
36
209
17
69
2.67
3.10
1.2
2.2
—
—
—
0
0
65
456
1.81
2.91
11.5
5.3
60.9
58.4
%
0.74
60
417
23
114
2.22
2.76
1.7
1.6
—
—
—
0
0
6
11
5.65
2.57
1.5
1.2
—
—
—
0
0
61
432
1.74
2.56
15.8
9.7
0.0
0.0
e9/l
0.21
52
349
51
344
1.77
2.53
3.5
3.3
—
—
—
0
0
64
470
1.68
2.29
11.8
4.9
1.2
1.2
mmol/l
0.36
58
418
13
54
2.55
2.27
2.5
2.4
—
—
—
0
0
10
36
2.92
2.25
3.7
2.1
—
—
—
0
0
44
293
1.74
2.25
7.2
4.0
—
—
—
0
0
58
418
1.67
2.21
5.9
4.0
33.1
57.5
ng/l
1.03
45
295
7
19
3.82
2.18
2.1
4.2
—
—
—
0
0
26
148
1.93
2.18
2.7
1.9
—
—
—
0
0
6
14
4.43
2.17
1.2
1.1
—
—
—
0
0
46
314
1.70
2.14
8.3
3.8
7.4
7.4
ph
—
9
56
8
25
3.33
2.13
4.4
2.4
—
—
—
0
0
72
559
1.61
1.99
20.2
9.1
3.9
4.1
e9/l
0.46
66
486
5
11
4.67
1.96
1.2
1.9
—
—
—
0
0
47
330
1.65
1.94
4.1
3.1
26.9
75.4
e6/l
0.88
41
257
0
51
0.00
1.93
0.0
1.3
—
—
—
0
0
42
288
1.66
1.90
3.8
2.9
—
—
—
0
0
5
12
4.28
1.84
2.4
1.7
33.8
31.5
pg
—
5
12
5
12
4.28
1.84
1.0
1.8
—
—
—
0
0
18
306
0.53
1.77
3.0
3.1
—
—
—
0
0
5
13
3.95
1.73
1.0
1.7
—
—
nmol/l
—
0
0
11
49
2.35
1.68
1.4
1.8
2.2
1.9
g/l
0.09
11
43
13
63
2.17
1.66
5.5
4.0
—
—
—
0
0
12
57
2.21
1.60
4.5
2.9
122.3
126.1
g/l
0.24
12
57
26
164
1.72
1.58
1.3
1.3
3.3
2.4
g/l
0.41
19
96
5
15
3.42
1.53
1.6
2.4
—
—
—
0
0
7
28
2.58
1.47
2.0
3.1
1.3
1.5
mmol/l
—
7
28
45
332
1.53
1.46
10.2
2.2
—
—
—
0
0
86
727
1.49
1.43
5.5
4.1
20.8
13.3
mm/h
2.02
78
650
12
62
2.03
1.32
4.1
1.9
16.1
9.7
g/l
1.01
12
53
10
48
2.17
1.31
5.3
3.1
23.9
24.6
mmol/l
—
10
48
73
606
1.44
1.28
8.5
4.1
7.3
6.7
mmol/l
1.29
68
564
13
71
1.92
1.24
2.8
2.9
5.4
5.1
kpa
0.36
13
62
5
20
2.55
1.16
1.2
1.3
0.2
0.2
g/l
—
5
20
7
31
2.32
1.12
2.1
3.1
115.2
265.7
mg/l
—
7
23
7
31
2.32
1.12
2.1
3.1
89.9
30.7
mg/l
—
7
23
5
21
2.43
1.10
1.2
1.3
0.9
1.1
g/l
—
5
21
9
46
2.02
1.06
5.6
2.3
0.8
0.7
%
—
9
46
5
22
2.32
1.04
1.8
1.1
—
—
—
0
0
9
48
1.94
1.03
5.6
2.3
1.6
1.3
%
—
9
48
6
28
2.19
0.92
2.0
3.1
7.2
7.6
mmol/l
—
6
28
26
188
1.47
0.92
1.1
1.2
0.8
0.8
u/ml
—
5
53
27
197
1.46
0.91
9.0
5.7
—
—
—
0
0
6
29
2.12
0.90
2.2
2.4
8.3
7.9
kpa
—
6
24
8
44
1.87
0.87
2.1
3.1
—
—
—
0
0
33
253
1.40
0.86
8.7
3.4
73.3
86.7
%
2.32
33
247
6
31
1.98
0.85
24.7
16.3
—
—
—
0
0
52
431
1.33
0.84
15.1
9.0
1.2
1.3
inr
0.23
15
115
32
246
1.39
0.82
1.7
1.8
546.2
452.6
pmol/l
0.63
26
202
79
697
1.32
0.81
5.2
4.4
—
—
—
0
0
