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	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 — 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.	71
4. Check minimum number of events None	71
5. Include endpoints None	71
6. Filter based on genotype QC (FinnGen only)	60

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	60	27	33
Unadjusted period prevalence (%)	0.01	0.01	0.02
Median age at first event (years)	57.28	54.21	59.79

-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
71: Matched controls
710

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D58.2

ICD-10 Finland

Other haemoglobinopathies

+∞

99.2

D75.1

ICD-10 Finland

Secondary polycythaemia

+∞

10.7

XW000

NOMESCO Finland

Bone marrow biopsy

44.4

6.9

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

24.40

10.28

1.1

—

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

125

4.81

9.86

2.7

1.9

4.58

2.94

mg/l

1.38

103

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

4.61

8.23

3.4

1.9

2.38

2.42

g/l

0.12

(3018010) Neutrophils/100 leukocytes in Blood

271

4.43

7.66

9.1

5.5

58.77

57.94

0.20

254

(40760892) CBC W Ordered Manual Differential panel - Blood

271

4.43

7.66

8.0

6.1

—

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

4.25

7.40

3.3

1.9

15.89

14.80

umol/l

0.15

(3002030) Lymphocytes/100 leukocytes in Blood

276

4.30

7.34

9.2

5.6

26.18

27.12

0.26

259

(3019069) Monocytes/100 leukocytes in Blood

270

4.16

7.16

9.5

5.7

8.42

8.26

0.13

253

(3022096) Basophils/100 leukocytes in Blood

258

3.90

6.81

9.6

5.5

0.74

0.65

0.66

239

(3006504) Eosinophils/100 leukocytes in Blood

268

3.93

6.74

9.5

5.5

2.52

2.68

0.26

250

(3042936) Bacteria identified in Isolate by Culture

3.67

5.64

1.9

2.1

—

(40758558) Short blood count panel - Blood

142

2.93

4.51

12.7

7.4

—

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

254

2.76

4.15

6.9

6.3

1.20

1.22

mmol/l

0.47

219

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

7.18

4.13

2.8

1.4

—

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

302

2.82

4.06

17.2

5.7

15.89

10.51

umol/l

2.19

290

(3021589) Normoblasts [#/volume] in Blood

272

2.62

3.75

17.4

9.3

0.00

e9/l

0.49

222

(3023368) Bacteria identified in Blood by Culture

140

2.65

3.67

6.2

4.5

—

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

4.16

3.49

11.2

6.3

26.49

25.44

mmol/l

0.32

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

2.83

3.21

1.4

1.7

—

(3018418) pH of Serum or Plasma

156

2.45

3.20

5.7

3.9

7.41

7.40

—

(3000991) Gas panel - Venous blood

3.24

3.11

9.2

8.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

10.61

3.02

1.4

1.2

—

(3034770) Mitochondria Ab [Titer] in Serum

7.15

2.93

1.8

1.6

—

(3003396) Base excess in Arterial blood by calculation

2.85

2.84

4.5

7.3

2.24

1.01

mmol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.85

2.84

1.5

1.7

—

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

379

2.39

2.69

5.2

3.9

—

8.00

—

(3019060) Gas panel - Arterial blood

3.33

2.63

3.0

3.7

—

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

2.49

2.63

4.2

2.4

1.13

3.01

e6/l

—

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

202

2.18

2.60

2.4

1.7

77.16

95.89

pmol/l

2.02

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

3.23

2.55

2.2

2.4

9.69

9.42

g/l

0.07

(3015377) Calcium [Moles/volume] in Serum or Plasma

187

2.17

2.52

3.7

3.2

2.37

2.35

mmol/l

0.30

170

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

108

2.34

2.48

1.9

1.7

—

(36304419) Bacteria [Presence] in Urine

155

2.20

2.47

4.3

2.7

—

(3002385) Erythrocyte distribution width [Ratio]

