Other haemoglobinopathies

D3_OTHHAEMOGLOPAT

No definition available.

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 — D58.2 Hospital discharge: ICD-8 — 28250 Cause of death: ICD-10 — D58.2 Cause of death: ICD-8 — 28250 2 out of 7 registries used, show all original rules.	83
4. Check minimum number of events None	83
5. Include endpoints None	83
6. Filter based on genotype QC (FinnGen only)	66

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D58
Name in latin: Aliae haemoglobinopathiae

NAME	D3_OTHHAEMOGLOPAT
CONTROL_EXCLUDE	D3_HAEMOLYTICANAEMIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D582
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	28250
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D582
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	28250
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 haemoglobinopathies 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	673	321	297
Only index persons	544	283	261
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.01
Median age at first event (years)
Whole population	42.81	40.44	46.93
Only index persons	45.77	43.01	48.75

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	66	29	37
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	58.53	54.75	61.50

-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
77: Matched controls
770

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D58.2

ICD-10 Finland

Other haemoglobinopathies

+∞

107.9

D75.1

ICD-10 Finland

Secondary polycythaemia

+∞

10.7

XW000

NOMESCO Finland

Bone marrow biopsy

44.1

6.9

D45

ICD-10 Finland

Polycythaemia vera

25.1

6.8

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

21.97

11.30

1.1

—

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

163

4.47

9.75

2.9

2.1

3.93

2.70

mg/l

1.12

138

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

101

4.23

8.22

3.5

2.1

26.91

24.25

0.27

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

113

4.13

8.21

3.0

2.2

16.14

13.69

umol/l

0.49

104

(3004789) Transferrin [Mass/volume] in Serum or Plasma

110

4.04

7.85

3.1

2.2

2.35

2.30

g/l

0.18

101

(3018010) Neutrophils/Leukocytes in Blood

320

4.29

7.58

10.0

6.9

58.78

58.42

0.08

308

(3002030) Lymphocytes/Leukocytes in Blood

328

4.11

7.12

9.9

6.8

25.88

26.87

0.29

312

(3019069) Monocytes/Leukocytes in Blood

324

3.92

6.82

10.1

6.8

8.89

8.63

0.26

304

(42870588) Differential panel, method unspecified - Blood

224

3.43

6.58

9.7

6.5

—

(3022096) Basophils/Leukocytes in Blood

322

3.71

6.43

10.2

6.8

0.72

0.66

0.43

301

(3006504) Eosinophils/Leukocytes in Blood

325

3.65

6.27

10.2

6.7

2.61

2.75

0.16

306

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

4.42

5.39

5.0

3.2

23.10

24.82

mmol/l

0.67

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

319

2.77

4.32

8.1

7.5

1.21

mmol/l

0.04

281

(40758558) Short blood count panel - Blood

213

2.55

3.92

11.8

7.0

—

(3016293) Bicarbonate [Moles/volume] in Serum or Plasma

3.58

3.87

11.5

11.4

26.06

25.22

mmol/l

0.29

(3042936) Bacteria identified in Isolate by Culture

108

2.78

3.82

2.0

2.1

—

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

5.84

3.63

3.0

1.4

—

(3018418) pH of Serum or Plasma

203

2.45

3.59

5.4

3.9

7.39

7.40

0.33

143

(3019977) pH of Arterial blood

2.91

3.55

4.9

10.3

7.42

7.41

—

(3000991) Gas panel - Venous blood

3.10

3.49

9.4

11.7

—

(3003396) Base excess in Arterial blood by calculation

2.87

3.47

4.7

10.2

1.47

0.79

mmol/l

0.23

(3000093) Morphology [Interpretation] in Blood Narrative

9.16

3.32

1.3

1.1

—

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

2.66

3.27

7.0

9.7

103.86

103.60

mmol/l

0.15

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

3.12

2.99

2.5

2.7

9.11

10.06

g/l

0.32

(3012544) pH of Venous blood

2.75

2.98

5.8

3.7

7.32

7.39

—

(3021589) Normoblasts [#/volume] in Blood

328

2.23

2.87

19.0

11.8

0.00

e9/l

0.39

268

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

2.52

2.86

1.6

1.8

—

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

265

2.17

2.80

2.3

2.0

82.82

94.02

pmol/l

0.88

137

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

3.93

2.67

3.3

1.9

92.00

94.88

—

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

448

2.36

2.61

5.2

4.1

—

9.44

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

7.53

2.58

1.4

1.0

27.40

32.29

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

3.93

2.44

3.5

2.5

143.00

202.18

—

(3023368) Bacteria identified in Blood by Culture

182

2.06

2.32

6.8

4.7

—

(3034770) Mitochondria Ab [Titer] in Serum

4.17

2.31

1.7

1.3

—

(3002385) Erythrocyte [DistWidth] in Red Blood Cells

570

2.65

2.29

37.2

19.1

14.70

13.58

4.16

565

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

127

2.16

2.26

1.3

12.04

32.50

iu/ml

—

(3019060) Gas panel - Arterial blood

2.88

2.25

3.0

4.6

—

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

143

2.11

2.25

1.5

2.40

2.43

g/l

0.02

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

129

2.12

2.16

2.0

1.7

—

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

510

2.29

2.11

17.9

8.6

71.13

80.64

u/l

1.97

483

(3037467) Urinalysis macro (dipstick) panel - Urine

455

2.11

2.10

4.5

4.3

—

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

5.26

2.10

1.0

1.2

—

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

5.26

2.10

1.0

1.2

—

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

2.45

2.09

1.7

—

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

108

2.15

2.06

4.8

2.7

1.00

3.87

e6/l

—

(3037522) Nuclear Ab [Titer] in Serum

2.22

1.99

1.7

1.4

240.00

460.00

titre

—

(3024928) Oxygen saturation in Venous blood

3.97

1.97

2.2

3.8

67.48

62.24

—

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

4.78

1.97

1.0

1.62

1.50

g/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.28

1.90

1.8

1.6

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

4.37

1.85

2.2

1.3

—

(4268621) Lupus anticoagulant assay

4.37

1.85

2.6

1.7

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.69

1.81

4.1

2.8

0.51

0.67

—

(36304419) Bacteria [Presence] in Urine

188

1.87

1.79

4.6

2.9

—

estimate

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

3.52

1.78

2.0

1.4

—

(3010421) pH of Blood

3.52

1.78

14.0

2.4

7.42

7.43

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

4.03

1.74

1.8

1.3

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

4.03

1.74

1.8

1.3

—

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

2.58

1.69

4.3

4.1

4.50

4.40

pmol/l

—

(3030467) Casts [#/volume] in Urine by Automated count

194

1.79

1.59

4.6

3.1

0.29

0.35

e6/l

0.13

132

(3024891) Influenza virus A+B Ag [Presence] in Specimen

3.49

1.55

1.0

1.3

—

(3002582) Erythrocytes [#/volume] in Urine

232

1.74

1.52

4.8

3.1

11.84

303.77

e6/l

0.51

172

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

113

1.90

1.49

2.9

1.7

—

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

2.87

1.46

1.3

—

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

3.27

1.46

1.8

1.4

—

(4035726) Immunohistochemistry procedure

2.15

1.42

1.8

1.4

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

2.74

1.39

1.7

1.0

0.00

g/l

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.62

1.33

3.2

2.5

—

(3032080) INR in Blood by Coagulation assay

325

1.64

1.30

16.4

13.2

1.21

1.20

inr

0.03

277

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

2.90

1.30

1.0

2.2

26.36

24.46

mmol/l

—

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

415

1.68

1.30

3.4

3.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.20

1.28

1.3

2.1

—

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

119

1.79

1.27

1.2

1.3

1.49

10.66

u/ml

1.46

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

119

1.79

1.27

4.6

2.6

0.00

0.85

e6/l

—

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

1.90

1.26

2.9

1.6

—

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

327

1.63

1.26

9.2

2.5

—

estimate

—

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

2.08

1.24

1.5

1.9

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.23

1.22

4.8

2.7

1.73

1.43

—

(3044640) Blood type and Crossmatch panel - Blood

225

1.63

1.22

9.7

2.2

—

(3003458) Phosphate [Moles/volume] in Serum or Plasma

104

1.81

1.22

6.3

5.5

1.04

1.01

mmol/l

0.21

(40768797) Stomach Pathology biopsy report

1.88

1.22

1.5

1.3

—

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

2.60

1.17

1.2

2.0

—

(3015736) pH of Urine

293

1.59

1.16

2.9

3.2

6.26

6.19

0.15

158

(40760892) CBC W Ordered Manual Differential panel - Blood

165

1.66

1.16

3.0

5.5

—

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

1.88

1.11

6.0

3.3

—

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

2.47

1.11

1.2

1.4

—

(3018095) Leukocytes [#/volume] in Urine

260

1.55

1.05

6.5

3.8

90.12

31.75

e6/l

0.37

174

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

126

1.67

1.04

1.6

—

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

1.79

1.03

3.1

1.7

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

1.80

0.99

6.4

2.3

230.46

389.27

nmol/l

2.17

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

163

1.59

0.97

12.1

2.4

—

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

633

1.87

0.95

4.2

1.37

1.24

mmol/l

0.92

576

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

158

1.55

0.87

2.3

2.0

—

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

1.82

0.85

1.0

—

(40761536) Microorganisms panel - Urine sediment

1.74

0.81

6.1

3.7

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.80

0.0

1.3

—

0.70

—

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

0.00

0.80

0.0

1.2

—

(3016771) Amylase [Enzymatic activity/volume] in Serum or Plasma

225

1.46

0.80

4.0

2.4

53.24

73.69

u/l

0.53

211

(3026008) Bacteria identified in Urine by Culture

190

1.47

0.76

4.1

2.6

—

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

172

1.48

0.76

3.1

3.5

—

(3020682) Albumin/Creatinine [Ratio] in Urine

212

1.42

0.69

3.6

4.1

5.32

8.64

mg/mmol

0.54

129

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.65

0.67

1.7

1.3

—

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.59

0.0

1.1

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.59

0.0

1.0

—

(3019150) Specific gravity of Urine by Refractometry

162

1.41

0.58

2.3

3.6

1.02

kg/l

0.31

104

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

373

1.35

0.58

3.9

3.6

0.00

estimate

-0.00

(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

1.67

0.57

3.3

1.5

—

(3000492) Spirometry study

1.54

0.56

1.3

1.4

—

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

1.58

0.54

1.0

1.1

—

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

376

1.33

0.53

3.9

3.7

0.00

estimate

-0.00

(1761868) Lipid panel - Serum or Plasma

282

0.74

0.53

2.8

3.1

—

(3012516) Albumin [Mass/volume] in Urine

203

1.34

0.51

3.3

3.5

27.70

54.88

mg/l

0.78

133

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

270

1.32

0.50

5.1

3.4

17.80

38.13

ng/l

1.53

195

(3013512) EKG study

233

1.32

0.48

3.3

3.4

—

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

1.50

0.48

1.9

1.5

—

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

381

1.29

0.46

3.9

3.7

0.00

estimate

—

(3006093) Chlamydia trachomatis DNA [Presence] in Specimen by NAA with probe detection

1.51

0.45

1.4

2.0

—

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

1.65

0.44

2.2

1.3

—

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

667

1.54

0.43

4.7

4.9

1.32

1.47

mmol/l

2.95

610

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

0.00

0.41

0.0

3.3

—

(3022145) Colonoscopy Study observation

1.42

0.39

1.6

1.4

—

(40761511) CBC panel - Blood by Automated count

691

1.65

0.37

24.8

13.0

—

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

155

1.30

0.37

2.4

2.8

0.48

0.73

ug/l

1.92

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

204

1.26

0.34

2.8

1.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.38

0.32

1.5

—

(40768804) Tissue Pathology biopsy report

265

1.22

0.30

2.4

2.0

—

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

212

1.19

0.23

3.9

3.5

0.00

estimate

—

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

1.27

0.23

1.2

1.4

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.21

0.0

1.2

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.21

0.0

1.1

—

(3021788) Differential panel - Synovial fluid

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

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

283

1.16

0.20

3.6

3.4

0.00

estimate

—

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

205

1.17

0.20

4.2

4.4

22.86

22.42

—

(3002256) Pathology report gross observation

1.24

0.19

1.7

1.2

—

(3025159) Blasts/Leukocytes in Blood

1.20

0.18

4.6

4.9

—

0.00

—

(40761535) Cells panel - Urine sediment

1.09

0.10

2.2

3.4

—

(36660697) Celiac disease serology panel - Serum

0.79

0.08

1.0

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

206

1.10

0.08

4.0

3.1

0.00

estimate

-0.00

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

0.89

0.07

2.0

2.3

—

(3017732) Neutrophils [#/volume] in Blood

1.11

0.04

3.5

3.2

3.92

5.03

e9/l

—

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

0.99

0.00

1.6

2.1

—

(3012413) Glucose [Moles/volume] in Serum or Plasma --2 hours post meal

0.00

0.0

1.7

—

7.58

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

(37208534) Antinuclear antibody arbitrary concentration in serum

0.00

0.0

1.0

—

(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.0

—

(3019420) Tryptase [Mass/volume] in Serum or Plasma

0.00

0.0

1.3

—

7.78

—

(3022575) Varicella zoster virus IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

1843.83

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.5

—

0.67

—

(3000494) Fungus identified in Specimen by Culture

1.01

-0.00

1.0

1.4

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

-0.00

0.0

1.4

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.1

—

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

0.97

-0.00

1.3

—

(3011371) Neisseria gonorrhoeae DNA [Presence] in Specimen by NAA with probe detection

1.02

-0.00

1.4

2.0

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

2.6

—

(3033386) Bacteria [Presence] in Cerebral spinal fluid by Light microscopy

0.00

-0.00

0.0

1.4

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.1

—

105.00

—

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

0.00

-0.00

0.0

3.1

—

1.19

—

(3020491) Glucose [Moles/volume] in Blood

0.00

-0.00

0.0

2.6

—

6.13

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

3.8

—

198.94

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.2

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

0.00

-0.00

0.0

3.6

—

76.80

—

(3002619) Bacteria identified in Specimen by Culture

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.1

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.1

—

(3037534) Parathyrin related protein [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

2.2

—

91.00

—

(3032700) Glomerular basement membrane Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

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

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

1.7

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.4

—

1.70

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.95

-0.00

2.0

1.9

—

(4146454) Self-monitoring of blood glucose

0.00

-0.00

0.0

5.0

—

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

0.00

-0.00

0.0

1.2

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.1

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

50.60

—

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

0.00

-0.00

0.0

2.1

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.4

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

-0.00

0.0

7.1

—

442.29

—

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

0.00

-0.00

0.0

9.2

—

0.58

—

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

0.00

-0.00

0.0

2.1

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

-0.00

0.0

1.2

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

-0.00

0.0

3.1

—

3.95

—

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

0.95

-0.00

1.1

1.3

—

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

0.00

-0.00

0.0

2.0

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

2.0

—

(3028369) Herpes simplex virus 1+2 DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.3

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_OTHHAEMOGLOPAT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_OTHHAEMOGLOPAT.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

↥

Index endpoint: D3_OTHHAEMOGLOPAT – Other haemoglobinopathies

GWS hits: 2

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 haemoglobinopathies

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