13
82
1.65
0.81
1.7
1.4
—
—
—
0
0
29
220
1.40
0.80
4.7
4.9
1.0
1.0
kg/l
—
7
33
8
48
1.71
0.80
14.3
6.1
—
—
—
0
0
77
678
1.31
0.80
6.1
4.7
—
4312.6
—
0
13
30
230
1.39
0.78
9.6
1.6
1.3
1.5
mg/l
0.26
24
176
13
83
1.63
0.78
1.8
3.7
1.2
1.2
mmol/l
0.38
13
73
15
101
1.54
0.74
1.7
1.5
—
—
—
0
0
5
25
2.04
0.73
1.0
1.1
—
—
—
0
0
27
206
1.39
0.73
6.7
3.3
631.3
125.9
ng/l
0.84
27
160
43
354
1.31
0.72
4.3
3.0
2.4
2.3
mmol/l
0.05
38
300
106
983
1.35
0.71
33.8
14.6
26.5
25.1
mg/l
0.18
91
791
12
78
1.59
0.68
3.7
3.2
—
—
—
0
0
10
62
1.66
0.67
1.5
1.7
—
—
—
0
0
0
22
0.00
0.60
0.0
2.0
—
—
—
0
0
47
401
1.26
0.59
2.2
2.2
—
—
—
0
0
0
23
0.00
0.59
0.0
1.2
—
—
—
0
0
6
39
1.56
0.53
1.7
3.2
1.6
1.6
%
—
6
34
12
84
1.47
0.51
1.5
1.4
—
—
—
0
0
38
324
1.24
0.47
4.9
4.2
—
—
—
0
0
12
86
1.43
0.46
5.7
3.8
—
—
—
0
0
8
57
1.43
0.43
1.4
1.3
—
—
—
0
0
0
17
0.00
0.41
0.0
1.3
—
—
—
0
0
16
125
1.32
0.39
1.6
1.7
—
—
—
0
0
32
369
0.83
0.37
4.4
5.2
2.8
3.0
ug/l
0.06
27
320
7
52
1.36
0.32
1.1
1.3
—
—
—
0
0
13
103
1.29
0.29
4.8
3.1
—
—
—
0
0
5
73
0.67
0.27
1.2
1.3
—
—
—
0
0
91
949
0.88
0.26
4.4
4.6
4.0
4.5
mmol/l
4.49
83
862
34
305
1.15
0.25
3.5
3.0
7.4
7.1
mmol/l
0.16
28
244
6
85
0.69
0.24
1.8
1.8
—
—
—
0
0
5
38
1.33
0.23
1.2
1.1
—
—
—
0
0
5
38
1.33
0.23
11.4
4.2
—
—
—
0
0
93
966
0.88
0.23
4.7
5.2
2.3
2.6
mmol/l
3.95
85
874
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
10
0.00
0.21
0.0
1.0
—
1.6
—
0
5
0
10
0.00
0.21
0.0
3.5
—
—
—
0
0
0
10
0.00
0.21
0.0
1.0
—
4.8
—
0
5
0
10
0.00
0.21
0.0
1.1
—
—
—
0
0
74
704
1.11
0.21
4.6
4.1
—
—
—
0
0
91
943
0.90
0.20
4.4
4.6
1.4
1.5
mmol/l
0.96
81
854
6
52
1.16
0.19
4.2
3.6
3.4
4.4
pmol/l
—
6
45
30
272
1.13
0.19
4.0
4.5
0.0
0.0
estimate
—
9
80
94
909
1.11
0.18
7.0
6.2
41.4
40.4
mmol/mol
0.35
84
833
5
68
0.73
0.17
6.4
5.6
24.9
24.4
mmol/l
—
5
62
104
1013
1.11
0.16
33.9
13.7
—
—
—
0
0
8
72
1.12
0.16
1.4
1.3
—
—
—
0
0
14
121
1.17
0.15
1.2
1.4
—
—
—
0
0
51
484
1.09
0.14
6.7
5.7
0.0
0.0
estimate
—
10
84
93
954
0.92
0.13
5.5
4.9
6.3
6.0
mmol/l
1.08
84
861
14
123
1.15
0.13
1.3
1.3
—
—
—
0
0
34
320
1.08
0.11
3.7
3.9
8.6
12.6
mg/mmol
0.30
22
192
89
911
0.93
0.10
4.0
4.1
1.2
1.3
mmol/l
0.55
79
818
86
839
1.07
0.10
43.4
15.7
34.9
38.8
%
2.40
59
565
50
483
1.06
0.07
5.1
4.3
0.0
0.0
estimate
—
9
86
7
82
0.85
0.07