523

2.81

2.41

31.7

15.4

16.37

14.85

0.90

515

(40760888) Immunoglobulin light chains.free panel - Serum

6.62

2.41

1.2

4.8

—

(3012544) pH of Venous blood

2.72

2.36

6.4

3.2

—

(3002582) Erythrocytes [#/volume] in Urine

175

2.11

2.32

4.5

2.9

11.90

392.01

e6/l

0.51

132

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

555

3.02

2.26

25.3

11.9

87.04

84.47

ml/min/173m2

0.39

444

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

160

2.11

2.25

4.3

2.8

0.14

0.35

e6/l

0.84

114

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

2.57

2.25

2.4

1.5

—

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

3.99

1.98

4.0

1.5

93.00

95.81

—

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

2.40

1.98

2.5

1.6

—

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

4.80

1.97

1.6

1.4

—

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

4.80

1.97

1.6

1.4

—

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

2.23

1.95

2.6

1.7

—

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

448

2.18

1.93

15.2

6.8

72.48

77.35

u/l

0.81

420

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

2.36

1.91

7.6

7.4

103.14

103.43

mmol/l

0.13

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

3.75

1.88

1.3

1.4

—

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

2.15

1.88

3.7

2.4

0.00

0.80

e6/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

386

2.00

1.87

4.5

3.9

—

(4035726) Immunohistochemistry procedure

2.53

1.81

1.6

1.4

—

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

117

1.99

1.68

1.6

1.4

2.93

2.26

g/l

0.30

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

3.76

1.64

4.4

2.4

118.20

168.93

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

539

2.18

1.57

5.5

5.2

39.54

39.44

mmol/mol

0.03

501

(3018095) Leukocytes [#/volume] in Urine

205

1.80

1.56

6.2

3.4

102.72

31.24

e6/l

0.40

138

(3004588) Protein electrophoresis panel - Serum or Plasma

2.64

1.54

1.4

2.2

—

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

368

1.82

1.54

3.3

—

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

3.28

1.46

1.2

1.4

—

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

2.23

1.41

1.9

1.8

—

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

134

1.81

1.34

8.2

2.2

—

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

278

1.69

1.34

7.0

2.3

—

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

2.63

1.33

1.7

1.1

—

(3020891) Body temperature

2.53

1.27

8.5

4.4

—

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

2.05

1.27

6.4

3.3

—

(3044889) 12 lead EKG panel

401

1.72

1.25

4.4

3.6

—

(3044640) Blood type and Crossmatch panel - Blood

189

1.69

1.25

7.0

2.1

—

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

2.75

1.23

1.8

1.0

0.00

g/l

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

2.75

1.23

1.8

1.0

0.00

g/l

—

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

563

2.05

1.21

3.8

1.36

1.24

mmol/l

0.62

504

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

1.91

1.19

7.1

5.0

1.04

1.00

mmol/l

0.17

(3015736) pH of Urine

228

1.64

1.18

2.9

3.1

—

5.71

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

2.61

1.17

1.8

1.0

0.00

g/l

—

(3022217) INR in Platelet poor plasma by Coagulation assay

266

1.62

1.17

18.8

12.6

1.22

1.23

inr

0.04

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.48

1.11

3.2

2.5

—

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

594

2.11

1.06

4.6

4.8

2.51

2.73

mmol/l

1.14

540

(3020682) Albumin/Creatinine [Ratio] in Urine

154

1.62

0.99

3.2

3.8

6.59

8.66

mg/mmol

0.25

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

111

1.70

0.99

1.6

—

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

1.99

0.97

1.9

1.5

—

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

155

1.61

0.97

11.0

3.0

1265.75

1172.24

ng/l

0.06

130

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

138

1.63

0.95

2.9

3.1

—

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

2.25

0.94

1.0

—

(40761536) Microorganisms panel - Urine sediment

2.02

0.92

5.9

3.7

—

(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

2.09

0.89

2.3

1.4

—

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

585

1.95

0.88

4.0

4.2

1.31

1.49

mmol/l

3.45

529

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

1.67

0.87

1.2

1.58

12.48

u/ml

—

(3012516) Albumin [Mass/volume] in Urine

142

1.57

0.85

3.1

3.2

49.20

58.17

mg/l

0.12

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

1.79

0.84

1.6

1.8

—

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

134

1.57

0.82

2.3

2.0

—

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

1.81

0.80

3.9

2.1

226.60

385.70

nmol/l

—

(40761511) CBC panel - Blood by Automated count

620

1.91

0.73

24.1

11.7

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.99

0.72

5.2

2.9

0.48

0.72

—

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

289

1.42

0.69

3.7

3.4

0.00

estimate

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

1.70

0.69

1.4

1.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.84

0.67

5.6

2.8

1.58

1.45

—

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

186

1.44

0.67

2.8

2.3

50.67

56.31

u/l

0.48

172

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

291

1.40

0.66

5.1

4.7

0.00

estimate

—

(3022145) Colonoscopy Study observation

1.68

0.66

1.4

1.3

—

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

161

1.43

0.61

3.8

3.3

0.00

estimate

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.61

0.0

1.5

—

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

294

1.38

0.61

3.7

3.4

0.00

estimate

—

(1761868) Lipid panel - Serum or Plasma

233

0.70

0.60

2.5

2.6

—

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

127

1.45

0.56

2.2

2.6

0.49

0.71

ug/l

1.46

(40768797) Stomach Pathology biopsy report

1.55

0.54

1.5

1.3

—

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

1.55

0.53

1.0

—

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

1.62

0.51

1.3

1.7

—

(40768804) Tissue Pathology biopsy report

227

1.31

0.44

2.1

1.9

—

(3026008) Bacteria identified in Urine by Culture

161

1.34

0.43

4.6

2.5

—

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

1.60

0.43

5.6

2.8

149.20

126.47

g/l

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

3.3

—

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

0.00

0.41

0.0

1.2

—

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

1.2

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.40

0.0

1.0

—

(4200892) Spirometry reversibility

1.36

0.35

1.3

—

(3002256) Pathology report gross observation

1.24

0.28

1.9

1.2

—

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

220

1.21

0.26

3.8

3.4

—

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

1.38

0.24

1.2

1.3

—

(3017732) Neutrophils [#/volume] in Blood

1.34

0.24

1.4

3.0

2.89

4.76

e9/l

—

(3000492) Spirometry study

1.27

0.23

1.4

—

(3025159) Blasts/100 leukocytes in Blood

1.24

0.22

3.8

4.4

—

0.00

—

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

0.00

0.21

0.0

3.1

—

7.41

—

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

0.00

0.21

0.0

3.1

—

1.41

—

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

0.00

0.21

0.0

1.2

—

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

0.00

0.21

0.0

2.1

—

(3019225) pH of Specimen

1.22

0.20

2.5

4.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.21

0.18

1.4

—

(3000494) Fungus identified in Specimen by Culture

1.16

0.17

1.0

1.4

—

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

218

1.15

0.16

5.8

3.4

20.12

41.42

ng/l

1.17

154

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

172

1.14

0.13

3.1

1.5

—

(3013512) EKG study

167

1.10

0.07

3.3

3.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

159

1.01

0.00

4.5

3.2

—

(3019897) Erythrocyte distribution width [Ratio] by Automated count

0.00

-0.00

0.0

1.6

—

13.71

—

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

0.89

-0.00

2.0

2.2

—

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

0.00

-0.00

0.0

2.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.8

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

245.60

—

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

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

—

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

0.00

-0.00

0.0

2.0

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

1.70

—

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

0.00

-0.00

0.0

3.8

—

104.83

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

-0.00

0.0

2.7

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.0

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.7

—

7.58

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.3

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

3.6

—

199.14

—

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

0.00

-0.00

0.0

1.6

—

50.60

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

7.2

—

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

0.93

-0.00

1.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.0

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

-0.00

0.0

4.6

—

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

0.00

-0.00

0.0

2.5

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.3

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

3.8

—

3.90

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.92

-0.00

1.9

1.7

—

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

0.98

-0.00

1.6

2.0

—

(3045716) Anion gap in Serum or Plasma

0.00

-0.00

0.0

2.4

—

9.40

—

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

0.00

-0.00

0.0

1.0

—

(3020491) Glucose [Moles/volume] in Blood

0.00

-0.00

0.0

2.6

—

6.13

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

(3045424) Erythrocytes [Presence] in Urine

0.00

-0.00

0.0

1.6

—

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: 1

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