Hereditary sideroblastic anaemia

D3_SIDEROANAEMIAHERED

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

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

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	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

D50.9

ICD-10 Finland

Iron deficiency anaemia, unspecified

16.6

26.8

UJD10

NOMESCO Finland

Esophagoscopy, gastroscopy and duodenoscopy

5.8

18.2

213

UJF92

NOMESCO Finland

Capsular endoscopy

156.3

13.7

UJF32

NOMESCO Finland

Coloscopy

4.5

12.8

197

D64.8

ICD-10 Finland

Other specified anaemias

+∞

12.7

WW500

NOMESCO Finland

Blood transfusion

17.0

12.3

D50.0

ICD-10 Finland

Iron deficiency anaemia secondary to blood loss (chronic)

13.0

11.0

XW000

NOMESCO Finland

Bone marrow biopsy

15.1

10.0

ZX120

NOMESCO Finland

Intravenous

5.7

9.5

D50.8

ICD-10 Finland

Other iron deficiency anaemias

29.9

8.6

JN3AE

NOMESCO Finland

Abdominal ultrasound examination

4.3

8.0

D46.0

ICD-10 Finland

Refractory anaemia without ring sideroblasts, so stated

+∞

7.4

UJD02

NOMESCO Finland

Gastroscopy

6.6

7.2

K44.9

ICD-10 Finland

Diaphragmatic hernia without obstruction or gangrene

4.9

7.1

C03CA01

ATC

furosemide; systemic

2.8

6.9

379

D46.9

ICD-10 Finland

Myelodysplastic syndrome, unspecified

42.4

6.8

D62

ICD-10 Finland

Acute posthaemorrhagic anaemia

73.4

6.5

TPH04

NOMESCO Finland

Cathetrisation of vein

3.2

6.4

152

V03AC03

ATC

deferasirox; oral

+∞

6.3

LabWAS

↥

(ID) Name

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

142

4.64

15.44

5.4

2.0

12.1

13.4

umol/l

0.39

127

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

120

4.58

14.00

5.9

2.0

22.9

22.3

0.07

100

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

7.86

9.00

1.5

1.9

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

9.10

8.58

1.3

1.1

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

4.66

7.26

3.2

2.7

—

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

3.74

6.77

2.7

2.4

66.7

65.2

g/l

0.43

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

101

3.22

6.35

5.7

3.9

252.7

231.8

u/l

0.20

(3045142) Bone marrow Pathology biopsy report

15.90

5.99

1.4

1.0

—

(3019150) Specific gravity of Urine by Refractometry

218

2.49

5.47

6.7

4.8

1.0

kg/l

1.33

(21494434) Karyotype in Bone marrow

14.03

5.14

1.5

1.0

—

(3044640) Blood type and Crossmatch panel - Blood

292

2.25

4.79

13.7

2.4

—

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

14.63

4.62

1.3

1.2

—

(3022621) pH of Urine by Test strip

2.99

4.49

5.0

3.6

—

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

3.13

4.43

1.9

1.5

—

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

3.59

4.17

4.6

5.6

—

(3000330) Specific gravity of Urine by Test strip

3.09

3.95

5.1

4.6

—

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

226

2.15

3.84

6.8

3.8

—

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

12.45

3.80

1.3

3.2

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

4.23

3.77

3.2

2.5

—

(3012544) pH of Venous blood

101

2.53

3.60

5.0

3.3

—

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

2.99

3.37

4.0

2.7

10.3

9.9

g/l

0.13

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

216

2.04

3.24

1.7

1198.9

1203.1

nmol/l

0.01

161

(3004588) Protein electrophoresis panel - Serum or Plasma

2.79

3.17

2.2

2.3

—

(3013115) Eosinophils [#/volume] in Blood

466

1.85

3.12

16.7

4.7

0.2

e9/l

1.19

414

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