4.1
4.1
—
—
—
0
0
20
213
0.93
0.06
3.2
3.0
0.6
0.8
ug/l
0.89
13
150
10
90
1.12
0.05
1.5
1.5
—
—
—
0
0
26
272
0.95
0.05
5.5
3.8
—
—
—
0
0
50
488
1.04
0.04
5.3
4.3
0.0
0.0
estimate
—
7
81
73
721
1.03
0.02
3.8
3.8
14.6
15.0
pmol/l
0.51
67
644
26
268
0.96
0.02
1.6
1.3
—
—
—
0
0
108
1072
1.04
0.02
54.2
21.6
90.3
91.4
fl
0.88
108
1048
108
1073
1.03
0.01
54.1
21.5
29.4
30.4
pg
3.27
108
1049
108
1073
1.03
0.01
54.7
21.8
119.0
134.1
g/l
13.84
108
1047
29
296
0.97
0.00
3.3
3.1
54.7
527.4
mg/l
0.87
21
183
89
887
1.01
0.00
4.4
4.7
1.9
2.0
mu/l
0.42
81
789
23
228
1.01
0.00
4.8
4.4
—
—
—
0
0
11
105
1.05
0.00
1.4
1.3
—
—
—
0
0
6
64
0.93
0.00
1.0
1.2
—
—
—
0
0
0
6
0.00
0.00
0.0
1.0
—
11.0
—
0
6
0
6
0.00
0.00
0.0
1.7
—
—
—
0
0
0
8
0.00
0.00
0.0
1.3
—
—
—
0
0
0
7
0.00
0.00
0.0
2.0
—
2.9
—
0
7
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
3.0
—
3.0
—
0
6
0
5
0.00
0.00
0.0
2.8
—
28.4
—
0
5
7
74
0.94
0.00
2.7
3.2
—
—
—
0
0
0
8
0.00
0.00
0.0
2.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
—
—
0
0
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
0.00
0.0
1.6
—
11.8
—
0
5
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
0.00
0.0
3.6
—
—
—
0
0
0
6
0.00
0.00
0.0
1.2
—
278.5
—
0
6
0
5
0.00
0.00
0.0
1.0
—
1.7
—
0
5
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0

Mortality – FinRegistry

Association

Association between endpoint D3_SIDEROANAMIEAOTHER and mortality.

Females

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.545 [1.95, 3.32] < 0.001
Birth year 0.986 [0.98, 1.0] 0.003

During the follow-up period (1.1.1998 — 31.12.2019), 302 out of 565 females with D3_SIDEROANAMIEAOTHER died.

Males

Parameter HR [95% CI] p-value
D3_SIDEROANAMIEAOTHER 2.558 [1.77, 3.69] < 0.001
Birth year 0.992 [0.98, 1.0] 0.096

During the follow-up period (1.1.1998 — 31.12.2019), 213 out of 380 males with D3_SIDEROANAMIEAOTHER died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANAMIEAOTHER.

N-year risk Females Males
1 0.199% 0.607%
5 1.237% 3.073%
10 2.959% 8.425%
15 5.515% 15.674%
20 9.1% 26.053%

Relationships between endpoints

Index endpoint: D3_SIDEROANAMIEAOTHER – Other sideroblastic anaemias

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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