Hereditary sideroblastic anaemia

D3_SIDEROANAEMIAHERED

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

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	159
4. Check minimum number of events None	159
5. Include endpoints None	159
6. Filter based on genotype QC (FinnGen only)	134

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

NAME	D3_SIDEROANAEMIAHERED
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	D640
HD_ICD_9	2850A
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D640
COD_ICD_9	2850A
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Hereditary sideroblastic anaemia 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	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	134	65	69
Unadjusted period prevalence (%)	0.03	0.02	0.03
Median age at first event (years)	68.10	65.63	70.42

-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

D64.0

ICD-10 Finland

Hereditary sideroblastic anaemia

+∞

195.1

138

D64.9

ICD-10 Finland

Anaemia, unspecified

65.6

133.2

D50.9

ICD-10 Finland

Iron deficiency anaemia, unspecified

13.1

42.5

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

5.8

24.3

255

UJF32

NOMESCO Finland

Coloscopy

4.9

19.5

219

D50.0

ICD-10 Finland

Iron deficiency anaemia secondary to blood loss (chronic)

12.9

13.7

K44.9

ICD-10 Finland

Diaphragmatic hernia without obstruction or gangrene

5.2

11.3

WW500

NOMESCO Finland

Blood transfusion

10.1

10.7

UJF92

NOMESCO Finland

Capsular endoscopy

35.5

10.5

D50.8

ICD-10 Finland

Other iron deficiency anaemias

35.5

10.5

C03CA01

ATC

furosemide; systemic

3.0

9.3

472

D64.8

ICD-10 Finland

Other specified anaemias

20.3

9.1

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

3.6

8.3

107

XW000

NOMESCO Finland

Bone marrow biopsy

8.9

7.8

ZX120

NOMESCO Finland

Intravenous

3.6

7.8

UJD02

NOMESCO Finland

Gastroscopy

6.5

7.5

K55.2

ICD-10 Finland

Angiodysplasia of colon

84.3

7.5

D46.0

ICD-10 Finland

Refractory anaemia without ring sideroblasts, so stated

84.3

7.5

D46.9

ICD-10 Finland

Myelodysplastic syndrome, unspecified

31.8

7.2

B03BA03

ATC

hydroxocobalamin; parenteral

4.4

7.2

Z04.8

ICD-10 Finland

Examination and observation for other specified reasons

3.5

6.6

D64.3

ICD-10 Finland

Other sideroblastic anaemias

+∞

6.3

TPH04

NOMESCO Finland

Cathetrisation of vein

2.7

6.2

186

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3022948) Iron [Moles/volume] in Serum or Plasma

179

4.27

14.87

5.9

2.1

12.78

12.87

umol/l

0.02

162

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

156

3.89

11.97

6.2

2.1

23.25

21.56

0.23

145

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

5.01

8.68

3.2

2.8

—

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

7.83

6.08

1.5

2.1

—

(3020630) Protein [Mass/volume] in Serum or Plasma

3.28

5.80

2.9

2.5

66.57

65.49

g/l

0.30

(3044640) Blood type and Crossmatch panel - Blood

331

2.28

5.19

13.2

2.6

—

(21494434) Karyotype in Bone marrow

14.02

5.14

1.5

1.0

—

(3045142) Bone marrow Pathology biopsy report

10.58

5.10

1.4

1.0

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

122

2.73

4.97

6.2

4.0

253.00

239.30

u/l

0.13

115

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

2.96

4.77

7.3

5.3

9.20

11.23

mmol/l

0.57

(1761482) Bacteria [#/volume] in Urine by Culture

3.70

4.61

4.4

5.5

—

(3019150) Specific gravity of Urine by Refractometry

251

2.24

4.48

6.7

4.7

1.02

kg/l

1.79

167

(3042111) Morphology [Interpretation] in Bone marrow Narrative

6.63

4.38

1.3

—

(3012544) pH of Venous blood

124

2.57

4.32

4.8

3.3

7.40

7.38

1.76

(3000330) Specific gravity of Urine by Test strip

2.98

4.11

4.9

4.3

1.01

1.02

ratio

1.36

(3023520) Reticulocytes [#/volume] in Blood

108

2.60

4.04

6.0

1.8

58.27

64.92

e9/l

0.42

(43055120) Cytomegalovirus DNA [Units/volume] (viral load) in Serum or Plasma by NAA with probe detection

7.63

3.91

1.4

1.6

—

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

257

2.10

3.84

6.7

4.0

0.00

0.29

—

(3035637) Corticotropin [Mass/volume] in Plasma

7.29

3.40

1.6

23.71

53.40

ng/l

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

3.89

3.16

4.9

1.9

1.41

1.75

mg/l

0.75

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

2.56

3.15

2.1

1.5

—

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

4.50

3.05

14.8

1.8

3.72

3.90

g/l

—

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

3.01

2.8

1.5

2.79

2.85

g/l

0.10

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

10.30

3.00

1.4

3.6

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.55

2.85

2.3

2.5

—

(3019309) Folate [Moles/volume] in Red Blood Cells

227

1.92

2.78

1.7

1132.25

1188.08

nmol/l

0.17

170

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

3.18

2.77

2.5

1.5

10.08

8.99

g/l

0.45

(21494815) CD4 cells/Lymphocytes in Specimen

8.58

2.77

1.2

2.5

47.44

38.27

—

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

2.82

2.71

2.8

1.5

4.40

4.36

g/l

0.04

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

2.82

2.71

2.8

1.5

3.77

3.32

g/l

0.63

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

2.82

2.71

2.8

1.5

7.55

7.52

g/l

0.02

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

296

1.82

2.67

6.5

3.5

0.00

0.18

0.47

(3001604) Monocytes [#/volume] in Blood

516

1.71

2.51

16.5

5.1

0.61

0.60

e9/l

0.13

445

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

461

1.71

2.49

10.8

2.9

—

estimate

—

(3006315) Basophils [#/volume] in Blood

517

1.70

2.48

16.5

5.1

0.04

e9/l

0.31

445

(42870588) Differential panel, method unspecified - Blood

330

1.74

2.41

15.7

4.4

—

(3000991) Gas panel - Venous blood

2.23

2.40

6.7

8.9

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

6.43

2.39

1.0

1.4

—

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

2.42

2.34

4.3

2.5

10.33

10.18

g/l

0.04

(3051014) Leukocytes [#/area] in Urine sediment by Automated count

4.77

2.29

2.0

2.2

—

3.67

—

(3013115) Eosinophils [#/volume] in Blood

536

1.65

2.25

18.1

5.2

0.17

0.20

e9/l

0.88

473

(3019198) Lymphocytes [#/volume] in Blood

527

1.65

2.24

16.5

5.2

1.89

1.90

e9/l

0.03

473

(3045788) Cell count panel - Pleural fluid

5.71

2.23

1.4

1.1

—

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

408

1.67

2.22

3.7

3.3

1777.07

1659.46

ng/l

0.09

351

(3007853) Bacteria identified in Skin by Aerobe culture

120

1.99

2.07

1.6

1.8

—

(3037522) Nuclear Ab [Titer] in Serum

115

1.97

1.96

1.3

251.43

418.67

titre

—

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

252

1.70

1.93

2.3

1.8

360.79

474.89

pmol/l

2.59

209

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

2.24

1.89

3.3

3.6

23.46

23.89

mmol/l

0.11

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

0.00

1.74

0.0

1.8

—

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

2.01

1.74

3.1

3.4

57.33

59.41

ml/min/173m2

—

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

563

1.53

1.68

9.6

6.8

1.23

1.21

mmol/l

0.64

494

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

2.17

1.65

1.2

—

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

2.78

1.60

1.1

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

3.09

1.60

1.5

1.6

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

3.09

1.60

1.5

1.6

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

1.53

0.0

1.6

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

168

1.67

1.45

8.3

1.6

30.40

29.35

0.39

163

(3015736) pH of Urine

452

1.48

1.44

6.4

3.8

6.63

6.27

1.48

250

(40760892) CBC W Ordered Manual Differential panel - Blood

211

1.60

1.41

7.2

5.2

—

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

3.01

1.37

2.6

1.8

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

2.56

1.32

1.7

1.1

—

(3024928) Oxygen saturation in Venous blood

2.56

1.32

1.0

2.5

65.13

57.16

—

(40761511) CBC panel - Blood by Automated count

998

0.69

1.31

31.4

14.9

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

321

1.49

1.30

3.8

2.8

27.93

30.20

u/l

0.41

303

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

2.12

1.29

1.6

1.2

—

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

585

1.43

1.28

22.4

8.4

4.35

4.24

e9/l

0.10

513

(3014765) Yersinia sp identified in Stool by Organism specific culture

2.46

1.25

1.2

—

(42529406) Shigella sp [Presence] in Stool by Culture

2.46

1.25

1.2

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

2.46

1.25

1.2

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

129

0.44

1.23

2.8

5.2

43.17

32.25

—

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

2.55

1.16

1.0

1.2

—

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

179

1.55

1.13

4.8

3.0

1.17

1.18

e6/l

0.01

100

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

2.32

1.12

1.0

1.3

—

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

189

1.53

1.10

1.4

1.3

2.91

2.59

g/l

0.38

102

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

304

0.64

1.09

4.6

4.9

23.65

21.56

0.34

155

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

174

1.53

1.04

5.0

3.2

3.00

2.21

e6/l

0.21

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

236

1.46

1.02

17.1

2.5

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.99

0.98

1.1

1.4

—

(3000475) Leukocytes [#/volume] in Synovial fluid

2.19

0.92

2.3

1.3

8145.33

6264.00

e6/l

—

(3018418) pH of Serum or Plasma

334

1.37

0.88

8.8

3.8

7.38

7.40

0.82

238

(3006184) Hemoglobin [Mass/volume] in Capillary blood

1.91

0.83

1.7

2.1

110.00

123.10

g/l

—

(3021589) Normoblasts [#/volume] in Blood

442

1.32

0.81

25.6

10.6

0.00

0.01

e9/l

0.29

355

(3026493) Urate [Moles/volume] in Serum or Plasma

284

1.36

0.79

4.4

2.8

361.69

354.70

umol/l

0.15

237

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

579

1.30

0.79

7.6

4.2

0.00

estimate

-0.00

120

(3033658) Prothrombin time (PT) actual/Normal

257

1.37

0.78

11.8

3.8

84.52

85.53

0.08

251

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

1.80

0.77

1.8

2.4

—

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

2.22

0.77

1.0

1.2

—

(3003327) Ova and parasites identified in Stool by Light microscopy

2.12

0.75

3.4

1.5

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

2.04

0.73

1.6

1.5

—

(3025941) Bacteria identified in Stool by Culture

1.62

0.73

1.2

—

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

136

1.46

0.71

2.1

1.7

—

(3016921) Smith extractable nuclear Ab [Units/volume] in Serum

1.96

0.71

1.0

1.3

—

2.28

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

1.96

0.71

1.0

1.2

—

(3006999) Ribonucleoprotein extractable nuclear Ab [Units/volume] in Serum

1.88

0.69

1.0

1.3

—

2.08

—

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

1.88

0.69

1.0

1.1

—

(1761868) Lipid panel - Serum or Plasma

310

0.73

0.68

3.0

3.7

—

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

385

1.29

0.67

7.2

3.3

—

(40768797) Stomach Pathology biopsy report

139

1.42

0.64

1.8

1.2

—

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

582

1.25

0.62

7.8

4.3

0.00

estimate

-0.00

111

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

1.69

0.62

1.0

1.1

—

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

573

1.25

0.61

7.8

4.2

0.00

estimate

-0.00

115

(40768800) Prostate Pathology biopsy report

0.00

0.60

0.0

1.2

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.60

0.0

2.4

—

10.19

—

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

504

0.79

0.60

2.6

2.7

—

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

1.53

0.59

1.9

1.4

—

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

497

1.25

0.59

2.8

2.1

89.81

96.72

pmol/l

0.62

247

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

441

1.25

0.56

8.4

4.3

0.00

0.03

estimate

0.49

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

1.65

0.56

1.0

2.4

55.33

43.02

u/l

—

(3026008) Bacteria identified in Urine by Culture

365

1.26

0.56

5.3

3.6

—

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

254

1.28

0.53

2.5

2.9

2.44

2.47

mmol/l

0.61

231

(40768804) Tissue Pathology biopsy report

404

0.79

0.53

2.2

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

172

1.33

0.52

1.2

1.3

47.99

41.49

iu/ml

—

(3002582) Erythrocytes [#/volume] in Urine

371

1.23

0.48

6.4

3.4

18.25

57.98

e6/l

1.95

283

(3002256) Pathology report gross observation

128

0.68

0.46

1.0

1.3

—

(3020682) Albumin/Creatinine [Ratio] in Urine

367

1.21

0.41

6.0

4.1

13.84

13.37

mg/mmol

0.03

229

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

0.00

0.41

0.0

1.8

—

(1002224) Polysomnography panel

1.49

0.41

1.0

1.2

—

(3042936) Bacteria identified in Isolate by Culture

161

1.28

0.40

2.0

1.7

—

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

0.64

0.37

2.2

1.7

—

(3018095) Leukocytes [#/volume] in Urine

412

1.17

0.34

7.6

4.1

10.90

114.33

e6/l

3.02

291

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.71

0.32

1.0

1.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.31

0.31

2.3

1.7

—

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

214

1.20

0.30

1.2

1.4

1.20

2.31

u/ml

—

(3023368) Bacteria identified in Blood by Culture

348

1.17

0.30

6.5

3.9

—

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

1.26

0.30

1.7

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.31

0.28

1.5

1.6

—

(3000494) Fungus identified in Specimen by Culture

123

1.25

0.26

1.4

—

(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

1.21

0.25

2.3

1.7

—

(3016502) Oxygen saturation in Arterial blood

134

1.22

0.24

5.9

6.7

96.19

94.75

0.57

129

(4035726) Immunohistochemistry procedure

1.27

0.23

1.5

1.3

—

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

259

1.15

0.22

1.6

1.4

—

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

145

1.20

0.22

2.2

1.6

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

1.20

0.21

1.0

1.1

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.4

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

0.00

0.21

0.0

1.4

—

(40759850) Jo-1 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.0

—

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(3042810) Amyloid beta 42 peptide [Mass/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.0

—

432.20

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.21

0.0

1.1

—

(43055225) Phosphorylated tau 181 [Mass/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.21

0.0

1.1

—

38.40

—

(3024522) Salmonella sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.4

—

(4281824) Cell count and differential, peritoneal fluid

0.00

0.21

0.0

1.0

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.21

0.0

1.2

—

(3000242) Tau protein [Mass/volume] in Cerebral spinal fluid

0.00

0.21

0.0

1.0

—

281.40

—

(3000855) Microscopic observation [Identifier] in Vaginal fluid by Gram stain

0.00

0.21

0.0

1.9

—

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

0.00

0.21

0.0

1.5

—

(3017569) Oxygen content in Arterial blood

0.00

0.21

0.0

1.8

—

15.94

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.7

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.8

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

1.26

0.20

2.0

1.5

0.20

1.39

ug/l

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

1.26

0.20

1.5

1.3

—

33.90

—

(46235831) Pregnancy associated plasma protein A [Multiple of the median] adjusted in Serum or Plasma

0.00

0.20

0.0

1.6

—

0.88

—

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

0.00

0.20

0.0

1.3

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.20

0.0

1.6

—

8.49

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.20

0.0

1.8

—

(3049207) Fetal Trisomy 21 risk [Likelihood] Based on maternal age

0.00

0.20

0.0

1.6

—

(3008714) Choriogonadotropin [Multiple of the median] adjusted in Serum or Plasma

0.00

0.20

0.0

1.6

—

0.88

—

(40763531) Fetal Nuchal fold [Multiple of the median] Thickness adjusted for maternal weight

0.00

0.20

0.0

1.6

—

0.95

—

(3019977) pH of Arterial blood

147

1.18

0.19

5.9

6.5

7.41

0.02

(3012516) Albumin [Mass/volume] in Urine

353

1.10

0.16

5.3

3.3

95.92

77.23

mg/l

0.17

233

(36660697) Celiac disease serology panel - Serum

0.77

0.16

1.0

1.2

—

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

150

1.15

0.15

5.9

6.2

5.05

5.08

kpa

0.05

141

(3027801) Oxygen [Partial pressure] in Arterial blood

150

1.15

0.15

5.9

6.3

12.45

11.79

kpa

0.23

143

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

473

1.09

0.15

6.1

4.4

56.16

55.64

ng/l

0.01

374

(43534045) MCM6 gene c.-13910C>T and -13915T>G [Identifier] in Blood or Tissue by Molecular genetics method Nominal

1.09

0.09

1.2

1.1

—

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

1.07

0.09

1.2

2.0

—

(40758558) Short blood count panel - Blood

322

1.07

0.09

21.3

5.9

—

(40768443) Skin Pathology biopsy report

1.14

0.09

1.3

1.2

—

(3020891) Body temperature

1.12

0.09

12.2

3.6

36.72

36.88

°c

—

(3000492) Spirometry study

1.06

0.08

1.3

1.7

—

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

108

1.12

0.07

2.1

1.5

—

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

1.08

0.07

8.6

5.4

26.32

24.37

mmol/l

—

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

737

0.95

0.07

5.8

4.3

15.26

15.04

pmol/l

0.30

649

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

236

1.07

0.07

4.4

3.9

518.95

288.72

ng/l

0.34

195

(3041096) Erythrocytes [Presence] in Urine by Automated

329

1.04

0.04

5.8

3.6

0.00

estimate

—

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

129

0.92

0.04

13.6

8.7

—

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

198

0.95

0.02

2.2

1.7

—

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

328

0.97

0.02

6.5

4.1

0.00

0.02

estimate

—

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

114

1.06

0.01

1.6

1.7

—

(3022145) Colonoscopy Study observation

101

0.99

0.00

1.2

—

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

129

1.01

0.00

1.8

1.6

—

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

123

0.97

0.00

4.8

3.0

—

(3013512) EKG study

383

0.99

0.00

7.3

4.1

—

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

112

0.98

0.00

1.5

—

(3000850) Epithelial cells [#/volume] in Urine

258

1.01

0.00

5.3

2.6

5.30

4.20

e6/l

0.15

231

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

155

1.04

0.00

1.1

1.3

33.39

11.68

u/ml

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.89

0.00

1.8

1.3

—

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

0.00

-0.00

0.0

1.1

—

(37021247) Adenovirus 40+41 DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.99

-0.00

3.0

3.8

1.19

1.22

mmol/l

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3042631) Mycobacterium sp identified in Specimen

0.00

-0.00

0.0

1.7

—

(3022689) Creatine [Moles/volume] in Urine

0.00

-0.00

0.0

1.4

—

7.76

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3009595) Pneumocystis jirovecii DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

3.0

—

155.00

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.4

—

(46235760) Methicillin resistant Staphylococcus aureus [Presence] in Pharynx by Organism specific culture

0.00

-0.00

0.0

1.8

—

(3009306) Alpha-1-Fetoprotein [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

3.98

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

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

—

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

0.00

-0.00

0.0

2.4

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

-0.00

0.0

3.1

—

0.43

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

2.5

—

(3039429) Cortisol [Moles/volume] in Saliva (oral fluid)

0.00

-0.00

0.0

2.4

—

32.71

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

(37020445) Astrovirus RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

-0.00

0.0

1.0

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(3027953) Aldolase [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

10.82

—

(40760543) Extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.2

—

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

0.92

-0.00

1.2

2.1

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.6

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

1.3

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.4

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3005082) Progesterone [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

33.30

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

-0.00

0.0

1.0

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

32.40

—

(3019060) Gas panel - Arterial blood

0.92

-0.00

5.6

3.4

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3009991) Angiotensin converting enzyme [Enzymatic activity/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.2

—

1.32

—

(3018333) Ribosomal P Ab [Presence] in Serum

0.00

-0.00

0.0

1.3

—

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

0.98

-0.00

1.6

2.8

4.16

4.54

pmol/l

—

(3024666) Lithium [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

10.6

—

0.72

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

-0.00

0.0

1.3

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

0.93

-0.00

2.4

3.3

5.10

5.14

kpa

—

(3039355) Methicillin resistant Staphylococcus aureus [Presence] in Nose by Organism specific culture

0.00

-0.00

0.0

1.8

—

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

↥

Index endpoint: D3_SIDEROANAEMIAHERED – Hereditary sideroblastic anaemia

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

Hereditary sideroblastic anaemia

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