5.23

3.10

16.5

1.9

3.8

4.1

g/l

—

(3035637) Corticotropin [Mass/volume] in Plasma

7.77

3.08

1.2

1.8

—

(21494815) CD4 cells/100 lymphocytes in Specimen

10.30

3.00

1.2

2.6

—

(42870588) Differential panel, method unspecified - Blood

289

1.88

2.92

14.5

4.0

—

(3051593) INR in Capillary blood by Coagulation assay

6.43

2.39

41.4

10.3

—

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

420

1.70

2.38

13.1

4.2

—

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

2.83

2.34

2.9

1.7

—

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

232

1.81

2.31

2.2

1.8

357.8

476.0

pmol/l

2.50

194

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

4.77

2.29

2.0

2.2

—

3.5

—

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

2.92

2.25

2.5

1.7

10.4

9.0

g/l

—

(3037522) Nuclear Ab [Titer] in Serum

2.13

2.18

1.3

251.4

385.5

titre

—

(40760892) CBC W Ordered Manual Differential panel - Blood

185

1.79

1.96

7.4

4.9

—

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

3.64

1.86

1.7

1.2

—

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

4.28

1.84

1.2

1.0

—

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

2.68

1.84

1.3

1.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

111

1.94

1.80

1.6

—

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

3.43

1.76

2.3

1.5

8145.3

5928.0

e6/l

—

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

493

1.55

1.76

8.9

6.0

1.2

mmol/l

0.60

419

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

2.21

1.72

1.2

—

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

3.25

1.68

1.5

—

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

3.25

1.68

1.5

—

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

518

1.52

1.64

7.9

5.3

10.5

11.7

umol/l

0.77

487

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

407

1.53

1.61

2.5

1.9

91.3

96.5

pmol/l

0.40

202

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

0.00

1.55

0.0

1.5

—

(40760888) Immunoglobulin light chains.free panel - Serum

3.42

1.53

2.6

5.8

—

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

0.00

1.53

0.0

1.7

—

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

487

1.49

1.50

11.7

5.5

0.0

estimate

—

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

159

1.70

1.47

1.3

2.7

2.5

g/l

0.19

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

537

1.48

1.46

21.3

7.8

4.3

4.2

e9/l

0.05

468

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

3.20

1.45

2.6

1.9

—

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

490

1.48

1.44

7.4

4.0

0.0

estimate

—

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

343

1.51

1.42

3.9

3.1

1712.8

1618.2

ng/l

0.07

294

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

2.17

1.33

5.0

5.6

—

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

116

0.41

1.32

3.2

4.8

45.2

32.2

—

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

2.30

1.26

1.3

1.4

—

(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

—

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

2.69

1.22

1.2

1.1

—

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

1.93

1.17

1.6

1.4

—

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

2.55

1.16

1.2

1.1

—

(40761511) CBC panel - Blood by Automated count

969

0.70

1.15

29.9

13.8

—

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

385

1.42

1.13

8.2

4.4

—

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

