Other sideroblastic anaemias

D3_SIDEROANAMIEAOTHER

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 rule None	519972
2. Check conditions None	519972
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.	141
4. Check minimum number of events None	141
5. Include endpoints None	141
6. Filter based on genotype QC (FinnGen only)	138

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

NAME	D3_SIDEROANAMIEAOTHER
CONTROL_EXCLUDE	D3_APLASTICANDOTHANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D643
HD_ICD_9	2850X
HD_ICD_8	28500
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D643
COD_ICD_9	2850X
COD_ICD_8	28500
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Similar endpoints

↥

List of similar endpoints to Other sideroblastic anaemias based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

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	138	68	70
Unadjusted period prevalence (%)	0.03	0.02	0.03
Median age at first event (years)	66.46	62.89	69.93

-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

↥

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
141: Matched controls
1410

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D64.3

ICD-10 Finland

Other sideroblastic anaemias

+∞

166.6

125

D64.9

ICD-10 Finland

Anaemia, unspecified

56.2

112.8

D50.9

ICD-10 Finland

Iron deficiency anaemia, unspecified

11.7

33.7

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

5.2

21.4

259

B82

ICPC

Anaemia other/unspecified

22.4

18.1

D50.0

ICD-10 Finland

Iron deficiency anaemia secondary to blood loss (chronic)

21.7

13.3

28500

ICD-8 Finland

Other and unspecified anaemias, Hypochromic anaemia with iron loading

+∞

12.7

UJF92

NOMESCO Finland

Capsular endoscopy

27.7

11.4

N18.9

ICD-10 Finland

Chronic kidney disease, unspecified

5.6

10.2

WW500

NOMESCO Finland

Blood transfusion

9.5

10.0

UJF32

NOMESCO Finland

Coloscopy

3.3

10.0

219

ZX120

NOMESCO Finland

Intravenous

4.2

9.2

XW000

NOMESCO Finland

Bone marrow biopsy

9.5

8.6

D64.0

ICD-10 Finland

Hereditary sideroblastic anaemia

+∞

7.3

D50.8

ICD-10 Finland

Other iron deficiency anaemias

21.4

7.2

138

Kela drug reimbursment

Severe anaemia associated with chronic renal failure

14.8

7.0

Z03.9

ICD-10 Finland

Observation for suspected disease or condition, unspecified

3.0

6.9

138

B03XA02

ATC

darbepoetin alfa; parenteral

13.1

6.7

A04

ICPC

Weakness/tiredness general

3.1

6.6

122

B80

ICPC

Iron deficiency anaemia

28.1

6.3

E11.9

ICD-10 Finland

Type 2 diabetes mellitus, without complications

2.6

6.2

242

E11.8

ICD-10 Finland

Type 2 diabetes mellitus, with unspecified complications

3.3

6.2

A10BA02

ATC

metformin; oral

2.5

6.1

266

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

245

4.96

20.05

4.2

1.8

3.87

3.05

mg/l

1.70

204

(3001122) Ferritin [Mass/volume] in Serum or Plasma

396

3.56

12.47

7.8

2.4

202.74

119.88

ug/l

1.48

353

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

8.25

7.11

1.3

2.4

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

3.80

6.43

1.5

1.2

—

(3012544) pH of Venous blood

3.24

5.88

5.8

3.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

442

2.35

5.84

10.9

5.9

—

(3002032) Base excess in Venous blood by calculation

3.16

5.47

6.0

3.3

0.51

1.41

mmol/l

0.26

(40758558) Short blood count panel - Blood

255

2.34

5.06

15.3

6.7

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

3.71

4.91

4.6

3.7

49.91

44.43

0.29

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

355

2.20

4.85

7.0

3.1

2088.72

1471.55

ng/l

0.60

291

(3020779) Urea [Moles/volume] in Serum or Plasma

3.03

4.59

21.6

4.9

12.98

10.31

mmol/l

0.73

(3029879) Epithelial cells.squamous [#/volume] in Urine by Automated count

168

2.44

4.58

3.0

4.21

2.59

e6/l

0.46

(3000991) Gas panel - Venous blood

2.98

4.11

13.2

7.6

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.98

4.11

1.2

2.2

—

(40768797) Stomach Pathology biopsy report

129

2.46

3.97

1.4

1.2

—

(3001604) Monocytes [#/volume] in Blood

485

1.99

3.91

10.0

5.2

0.60

e9/l

0.05

418

(3013115) Eosinophils [#/volume] in Blood

504

1.99

3.89

12.6

5.3

0.17

0.18

e9/l

0.52

444

(3006315) Basophils [#/volume] in Blood

486

1.98

3.88

10.1

5.2

0.04

e9/l

0.11

419

(43054903) Holo-transcobalamin II [Moles/volume] in Serum

451

1.98

3.85

2.4

1.9

91.08

100.11

pmol/l

0.91

213

(3016431) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Serum or Plasma

520

1.94

3.68

11.4

5.6

1.21

1.22

mmol/l

0.60

438

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

2.66

3.68

2.4

2.6

28.53

33.11

u/l

0.55

(3043924) Respiratory syncytial virus RNA [Identifier] in Specimen by NAA with probe detection

115

2.43

3.55

2.4

1.7

—

(3038288) Influenza virus B RNA [Presence] in Specimen by NAA with probe detection

117

2.38

3.41

2.4

1.8

—

(3030306) Epithelial cells.non-squamous [#/volume] in Urine by Automated count

175

2.16

3.37

2.7

2.8

0.73

1.21

e6/l

0.81

105

(3044938) Influenza virus A RNA [Presence] in Specimen by NAA with probe detection

168

2.17

3.35

2.6

1.9

—

(3018010) Neutrophils/100 leukocytes in Blood

466

1.83

3.10

11.3

5.3

60.64

58.30

0.71

428

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

3.45

3.02

2.0

2.6

—

(3050898) Methicillin resistant Staphylococcus aureus [Presence] in Genital specimen by Organism specific culture

10.30

3.00

4.8

1.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

112

2.26

2.87

1.7

1.6

—

(3051552) Clostridioides difficile toxin genes [Presence] in Stool by NAA with probe detection

2.47

2.81

1.5

—

(3029287) Urinalysis microscopic panel [#/volume] - Urine by Automated count

387

1.79

2.79

4.1

3.1

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.51

2.78

8.8

3.7

0.14

0.22

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

478

1.77

2.77

11.6

4.9

1.21

1.22

mmol/l

0.55

425

(3026008) Bacteria identified in Urine by Culture

353

1.80

2.76

3.5

3.3

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.53

2.67

8.3

3.7

0.50

0.34

—

(3021589) Normoblasts [#/volume] in Blood

446

1.75

2.64

15.5

9.3

0.00

0.01

e9/l

0.21

361

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

3.77

2.62

1.3

1.5

—

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

3.77

2.62

6.3

1.8

3.18

3.72

g/l

—

(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

2.67

2.62

2.3

1.7

—

(3018418) pH of Serum or Plasma

315

1.79

2.60

8.3

3.8

7.40

—

(3045788) Cell count panel - Pleural fluid

5.64

2.57

1.5

1.2

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.62

2.54

2.4

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

4.54

2.51

2.4

2.2

—

(3013650) Neutrophils [#/volume] in Blood by Automated count

574

1.70

2.48

21.5

9.1

3.89

4.13

e9/l

0.49

500

(3023368) Bacteria identified in Blood by Culture

296

1.76

2.40

7.1

3.9

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

410

1.70

2.40

2.7

2.2

75.30

78.61

nmol/l

0.48

347

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

6.43

2.39

3.6

2.9

—

(36304419) Bacteria [Presence] in Urine

290

1.75

2.32

3.7

2.9

—

(3002582) Erythrocytes [#/volume] in Urine

334

1.72

2.29

4.0

3.0

26.35

74.94

e6/l

0.90

259

(3017181) Myelocytes/100 leukocytes in Blood

2.28

2.29

9.7

3.6

2.14

1.03

—

(3000012) Reticulocyte production index

4.77

2.29

2.0

1.7

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

4.03

2.28

1.7

1.4

—

(3025159) Blasts/100 leukocytes in Blood

2.39

2.27

9.9

3.9

0.00

0.05

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

131

2.00

2.25

8.5

5.7

103.13

104.10

mmol/l

0.36

131

(3045414) Leukocytes [Presence] in Urine

2.91

2.18

3.7

2.1

—

(40760888) Immunoglobulin light chains.free panel - Serum

3.82

2.18

2.1

4.2

—

(3019800) Troponin T.cardiac [Mass/volume] in Serum or Plasma

429

1.65

2.14

6.0

4.0

32.67

56.46

ng/l

1.03

304

(3014051) Protein [Presence] in Urine by Test strip

3.33

2.13

4.4

2.6

—

(3022217) INR in Platelet poor plasma by Coagulation assay

534

1.62

2.09

25.0

15.7

1.28

1.29

inr

0.05

143

(3007164) IgA [Mass/volume] in Serum or Plasma

166

1.86

2.07

1.4

1.3

3.26

2.48

g/l

0.36

(3034770) Mitochondria Ab [Titer] in Serum

4.13

2.06

1.2

1.1

—

(3042936) Bacteria identified in Isolate by Culture

151

1.89

2.05

2.7

1.9

—

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

2.93

2.04

1.2

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

816

1.66

2.01

14.4

6.6

84.18

77.48

u/l

0.89

746

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.57

1.98

1.1

1.5

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.57

1.98

1.1

1.5

7.04

7.81

g/l

0.75

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.57

1.98

1.1

1.5

4.43

3.54

g/l

0.45

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

4.67

1.96

1.2

1.9

—

(3044927) Protein electrophoresis panel - Urine

4.67

1.96

1.0

1.1

—

(3012441) Differential panel - Pleural fluid

4.67

1.96

1.2

1.8

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

4.67

1.96

1.4

1.3

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

3.87

1.95

2.0

2.1

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.90

0.0

1.2

—

(46236098) ABO and Rh group [Type] in Blood by Confirmatory method

246

1.68

1.86

13.5

2.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

4.28

1.84

2.4

1.7

33.80

31.50

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

4.28

1.84

1.0

1.7

—

(1761868) Lipid panel - Serum or Plasma

316

0.54

1.73

2.9

3.2

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

3.94

1.73

1.0

1.7

—

nmol/l

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

3.25

1.68

2.3

1.8

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

622

1.52

1.67

8.2

4.1

7.24

6.70

mmol/l

1.36

580

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

2.17

1.65

2.2

3.1

1.95

2.06

mmol/l

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

3.66

1.63

2.2

2.1

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.42

1.62

1.1

1.5

3.24

3.06

g/l

—

(3028026) IgM [Mass/volume] in Serum or Plasma

2.30

1.61

1.4

1.7

2.17

1.86

g/l

0.09

(3044640) Blood type and Crossmatch panel - Blood

337

1.54

10.0

2.2

—

(3000330) Specific gravity of Urine by Test strip

2.10

1.54

5.5

3.9

—

(40768806) Pleura Pathology biopsy report

3.41

1.53

1.6

2.3

—

(3013707) Erythrocyte sedimentation rate by Westergren method

750

1.51

1.52

5.4

4.1

20.90

13.19

mm/h

2.21

670

(3004119) Hemoglobin [Mass/volume] in Venous blood

2.13

1.48

4.5

2.9

122.25

126.46

g/l

0.27

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

2.27

1.40

1.1

1.4

15.39

10.26

g/l

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

3.01

1.37

2.6

1.6

—

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

188

1.61

1.35

1.2

0.84

0.79

u/ml

—

(3033658) Prothrombin time (PT) actual/Normal

260

1.52

1.27

8.4

3.3

74.03

86.61

2.10

254

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

2.29

1.26

1.1

1.5

34.45

36.45

g/l

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

2.69

1.22

1.2

1.3

0.20

0.23

g/l

—

(3005719) IgG [Mass/volume] in Serum or Plasma

1.96

1.22

4.1

1.9

16.14

9.73

g/l

1.01

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

1.86

1.22

3.2

3.5

59.00

61.20

ml/min/173m2

—

(3018095) Leukocytes [#/volume] in Urine

381

1.44

1.20

4.6

3.7

62.23

70.99

e6/l

0.07

277

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

2.36

1.20

2.3

1.7

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

2.08

1.19

5.3

3.1

23.89

24.60

mmol/l

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

2.55

1.16

1.2

1.3

0.91

1.14

g/l

—

(3008037) Lactate [Moles/volume] in Venous blood

2.40

1.14

2.0

3.1

1.33

1.51

mmol/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

713

1.40

1.14

5.1

4.3

—

(3019150) Specific gravity of Urine by Refractometry

223

1.50

1.11

4.5

4.9

1.01

kg/l

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.79

1.10

2.0

3.2

1.24

1.23

mmol/l

0.29

(3022313) Gas panel - Capillary blood

2.07

1.07

2.0

3.0

—

(3047169) Lambda light chains.free [Mass/volume] in Serum or Plasma

2.18

1.07

2.1

3.0

89.94

33.25

mg/l

—

(3034860) Kappa light chains.free [Mass/volume] in Serum

2.18

1.07

2.1

3.0

115.20

251.07

mg/l

—

(3031040) Bacteria [#/volume] in Urine by Automated count

688

1.38

1.06

6.0

4.7

—

4312.62

—

(3048929) Epstein Barr virus Ab [Presence] in Serum

2.32

1.04

1.8

1.1

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.89

1.01

5.6

2.3

1.60

1.29

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

2.27

0.94

2.3

1.7

—

(3001079) Blood group antibody screen [Presence] in Serum or Plasma

491

1.35

0.93

10.5

2.4

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

2.19

0.92

8.8

1.5

86.00

90.11

—

(3020460) C reactive protein [Mass/volume] in Serum or Plasma

110

1010

1.41

0.89

33.3

14.4

25.64

24.92

mg/l

0.09

810

(3024135) Streptococcus.beta-hemolytic [Presence] in Throat by Organism specific culture

139

0.55

0.89

1.6

1.4

—

(4034850) Laboratory test

2.04

0.88

24.7

16.7

—

(3028626) Oxygen [Partial pressure] in Capillary blood

2.04

0.88

2.2

2.4

8.25

7.86

kpa

—

(3038515) Glucose [Moles/volume] in Venous blood

2.04

0.88

2.0

3.1

7.17

7.60

mmol/l

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.80

0.0

1.2

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.80

0.0

1.9

—

(3045783) Sodium and Potassium panel [Moles/volume] - Serum or Plasma

125

1.50

0.77

19.7

8.9

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

249

1.37

0.76

1.7

1.8

546.15

449.65

pmol/l

0.66

205

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

2.04

0.73

1.0

1.1

—

(3022621) pH of Urine by Test strip

1.61

0.71

3.7

3.3

—

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

235

1.35

0.69

9.6

1.6

1.26

1.49

mg/l

0.27

181

(3017143) Hepatitis C virus Ab [Presence] in Serum

1.56

0.69

1.7

1.3

—

(40768804) Tissue Pathology biopsy report

413

1.29

0.68

2.2

—

(3019284) Hepatitis B virus surface Ag [Presence] in Serum

104

1.49

0.65

1.7

1.5

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

1.64

0.62

14.3

6.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.61

0.60

1.5

1.7

—

(3013512) EKG study

334

1.28

0.59

5.0

4.3

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.59

0.0

1.4

—

39.48

—

(3000492) Spirometry study

1.43

0.46

1.5

1.4

—

(40761535) Cells panel - Urine sediment

1.43

0.46

5.7

3.8

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.45

0.43

1.1

1.2

—

(3021879) Hepatitis B virus core Ab [Presence] in Serum

1.38

0.42

1.4

1.3

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.41

0.0

1.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.41

0.0

1.3

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

1.48

0.36

1.7

3.1

1.63

1.52

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

1.41

0.35

2.0

2.1

—

(3021601) Nitrite [Presence] in Urine by Test strip

490

1.17

0.34

6.5

5.7

0.00

estimate

—

(3002256) Pathology report gross observation

128

1.28

0.33

1.3

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

932

1.17

0.33

6.9

6.1

41.29

40.40

mmol/mol

0.34

854

(46235355) HIV 1 and 2 tests - Meaningful Use set

129

1.27

0.32

1.6

1.7

—

(3026989) Triiodothyronine (T3) Free [Moles/volume] in Serum or Plasma

1.34

0.31

3.9

3.5

3.34

4.40

pmol/l

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

300

0.84

0.30

3.7

4.5

15.58

21.44

—

153

(3044889) 12 lead EKG panel

723

1.14

0.30

4.6

4.0

—

(36660697) Celiac disease serology panel - Serum

1.29

0.28

1.3

1.2

—

(3029937) Albumin [Presence] in Urine by Test strip

273

1.17

0.28

4.0

4.5

0.00

estimate

—

(3000494) Fungus identified in Specimen by Culture

122

1.26

0.28

1.2

1.4

—

(3009508) Creatinine [Moles/volume] in Urine

313

1.16

0.26

3.4

3.0

7.37

7.15

mmol/l

0.11

253

(4200892) Spirometry reversibility

0.66

0.26

1.2

1.3

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

377

0.87

0.25

4.4

5.2

2.69

2.99

ug/l

0.11

329

(3035350) Ketones [Presence] in Urine by Test strip

491

1.13

0.24

5.1

4.3

0.00

estimate

-0.00

(3020891) Body temperature

1.33

0.23

11.4

4.1

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

1.33

0.23

3.8

2.3

25.54

24.70

mmol/l

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.29

0.23

1.2

1.1

—

(3009261) Glucose [Presence] in Urine by Test strip

494

1.12

0.22

5.1

4.3

0.00

estimate

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

105

0.75

0.22

4.4

3.6

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.21

0.0

3.2

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.21

0.0

1.6

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

4.82

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

1.62

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.21

0.0

1.2

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.21

0.0

2.2

—

(3019225) pH of Specimen

108

1.22

0.21

4.8

3.3

—

(40761511) CBC panel - Blood by Automated count

107

1038

1.13

0.20

33.6

13.6

—

(706163) SARS-CoV-2 (COVID-19) RNA [Presence] in Respiratory system specimen by NAA with probe detection

526

1.11

0.20

2.7

2.8

—

(3003510) Neisseria gonorrhoeae DNA [Presence] in Urine by NAA with probe detection

1.16

0.18

1.4

1.6

—

(3008152) Bicarbonate [Moles/volume] in Arterial blood

0.74

0.17

6.4

5.6

24.92

24.44

mmol/l

—

(3025941) Bacteria identified in Stool by Culture

1.12

0.16

1.4

1.3

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

977

0.92

0.15

4.3

4.6

4.02

4.55

mmol/l

4.91

891

(43054914) Glucose tolerance 2 hours panel - Serum or Plasma

0.80

0.15

2.4

1.8

—

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

993

0.93

0.12

4.6

5.2

2.25

2.64

mmol/l

4.13

903

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

746

1.07

0.12

3.9

3.8

14.70

14.93

pmol/l

0.30

665

(3020682) Albumin/Creatinine [Ratio] in Urine

329

1.08

0.11

3.6

3.7

8.62

11.43

mg/mmol

0.20

200

(40763086) Leukocyte esterase [Presence] in Urine by Automated test strip

390

1.07

0.10

5.1

4.5

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

970

0.94

0.10

4.4

4.6

1.38

1.48

mmol/l

1.09

882

(40764999) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (CKD-EPI)

940

1.07

0.09

29.0

14.2

73.83

76.21

ml/min/173m2

0.40

759

(40768443) Skin Pathology biopsy report

1.07

0.09

1.2

—

(3024731) MCV [Entitic volume]

112

1102

1.08

0.09

54.7

21.4

90.47

91.35

0.67

112

1078

(3035941) MCH [Entitic mass]

112

1103

1.07

0.08

54.7

21.3

29.43

30.36

2.92

112

1079

(3000963) Hemoglobin [Mass/volume] in Blood

112

1103

1.07

0.08

55.2

21.5

118.78

134.23

g/l

15.08

112

1077

(3003694) ABO and Rh group [Type] in Blood

274

1.07

0.08

1.6

1.3

—

(3011397) Hemoglobin [Presence] in Urine by Test strip

229

1.06

0.04

4.6

4.3

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

981

0.96

0.03

5.5

4.9

6.28

6.03

mmol/l

1.07

886

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

920

1.03

0.03

4.6

4.7

1.87

2.03

mu/l

0.70

819

(3018006) Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep

118

0.93

0.03

1.1

1.3

—

(4035726) Immunohistochemistry procedure

1.08

0.02

1.5

—

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

217

0.96

0.01

3.1

3.0

0.57

0.78

ug/l

0.98

154

(3048773) Triglyceride [Moles/volume] in Serum or Plasma --fasting

937

0.98

0.01

4.0

4.1

1.19

1.27

mmol/l

0.65

844

(3012516) Albumin [Mass/volume] in Urine

304

0.98

0.00

3.3

3.1

54.72

499.18

mg/l

0.84

191

(3022145) Colonoscopy Study observation

105

1.05

0.00

1.4

1.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

278

1.01

0.00

5.3

3.7

—

(3015736) pH of Urine

394

0.99

0.00

4.7

4.0

—

5.84

—

(3024950) Chlamydia trachomatis DNA [Presence] in Urine by NAA with probe detection

1.02

0.00

2.0

1.8

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

63.80

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.6

—

74.80

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

3.3

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

-0.00

0.0

2.0

—

2.90

—

(40761536) Microorganisms panel - Urine sediment

1.00

-0.00

3.9

4.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

(3026285) Alpha 1 antitrypsin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

1.41

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

-0.00

0.0

1.2

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

(3022756) Ceruloplasmin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

278.50

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3019060) Gas panel - Arterial blood

0.96

-0.00

2.7

3.2

—

(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum

0.00

-0.00

0.0

1.6

—

18.28

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

3.3

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

85.65

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3021197) Magnesium Ionized [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.0

—

5.30

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

-0.00

0.0

1.8

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

3.6

—

(3011648) Oxygen content in Venous blood

0.00

-0.00

0.0

1.0

—

11.00

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

1.66

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.6

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.5

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

11.80

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

0.00

-0.00

0.0

2.8

—

28.40

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

-0.00

0.0

1.1

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/100 cells in Blood

0.00

-0.00

0.0

2.6

—

10.60

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

(3006245) CD3-CD19+ cells/100 cells in Blood

0.00

-0.00

0.0

3.0

—

3.00

—

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

Loading data

Other sideroblastic anaemias

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

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

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints