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Hereditary sideroblastic anaemia

DOID EFO Endpoint Browser PheWeb

D3_SIDEROANAEMIAHERED

anemia (phenotype): ['A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin.']

Suggest a new description

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 — D64.0
  • Hospital discharge: ICD-9 — 2850A
  • Cause of death: ICD-10 — D64.0
  • Cause of death: ICD-9 — 2850A

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

139

4. Check minimum number of events

None

139

5. Include endpoints

None

139

6. Filter based on genotype QC (FinnGen only)

139

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
Anaemia sideroblastica hereditaria

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 1481 806 652
Only index persons 986 576 410
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.02
Only index persons 0.02 0.02 0.02
Median age at first event (years)
Whole population 74.92 76.56 72.85
Only index persons 72.92 75.87 68.78

-FinnGen-

Key figures

All Female Male
Number of individuals 139 67 72
Unadjusted period prevalence (%) 0.03 0.02 0.03
Median age at first event (years) 67.55 64.71 70.20

-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
124
Matched controls
1240
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D64.0
ICD-10 Finland
Hereditary sideroblastic anaemia
+∞
170.5
121
*
D64.9
ICD-10 Finland
Anaemia, unspecified
77.2
66.7
74
23
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
16.6
26.8
45
41
UJD10
NOMESCO Finland
Esophagoscopy, gastroscopy and duodenoscopy
5.8
18.2
68
213
UJF92
NOMESCO Finland
Capsular endoscopy
156.3
13.7
14
*
UJF32
NOMESCO Finland
Coloscopy
4.5
12.8
57
197
D64.8
ICD-10 Finland
Other specified anaemias
+∞
12.7
12
*
WW500
NOMESCO Finland
Blood transfusion
17.0
12.3
19
13
D50.0
ICD-10 Finland
Iron deficiency anaemia secondary to blood loss (chronic)
13.0
11.0
19
17
XW000
NOMESCO Finland
Bone marrow biopsy
15.1
10.0
16
12
ZX120
NOMESCO Finland
Intravenous
5.7
9.5
28
60
D50.8
ICD-10 Finland
Other iron deficiency anaemias
29.9
8.6
11
*
JN3AE
NOMESCO Finland
Abdominal ultrasound examination
4.3
8.0
31
89
D46.0
ICD-10 Finland
Refractory anaemia without ring sideroblasts, so stated
+∞
7.4
7
*
UJD02
NOMESCO Finland
Gastroscopy
6.6
7.2
18
31
K44.9
ICD-10 Finland
Diaphragmatic hernia without obstruction or gangrene
4.9
7.1
23
55
C03CA01
ATC
furosemide; systemic
2.8
6.9
68
379
D46.9
ICD-10 Finland
Myelodysplastic syndrome, unspecified
42.4
6.8
8
*
D62
ICD-10 Finland
Acute posthaemorrhagic anaemia
73.4
6.5
7
*
TPH04
NOMESCO Finland
Cathetrisation of vein
3.2
6.4
38
152
V03AC03
ATC
deferasirox; oral
+∞
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
unit
cases
controls
-log10(p)
N cases
N controls
(3022948) Iron [Moles/volume] in Serum or Plasma
48
142
4.64
15.44
5.4
2.0
umol/l
12.1
13.4
0.39
48
127
(40763571) Iron/Transferrin [Ratio] in Serum or Plasma
42
120
4.58
14.00
5.9
2.0
%
22.9
22.3
0.07
42
100
(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells
13
18
7.86
9.00
1.5
1.9
—
—
—
0
0
(3042111) Morphology [Interpretation] in Bone marrow Narrative
11
13
9.10
8.58
1.3
1.1
—
—
—
0
0
(3016251) Hemoglobin.gastrointestinal [Presence] in Stool
18
43
4.66
7.26
3.2
2.7
—
—
—
0
0
(3020630) Protein [Mass/volume] in Serum or Plasma
23
70
3.74
6.77
2.7
2.4
g/l
66.7
65.2
0.43
23
59
(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction
28
101
3.22
6.35
5.7
3.9
u/l
252.7
231.8
0.20
28
96
(3045142) Bone marrow Pathology biopsy report
9
6
15.90
5.99
1.4
1.0
—
—
—
0
0
(3019150) Specific gravity of Urine by Refractometry
44
218
2.49
5.47
6.7
4.8
kg/l
1.0
1.0
1.33
20
31
(21494434) Karyotype in Bone marrow
8
6
14.03
5.14
1.5
1.0
—
—
—
0
0
(3044640) Blood type and Crossmatch panel - Blood
52
292
2.25
4.79
13.7
2.4
—
—
—
0
0
(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection
7
5
14.63
4.62
1.3
1.2
—
—
—
0
0
(3022621) pH of Urine by Test strip
21
78
2.99
4.49
5.0
3.6
—
—
—
0
0
(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection
19
67
3.13
4.43
1.9
1.5
—
—
—
0
0
(1761482) Bacteria [#/volume] in Urine by Culture
14
42
3.59
4.17
4.6
5.6
—
—
—
0
0
(3000330) Specific gravity of Urine by Test strip
17
60
3.09
3.95
5.1
4.6
—
—
—
0
0
(3011397) Hemoglobin [Presence] in Urine by Test strip
41
226
2.15
3.84
6.8
3.8
—
—
—
0
0
(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood
6
5
12.45
3.80
1.3
3.2
—
—
—
0
0
(3033705) Calcium.ionized [Moles/volume] in Venous blood
10
25
4.23
3.77
3.2
2.5
—
—
—
0
0
(3012544) pH of Venous blood
23
101
2.53
3.60
5.0
3.3
—
—
—
0
0
(3005719) IgG [Mass/volume] in Serum or Plasma
15
54
2.99
3.37
4.0
2.7
g/l
10.3
9.9
0.13
15
48
(3019309) Folate [Moles/volume] in Red Blood Cells
38
216
2.04
3.24
1.7
1.7
nmol/l
1198.9
1203.1
0.01
32
161
(3004588) Protein electrophoresis panel - Serum or Plasma
16
62
2.79
3.17
2.2
2.3
—
—
—
0
0
(3013115) Eosinophils [#/volume] in Blood
67
466
1.85
3.12
16.7
4.7
e9/l
0.2
0.2
1.19
62
414
(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay
8
16
5.23
3.10
16.5
1.9
g/l
3.8
4.1
—
8
16
(3035637) Corticotropin [Mass/volume] in Plasma
6
8
7.77
3.08
1.2
1.8
—
—
—
0
0
(21494815) CD4 cells/100 lymphocytes in Specimen
5
5
10.30
3.00
1.2
2.6
—
—
—
0
0
(42870588) Differential panel, method unspecified - Blood
46
289
1.88
2.92
14.5
4.0
—
—
—
0
0
(3051593) INR in Capillary blood by Coagulation assay
5
8
6.43
2.39
41.4
10.3
—
—
—
0
0
(3001079) Blood group antibody screen [Presence] in Serum or Plasma
59
420
1.70
2.38
13.1
4.2
—
—
—
0
0
(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis
11
41
2.83
2.34
2.9
1.7
—
—
—
0
0
(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma
37
232
1.81
2.31
2.2
1.8
pmol/l
357.8
476.0
2.50
32
194
(3051014) Leukocytes [#/area] in Urine sediment by Automated count
6
13
4.77
2.29
2.0
2.2
—
3.5
—
0
6
(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis
10
36
2.92
2.25
2.5
1.7
g/l
10.4
9.0
—
10
29
(3037522) Nuclear Ab [Titer] in Serum
19
96
2.13
2.18
1.3
1.3
titre
251.4
385.5
—
7
22
(40760892) CBC W Ordered Manual Differential panel - Blood
30
185
1.79
1.96
7.4
4.9
—
—
—
0
0
(3050238) Crystals [Presence] in Synovial fluid by Light microscopy
6
17
3.64
1.86
1.7
1.2
—
—
—
0
0
(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection
5
12
4.28
1.84
1.2
1.0
—
—
—
0
0
(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection
9
35
2.68
1.84
1.3
1.1
—
—
—
0
0
(3007853) Bacteria identified in Skin by Aerobe culture
20
111
1.94
1.80
1.6
1.6
—
—
—
0
0
(3000475) Leukocytes [#/volume] in Synovial fluid
6
18
3.43
1.76
2.3
1.5
e6/l
8145.3
5928.0
—
6
8
(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma
64
493
1.55
1.76
8.9
6.0
mmol/l
1.2
1.2
0.60
59
419
(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection
13
62
2.21
1.72
1.2
1.2
—
—
—
0
0
(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay
6
19
3.25
1.68
1.5
1.5
—
—
—
0
0
(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay
6
19
3.25
1.68
1.5
1.5
—
—
—
0
0
(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma
66
518
1.52
1.64
7.9
5.3
umol/l
10.5
11.7
0.77
61
487
(43054903) Holo-transcobalamin II [Moles/volume] in Serum
54
407
1.53
1.61
2.5
1.9
pmol/l
91.3
96.5
0.40
35
202
(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection
0
43
0.00
1.55
0.0
1.5
—
—
—
0
0
(40760888) Immunoglobulin light chains.free panel - Serum
5
15
3.42
1.53
2.6
5.8
—
—
—
0
0
(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection
0
45
0.00
1.53
0.0
1.7
—
—
—
0
0
(3021601) Nitrite [Presence] in Urine by Test strip
62
487
1.49
1.50
11.7
5.5
estimate
0.0
0.0
—
5
85
(3007164) IgA [Mass/volume] in Serum or Plasma
25
159
1.70
1.47
1.3
1.3
g/l
2.7
2.5
0.19
20
89
(3013650) Neutrophils [#/volume] in Blood by Automated count
67
537
1.48
1.46
21.3
7.8
e9/l
4.3
4.2
0.05
62
468
(36305247) Microscopic observation [Identifier] in Isolate by Gram stain
5
16
3.20
1.45
2.6
1.9
—
—
—
0
0
(3035350) Ketones [Presence] in Urine by Test strip
62
490
1.48
1.44
7.4
4.0
estimate
0.0
0.0
—
5
86
(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma
46
343
1.51
1.42
3.9
3.1
ng/l
1712.8
1618.2
0.07
40
294
(40762366) Oxygen capacity [Volume Fraction] in Arterial blood
9
43
2.17
1.33
5.0
5.6
—
—
—
0
0
(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma
5
116
0.41
1.32
3.2
4.8
%
45.2
32.2
—
5
66
(3004716) Salmonella sp identified in Stool by Organism specific culture
8
36
2.30
1.26
1.3
1.4
—
—
—
0
0
(3014765) Yersinia sp identified in Stool by Organism specific culture
6
25
2.46
1.25
1.2
1.2
—
—
—
0
0
(42529406) Shigella sp [Presence] in Stool by Culture
6
25
2.46
1.25
1.2
1.2
—
—
—
0
0
(3006418) Campylobacter sp identified in Tissue by Organism specific culture
6
25
2.46
1.25
1.2
1.2
—
—
—
0
0
(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection
5
19
2.69
1.22
1.2
1.1
—
—
—
0
0
(3017143) Hepatitis C virus Ab [Presence] in Serum
12
65
1.93
1.17
1.6
1.4
—
—
—
0
0
(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection
5
20
2.55
1.16
1.2
1.1
—
—
—
0
0
(40761511) CBC panel - Blood by Automated count
86
969
0.70
1.15
29.9
13.8
—
—
—
0
0
(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip
49
385
1.42
1.13
8.2
4.4
—
—
—
0
0
(3003327) Ova and parasites identified in Stool by Light microscopy
5
21
2.43
1.10
2.6
1.3
—
—
—
0
0
(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma
20
292
0.63
1.08
4.5
4.6
%
23.6
20.7
0.54
12
142
(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma
27
191
1.51
1.05
6.3
1.6
mg/l
1.3
1.2
0.10
22
156
(3026493) Urate [Moles/volume] in Serum or Plasma
34
253
1.46
1.04
4.2
2.7
umol/l
51014.6
6424.8
1.28
34
207
(3013826) Glucose [Moles/volume] in Serum or Plasma
71
601
1.37
1.04
5.6
4.0
mmol/l
6.9
6.8
0.08
66
554
(40758558) Short blood count panel - Blood
32
236
1.46
1.02
20.6
5.9
—
—
—
0
0
(3018677) aPTT in Platelet poor plasma by Coagulation assay
22
151
1.54
0.98
9.5
1.6
s
30.5
29.9
0.19
22
146
(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count
23
160
1.52
0.97
4.4
2.6
e6/l
1.2
1.2
0.05
17
96
(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count
44
348
1.39
0.96
6.7
3.2
—
—
—
0
0
(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection
17
110
1.62
0.96
2.0
1.6
—
—
—
0
0
(3042936) Bacteria identified in Isolate by Culture
20
136
1.55
0.93
1.9
1.7
—
—
—
0
0
(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)
13
79
1.71
0.91
2.5
3.8
ml/min/173m2
58.7
59.1
—
7
33
(3026008) Bacteria identified in Urine by Culture
41
324
1.38
0.90
5.1
3.4
—
—
—
0
0
(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count
22
157
1.48
0.83
4.6
2.9
e6/l
3.0
2.8
0.04
16
95
(3000991) Gas panel - Venous blood
12
74
1.68
0.81
9.0
7.4
—
—
—
0
0
(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma
21
150
1.47
0.79
1.1
1.2
iu/ml
54.1
44.5
—
6
47
(46236098) ABO and Rh group [Type] in Blood by Confirmatory method
27
204
1.40
0.76
18.3
2.2
—
—
—
0
0
(3025941) Bacteria identified in Stool by Culture
9
54
1.71
0.76
1.2
1.2
—
—
—
0
0
(3019225) pH of Specimen
5
91
0.53
0.70
2.2
4.7
—
—
—
0
0
(3052851) Hemolysis interference index of Serum or Plasma
5
27
1.88
0.69
2.2
3.7
—
—
—
0
0
(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection
5
27
1.88
0.69
2.0
2.0
—
—
—
0
0
(3002582) Erythrocytes [#/volume] in Urine
38
309
1.32
0.69
6.2
3.3
e6/l
19.5
53.6
1.35
32
236
(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)
79
871
0.78
0.68
28.3
14.2
ml/min/173m2
73.9
73.9
0.01
70
700
(1002224) Polysomnography panel
5
28
1.81
0.67
1.0
1.2
—
—
—
0
0
(3023368) Bacteria identified in Blood by Culture
37
303
1.30
0.64
6.2
3.7
—
—
—
0
0
(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection
15
106
1.47
0.60
2.1
1.5
—
—
—
0
0
(40768800) Prostate Pathology biopsy report
0
21
0.00
0.60
0.0
1.2
—
—
—
0
0
(40761535) Cells panel - Urine sediment
13
89
1.51
0.60
8.3
3.2
—
—
—
0
0
(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection
6
35
1.75
0.58
1.2
1.9
—
—
—
0
0
(3041096) Erythrocytes [Presence] in Urine by Automated
34
279
1.29
0.58
5.3
3.8
—
—
—
0
0
(3009508) Creatinine [Moles/volume] in Urine
35
290
1.28
0.55
4.7
3.0
mmol/l
6.3
7.5
1.31
28
234
(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma
82
749
1.23
0.54
12.9
6.5
u/l
83.5
79.2
0.47
77
690
(3046279) Procalcitonin [Mass/volume] in Serum or Plasma
6
39
1.56
0.53
2.0
1.5
ug/l
0.2
1.4
—
6
31
(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection
41
476
0.80
0.52
2.5
2.7
—
—
—
0
0
(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma
51
445
1.23
0.52
9.0
5.2
mmol/l
1.2
1.2
0.25
46
392
(3002256) Pathology report gross observation
7
110
0.62
0.50
1.0
1.3
—
—
—
0
0
(3032080) INR in Blood by Coagulation assay
49
427
1.23
0.50
15.8
9.1
inr
1.1
1.3
—
7
124
(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma
26
210
1.29
0.50
2.5
2.9
mmol/l
2.5
2.5
0.07
20
183
(3021879) Hepatitis B virus core Ab [Presence] in Serum
7
45
1.58
0.50
1.1
1.2
—
—
—
0
0
(1761868) Lipid panel - Serum or Plasma
22
274
0.77
0.49
2.4
3.3
—
—
—
0
0
(3018095) Leukocytes [#/volume] in Urine
41
352
1.23
0.48
7.3
3.8
e6/l
11.8
109.0
2.84
33
250
(4035726)
11
78
1.45
0.44
1.4
1.2
—
—
—
0
0
(3019284) Hepatitis B virus surface Ag [Presence] in Serum
12
87
1.42
0.44
1.6
1.5
—
—
—
0
0
(44816559) Phosphatidylethanol [Mass/volume] in Blood
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
(3045424) Erythrocytes [Presence] in Urine
0
16
0.00
0.41
0.0
1.2
—
—
—
0
0
(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma
5
34
1.49
0.41
1.0
2.3
u/l
46.8
42.5
—
5
29
(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection
6
41
1.48
0.36
1.2
2.0
—
—
—
0
0
(40768804) Tissue Pathology biopsy report
32
368
0.83
0.36
1.9
2.0
—
—
—
0
0
(3020891) Body temperature
6
42
1.45
0.36
11.5
3.6
—
—
—
0
0
(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma
47
425
1.16
0.31
5.8
4.2
ng/l
59.1
52.9
0.09
37
323
(3033319) Streptococcus pyogenes Ag [Presence] in Throat
7
57
1.24
0.29
1.4
1.5
—
—
—
0
0
(3012516) Albumin [Mass/volume] in Urine
32
282
1.18
0.29
5.0
3.1
mg/l
69.8
321.1
0.55
21
176
(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma
24
206
1.20
0.28
4.1
3.5
ng/l
516.4
165.1
0.64
19
169
(36031861) Influenza virus A and B and SARS-CoV-2 (COVID-19) and Respiratory syncytial virus RNA panel - Respiratory system specimen by NAA with probe detection
8
62
1.31
0.28
1.9
1.6
—
—
—
0
0
(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma
64
683
0.88
0.26
5.4
3.9
pmol/l
15.4
15.0
0.55
58
596
(40761536) Microorganisms panel - Urine sediment
5
74
0.66
0.26
5.0
3.6
—
—
—
0
0
(43054914) Glucose tolerance 2 hours panel - Serum or Plasma
5
75
0.65
0.26
2.2
1.7
—
—
—
0
0
(3008152) Bicarbonate [Moles/volume] in Arterial blood
9
72
1.27
0.26
8.6
5.7
mmol/l
26.3
24.3
—
9
67
(3003694) ABO and Rh group [Type] in Blood
26
227
1.18
0.26
1.5
1.4
—
—
—
0
0
(3000850) Epithelial cells [#/volume] in Urine
24
209
1.18
0.25
5.3
2.6
e6/l
5.6
4.1
0.18
24
182
(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal
5
38
1.33
0.23
1.2
1.1
—
—
—
0
0
(3016502) Oxygen saturation in Arterial blood
13
107
1.24
0.22
6.5
5.9
%
95.4
94.8
0.17
13
101
(46235355) HIV 1 and 2 tests - Meaningful Use set
12
98
1.25
0.22
1.7
1.6
—
—
—
0
0
(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain
0
11
0.00
0.21
0.0
1.5
—
—
—
0
0
(3005988) Vibrio sp identified in Specimen by Organism specific culture
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection
0
11
0.00
0.21
0.0
1.2
—
—
—
0
0
(3024522) Salmonella sp identified in Specimen by Organism specific culture
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3012568) Campylobacter sp identified in Specimen by Organism specific culture
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3044242) Glucose [Moles/volume] in Arterial blood
0
10
0.00
0.21
0.0
1.7
—
—
—
0
0
(3025468) Yersinia sp identified in Specimen by Organism specific culture
0
10
0.00
0.21
0.0
1.2
—
—
—
0
0
(3017569) Oxygen content in Arterial blood
0
10
0.00
0.21
0.0
2.0
—
—
—
0
0
(40768797) Stomach Pathology biopsy report
14
117
1.22
0.21
1.9
1.2
—
—
—
0
0
(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma
0
12
0.00
0.21
0.0
1.7
—
—
—
0
0
(3039443) Prostate specific Ag panel - Serum or Plasma
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
(3043238) Trisomy 21 risk [Likelihood] in Fetus
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma
0
13
0.00
0.21
0.0
1.8
—
—
—
0
0
(3005033) Fetal Nuchal fold Thickness US
0
13
0.00
0.21
0.0
1.7
—
—
—
0
0
(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay
0
13
0.00
0.21
0.0
1.2
—
—
—
0
0
(3047352) Trisomy 18 risk [Likelihood] in Fetus
0
13
0.00
0.21
0.0
1.7
—
—
—
0
0
(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum
6
48
1.26
0.20
1.5
1.3
—
33.9
—
0
5
(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma
0
14
0.00
0.20
0.0
1.9
—
—
—
0
0
(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma
0
14
0.00
0.20
0.0
1.6
—
—
—
0
0
(3027801) Oxygen [Partial pressure] in Arterial blood
14
118
1.21
0.20
6.4
5.5
kpa
11.3
11.2
0.03
14
111
(3027946) Carbon dioxide [Partial pressure] in Arterial blood
14
118
1.21
0.20
6.4
5.5
kpa
5.1
5.0
0.16
14
110
(3019832) Treponema pallidum Ab [Presence] in Serum
6
51
1.18
0.19
2.3
1.7
—
—
—
0
0
(3000494) Fungus identified in Specimen by Culture
13
109
1.21
0.19
1.5
1.3
—
—
—
0
0
(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture
13
109
1.21
0.19
4.4
3.1
—
—
—
0
0
(3037467) Urinalysis macro (dipstick) panel - Urine
71
677
1.10
0.18
6.4
4.4
—
—
—
0
0
(3044889) 12 lead EKG panel
66
692
0.91
0.18
5.5
3.9
—
—
—
0
0
(3029937) Albumin [Presence] in Urine by Test strip
25
276
0.89
0.17
7.6
4.1
estimate
0.0
0.0
—
5
78
(4010399)
6
78
0.76
0.16
1.0
1.3
—
—
—
0
0
(3022145) Colonoscopy Study observation
7
88
0.78
0.15
1.1
1.3
—
—
—
0
0
(40768443) Skin Pathology biopsy report
5
47
1.07
0.09
1.4
1.1
—
—
—
0
0
(3023024) Carbon dioxide [Partial pressure] in Capillary blood
6
73
0.81
0.08
2.5
3.5
kpa
5.2
5.2
—
6
66
(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep
9
101
0.88
0.06
1.6
1.4
—
—
—
0
0
(36304419) Bacteria [Presence] in Urine
27
257
1.06
0.06
6.6
2.9
—
—
—
0
0
(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection
17
163
1.05
0.01
2.1
1.6
—
—
—
0
0
(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma
12
126
0.95
0.00
13.6
9.1
—
—
—
0
0
(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture
12
123
0.97
0.00
1.9
1.5
—
—
—
0
0
(3020460) C reactive protein [Mass/volume] in Serum or Plasma
94
939
1.00
0.00
30.2
14.8
mg/l
27.8
26.0
0.18
88
756
(3013512) EKG study
29
288
1.01
0.00
8.1
4.3
—
—
—
0
0
(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum
14
135
1.04
0.00
1.1
1.3
u/ml
41.5
12.8
—
8
52
(3013139) Helicobacter pylori Ag [Presence] in Stool
5
49
1.02
0.00
1.8
1.3
—
—
—
0
0
(3022689) Creatine [Moles/volume] in Urine
0
5
0.00
0.00
0.0
1.8
—
—
—
0
0
(3035947) Staphylolysin Ab [Units/volume] in Serum
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3050898) Methicillin resistant Staphylococcus aureus [Presence] in Genital specimen by Organism specific culture
0
5
0.00
0.00
0.0
3.0
—
—
—
0
0
(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection
0
9
0.00
0.00
0.0
1.2
—
—
—
0
0
(3004451) EKG impression Narrative
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3002523) Influenza virus A Ag [Presence] in Specimen
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma
0
6
0.00
0.00
0.0
3.8
—
—
—
0
0
(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3042975) Streptococcus sp identified in Isolate by Organism specific culture
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3012447) Hantavirus puumala IgG Ab [Titer] in Serum
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(37021247) Adenovirus 40+41 DNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection
0
6
0.00
0.00
0.0
1.5
—
—
—
0
0
(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration
0
6
0.00
0.00
0.0
2.2
—
—
—
0
0
(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(4281824)
0
7
0.00
0.00
0.0
1.0
—
—
—
0
0
(3042631) Mycobacterium sp identified in Specimen
0
7
0.00
0.00
0.0
1.6
—
—
—
0
0
(3023511) Choriogonadotropin [Units/volume] in Urine
0
7
0.00
0.00
0.0
1.4
—
—
—
0
0
(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3009542) Hematocrit [Volume Fraction] of Blood
80
800
1.00
0.00
44.3
15.6
%
28.2
38.9
5.12
56
530
(3003740) Influenza virus B Ag [Presence] in Specimen
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3023410) Appearance of Cerebral spinal fluid
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(37020445) Astrovirus RNA [Presence] in Stool by NAA with probe detection
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(3014037) CD3+CD4+ (T4 helper) cells/100 cells in Blood
0
6
0.00
0.00
0.0
3.5
—
—
—
0
0
(3016914) Bacteria identified in Cerebral spinal fluid by Culture
0
7
0.00
0.00
0.0
1.7
—
—
—
0
0
(3025018) Bordetella pertussis Ab [Titer] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3045716) Anion gap in Serum or Plasma
0
8
0.00
0.00
0.0
2.8
—
8.7
—
0
8
(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count
0
5
0.00
0.00
0.0
4.0
—
—
—
0
0
(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum
0
6
0.00
0.00
0.0
1.3
—
—
—
0
0
(3009991) Angiotensin converting enzyme [Enzymatic activity/volume] in Cerebral spinal fluid
0
5
0.00
0.00
0.0
1.2
—
1.3
—
0
5
(4024509)
0
9
0.00
0.00
0.0
1.1
—
—
—
0
0
(3019060) Gas panel - Arterial blood
7
73
0.96
0.00
5.6
3.5
—
—
—
0
0
(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.2
—
12.4
—
0
5
(3047007) Chlamydophila sp Ab [Presence] in Serum
0
8
0.00
0.00
0.0
1.1
—
—
—
0
0
(3005082) Progesterone [Moles/volume] in Serum or Plasma
0
5
0.00
0.00
0.0
1.0
—
33.3
—
0
5
(40759836) Histone Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(4146454)
0
8
0.00
0.00
0.0
2.4
—
—
—
0
0
(3035933) Granulocytes/100 leukocytes in Blood
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot
0
7
0.00
0.00
0.0
1.1
—
—
—
0
0
(3000492) Spirometry study
5
51
0.98
0.00
1.4
1.5
—
—
—
0
0
(3053028) Streptococcus sp identified in Specimen by Organism specific culture
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot
0
5
0.00
0.00
0.0
1.0
—
—
—
0
0
(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection
0
8
0.00
0.00
0.0
1.0
—
—
—
0
0

Mortality – FinRegistry

↥

Association

Association between endpoint D3_SIDEROANAEMIAHERED and mortality.

Females

Parameter HR [95% CI] p-value
D3_SIDEROANAEMIAHERED 2.507 [1.96, 3.21] < 0.001
Birth year 0.997 [0.99, 1.01] 0.451

During the follow-up period (1.1.1998 — 31.12.2019), 458 out of 704 females with D3_SIDEROANAEMIAHERED died.

Males

Parameter HR [95% CI] p-value
D3_SIDEROANAEMIAHERED 3.112 [2.13, 4.54] < 0.001
Birth year 0.981 [0.97, 0.99] < 0.001

During the follow-up period (1.1.1998 — 31.12.2019), 380 out of 549 males with D3_SIDEROANAEMIAHERED died.

Mortality risk

Mortality risk for people of age

years, who have D3_SIDEROANAEMIAHERED.

N-year risk Females Males
1 0.255% 0.493%
5 1.629% 2.828%
10 3.978% 6.662%
15 7.385% 12.715%
20 12.639% 21.601%

Relationships between endpoints

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Index endpoint: D3_SIDEROANAEMIAHERED – Hereditary sideroblastic anaemia

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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