2.43

1.10

2.6

1.3

—

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

292

0.63

1.08

4.5

4.6

23.6

20.7

0.54

142

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

191

1.51

1.05

6.3

1.6

1.3

1.2

mg/l

0.10

156

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

253

1.46

1.04

4.2

2.7

51014.6

6424.8

umol/l

1.28

207

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

601

1.37

1.04

5.6

4.0

6.9

6.8

mmol/l

0.08

554

(40758558) Short blood count panel - Blood

236

1.46

1.02

20.6

5.9

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

151

1.54

0.98

9.5

1.6

30.5

29.9

0.19

146

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

160

1.52

0.97

4.4

2.6

1.2

e6/l

0.05

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

348

1.39

0.96

6.7

3.2

—

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

110

1.62

0.96

2.0

1.6

—

(3042936) Bacteria identified in Isolate by Culture

136

1.55

0.93

1.9

1.7

—

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

1.71

0.91

2.5

3.8

58.7

59.1

ml/min/173m2

—

(3026008) Bacteria identified in Urine by Culture

324

1.38

0.90

5.1

3.4

—

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

157

1.48

0.83

4.6

2.9

3.0

2.8

e6/l

0.04

(3000991) Gas panel - Venous blood

1.68

0.81

9.0

7.4

—

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

150

1.47

0.79

1.1

1.2

54.1

44.5

iu/ml

—

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

204

1.40

0.76

18.3

2.2

—

(3025941) Bacteria identified in Stool by Culture

1.71

0.76

1.2

—

(3019225) pH of Specimen

0.53

0.70

2.2

4.7

—

(3052851) Hemolysis interference index of Serum or Plasma

1.88

0.69

2.2

3.7

—

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

1.88

0.69

2.0

—

(3002582) Erythrocytes [#/volume] in Urine

309

1.32

0.69

6.2

3.3

19.5

53.6

e6/l

1.35

236

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

871

0.78

0.68

28.3

14.2

73.9

ml/min/173m2

0.01

700

(1002224) Polysomnography panel

1.81

0.67

1.0

1.2

—

(3023368) Bacteria identified in Blood by Culture

303

1.30

0.64

6.2

3.7

—

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

106

1.47

0.60

2.1

1.5

—

(40768800) Prostate Pathology biopsy report

0.00

0.60

0.0

1.2

—

(40761535) Cells panel - Urine sediment

1.51

0.60

8.3

3.2

—

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

1.75

0.58

1.2

1.9

—

(3041096) Erythrocytes [Presence] in Urine by Automated

279

1.29

0.58

5.3

3.8

—

(3009508) Creatinine [Moles/volume] in Urine

290

1.28

0.55

4.7

3.0

6.3

7.5

mmol/l

1.31

234

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

749

1.23

0.54

12.9

6.5

83.5

79.2

u/l

0.47

690

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

1.56

0.53

2.0

1.5

0.2

1.4

ug/l

—

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

476

0.80

0.52

2.5

2.7

—

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

445

1.23

0.52

9.0

5.2

1.2

mmol/l

0.25

392

(3002256) Pathology report gross observation

110

0.62

0.50

1.0

1.3

—

(3032080) INR in Blood by Coagulation assay

427

1.23

0.50

15.8

9.1

1.1

1.3

inr

—

124

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

210

1.29

0.50

2.5

2.9

2.5

mmol/l

0.07

183

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

1.58

0.50

1.1

1.2

—

(1761868) Lipid panel - Serum or Plasma

274

0.77

0.49

2.4

3.3

—

(3018095) Leukocytes [#/volume] in Urine

352

1.23

0.48

7.3

3.8

11.8

109.0

e6/l

2.84

250

(4035726)

1.45

0.44

1.4

1.2

—

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

1.42

0.44

1.6

1.5

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.41

0.0

1.1

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.41

0.0

1.2

—

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

1.49

0.41

1.0

2.3

46.8

42.5

u/l

—

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

1.48

0.36

1.2

2.0

—

(40768804) Tissue Pathology biopsy report

368

0.83

0.36

1.9

2.0

—

(3020891) Body temperature

1.45

0.36

11.5

3.6

—

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

425

1.16

0.31

5.8

4.2

59.1

52.9

ng/l

0.09

323

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.24

0.29

1.4

1.5

—

(3012516) Albumin [Mass/volume] in Urine

282

1.18

0.29

5.0

3.1

69.8

321.1

mg/l

0.55

176

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

206

1.20

0.28

4.1

3.5

516.4

165.1

ng/l

0.64

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

1.31

0.28

1.9

1.6

—

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

683

0.88

0.26

5.4

3.9

15.4

15.0

pmol/l

0.55

596

(40761536) Microorganisms panel - Urine sediment

0.66

0.26

5.0

3.6

—

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

0.65

0.26

2.2

1.7

—

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

1.27

0.26

8.6

5.7

26.3

24.3

mmol/l

—

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

227

1.18

0.26

1.5

1.4

—

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

209

1.18

0.25

5.3

2.6

5.6

4.1

e6/l

0.18

182

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

1.33

0.23

1.2

1.1

—

(3016502) Oxygen saturation in Arterial blood

107

1.24

0.22

6.5

5.9

95.4

94.8

0.17

101

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

1.25

0.22

1.7

1.6

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.2

—

(3017569) Oxygen content in Arterial blood

0.00

0.21

0.0

2.0

—

(40768797) Stomach Pathology biopsy report

117

1.22

0.21

1.9

1.2

—

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

0.00

0.21

0.0

1.7

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.8

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.8

—

(3019145) Choriogonadotropin.beta subunit free [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.8

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.2

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.7

—

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

1.26

0.20

1.5

1.3

—

33.9

—

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

0.00

0.20

0.0

1.6

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

0.00

0.20

0.0

1.9

—

(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

—

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

0.00

0.20

0.0

1.6

—

(3027801) Oxygen [Partial pressure] in Arterial blood

118

1.21

0.20

6.4

5.5

11.3

11.2

kpa

0.03

111

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

118

1.21

0.20

6.4

5.5

5.1

5.0

kpa

0.16

110

(3019832) Treponema pallidum Ab [Presence] in Serum

1.18

0.19

2.3

1.7

—

(3000494) Fungus identified in Specimen by Culture

109

1.21

0.19

1.5

1.3

—

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

109

1.21

0.19

4.4

3.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

677

1.10

0.18

6.4

4.4

—

(3044889) 12 lead EKG panel

692

0.91

0.18

5.5

3.9

—

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

276

0.89

0.17

7.6

4.1

0.0

estimate

—

(4010399)

0.76

0.16

1.0

1.3

—

(3022145) Colonoscopy Study observation

0.78

0.15

1.1

1.3

—

(40768443) Skin Pathology biopsy report

1.07

0.09

1.4

1.1

—

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

0.81

0.08

2.5

3.5

5.2

kpa

—

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

101

0.88

0.06

1.6

1.4

—

(36304419) Bacteria [Presence] in Urine

257

1.06

0.06

6.6

2.9

—

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

163

1.05

0.01

2.1

1.6

—

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

126

0.95

0.00

13.6

9.1

—

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

123

0.97

0.00

1.9

1.5

—

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

939

1.00

0.00

30.2

14.8

27.8

26.0

mg/l

0.18

756

(3013512) EKG study

288

1.01

0.00

8.1

4.3

—

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

135

1.04

0.00

1.1

1.3

41.5

12.8

u/ml

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.02

0.00

1.8

1.3

—

(3022689) Creatine [Moles/volume] in Urine

0.00

0.0

1.8

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

3.0

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3004451) EKG impression Narrative

0.00

0.0

1.5

—

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

0.00

0.0

1.1

—

(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

3.8

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.5

—

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

0.00

0.0

2.2

—

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

0.00

0.0

1.1

—

(4281824)

0.00

0.0

1.0

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.6

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

800

1.00

0.00

44.3

15.6

28.2

38.9

5.12

530

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

0.00

0.0

1.1

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3014037) CD3+CD4+ (T4 helper) cells/100 cells in Blood

0.00

0.0

3.5

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.7

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.1

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

2.8

—

8.7

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

4.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

1.3

—

(4024509)

0.00

0.0

1.1

—

(3019060) Gas panel - Arterial blood

0.96

0.00

5.6

3.5

—

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

0.00

0.0

1.2

—

12.4

—

(3047007) Chlamydophila sp Ab [Presence] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

33.3

—

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

0.00

0.0

1.1

—

(4146454)

0.00

0.0

2.4

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

(3000492) Spirometry study

0.98

0.00

1.4

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

↥

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints