Other haemoglobinopathies

D3_OTHHAEMOGLOPAT

No definition available.

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 — 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.	68
4. Check minimum number of events None	68
5. Include endpoints None	68
6. Filter based on genotype QC (FinnGen only)	68

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	68	35	33
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	55.60	51.66	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 (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
58: Matched controls
581

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D58.2

ICD-10 Finland

Other haemoglobinopathies

+∞

80.3

D45

ICD-10 Finland

Polycythaemia vera

+∞

8.5

D75.1

ICD-10 Finland

Secondary polycythaemia

91.1

7.6

LabWAS

↥

(ID) Name

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

26.25

9.78

1.1

1.2

—

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

122

4.57

8.83

2.6

1.9

4.8

2.9

mg/l

1.53

101

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

4.91

8.54

3.4

1.8

27.2

24.3

0.25

(3018010) Neutrophils/100 leukocytes in Blood

257

4.24

7.06

9.1

5.3

58.9

57.8

0.25

240

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

4.27

7.00

3.3

1.9

2.4

g/l

0.14

(3002030) Lymphocytes/100 leukocytes in Blood

262

4.11

6.75

9.3

5.4

26.3

27.1

0.19

246

(3022096) Basophils/100 leukocytes in Blood

245

3.97

6.71

9.5

5.2

0.7

0.6

0.63

227

(3019069) Monocytes/100 leukocytes in Blood

256

3.98

6.57

9.5

5.5

8.6

8.4

0.20

240

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

3.92

6.25

3.3

1.9

15.9

14.7

umol/l

0.16

(3006504) Eosinophils/100 leukocytes in Blood

254

3.75

6.16

9.6

5.3

2.5

2.7

0.26

236

(42870588) Differential panel, method unspecified - Blood

181

3.49

6.06

9.0

4.7

—

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

4.99

5.06

11.2

6.3

26.5

25.5

mmol/l

0.27

(3042936) Bacteria identified in Isolate by Culture

3.40

4.70

2.0

2.1

—

(40758558) Short blood count panel - Blood

133

3.06

4.68

12.6

7.5

—

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

289

2.83

3.92

17.5

5.7

16.2

10.6

umol/l

2.16

277

(3021589) Normoblasts [#/volume] in Blood

257

2.66

3.70

17.6

9.1

0.0

e9/l

0.49

209

(3023368) Bacteria identified in Blood by Culture

133

2.71

3.68

6.3

4.5

—

(3000991) Gas panel - Venous blood

3.59

9.2

8.2

—

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

244

2.55

3.47

7.3

6.4

1.2

mmol/l

0.79

209

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

6.31

3.45

3.0

1.5

—

(3003396) Base excess in Arterial blood by calculation

3.04

3.12

4.5

7.3

2.2

1.0

mmol/l

—

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

2.86

3.10

1.5

1.7

—

(3019060) Gas panel - Arterial blood

3.35

2.84

3.0

3.7

—

(3018418) pH of Serum or Plasma

148

2.37

2.83

6.1

3.9

7.4

—

(3012544) pH of Venous blood

3.04

2.81

6.4

3.4

—

(3000093) Morphology [Interpretation] in Blood Narrative

8.86

2.79

1.4

1.2

—

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

193

2.24

2.66

2.2

1.8

78.9

96.4

pmol/l

1.79

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

365

2.40

2.59

5.2

3.9

—

8.0

—

(36304419) Bacteria [Presence] in Urine

146

2.26

2.54

4.3

2.8

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.73

2.49

1.6

1.7

—

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

6.63

2.41

1.6

1.5

—

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

6.63

2.41

1.6

1.5

—

(3034770) Mitochondria Ab [Titer] in Serum

6.63

2.41

2.0

1.6

—

(40760888) Immunoglobulin light chains.free panel - Serum

6.63

2.41

1.2

4.8

—

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

2.68

2.41

2.4

1.6

—

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

152

2.15

2.27

4.3

2.9

0.1

0.3

e6/l

0.58

107

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

2.36

2.26

4.3

2.4

0.4

3.0

e6/l

—

(3002582) Erythrocytes [#/volume] in Urine

169

2.12

2.25

4.6

2.9

11.0

404.0

e6/l

0.51

128

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

178

2.10

2.23

3.9

3.3

2.4

mmol/l

0.17

159

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

2.33

2.13

2.6

1.7

—

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

2.50

2.12

2.5

1.6

—

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

4.00

1.98

4.0

1.5

93.0

95.6

—

(4035726)

2.66

1.97

1.6

1.3

—

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

104

2.15

1.92

1.8

1.7

—

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

3.76

1.88

1.3

1.4

—

(3037467) Urinalysis macro (dipstick) panel - Urine

371

2.00

1.80

4.4

4.0

—

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

4.06

1.74

4.4

2.5

118.2

160.5

—

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

528

2.51

1.71

26.3

11.9

86.2

84.2

ml/min/173m2

0.28

426

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

2.08

1.66

3.8

2.4

0.0

0.8

e6/l

—

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

3.76

1.64

1.2

1.5

—

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

431

2.04

1.63

15.8

6.8

73.0

77.4

u/l

0.65

404

(3018095) Leukocytes [#/volume] in Urine

195

1.85

1.62

6.2

3.5

108.1

30.3

e6/l

0.42

132

(3002385) Erythrocyte distribution width [Ratio]

481

2.14

1.50

33.7

15.7

14.9

13.6

3.91

471

(3020891) Body temperature

2.89

1.47

8.5

4.5

—

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

265

1.76

1.46

9.5

3.7

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

514

2.12

1.44

5.5

5.3

39.3

39.6

mmol/mol

0.11

476

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

2.17

1.43

6.4

3.0

—

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

2.06

1.42

7.1

5.0

1.0

mmol/l

0.13

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

538

2.30

1.42

3.8

1.3

1.2

mmol/l

0.31

480

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

125

1.85

1.38

8.6

2.1

—

(3044640) Blood type and Crossmatch panel - Blood

178

1.75

1.33

7.3

2.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.45

1.32

1.5

2.2

—

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

350

1.73

1.30

3.4

3.3

—

(3044889) 12 lead EKG panel

381

1.76

1.29

4.5

3.6

—

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

568

2.48

1.27

4.6

4.8

2.5

2.7

mmol/l

1.66

514

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

112

1.83

1.25

1.6

1.4

2.9

2.2

g/l

0.32

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

558

2.26

1.20

4.0

4.2

1.3

1.5

mmol/l

3.38

502

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.61

1.17

3.2

2.5

—

(40761536) Microorganisms panel - Urine sediment

2.13

1.16

5.9

3.7

—

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

151

1.68

1.09

11.0

3.0

1265.8

1192.2

ng/l

0.04

127

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

2.04

1.08

1.7

1.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

126

1.70

1.06

3.0

5.6

—

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

2.37

1.05

1.8

1.1

4.1

3.5

g/l

—

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

2.37

1.05

1.8

1.1

—

(3015736) pH of Urine

216

1.60

1.04

2.9

3.1

—

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

1.99

0.97

1.9

1.6

—

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

2.34

0.96

1.0

—

(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

2.25

0.94

2.3

1.4

—

(3020682) Albumin/Creatinine [Ratio] in Urine

149

1.59

0.90

3.6

4.0

7.0

8.9

mg/mmol

0.22

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

1.84

0.86

1.6

1.7

—

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

127

1.57

0.78

2.2

2.0

—

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

1.73

0.77

2.2

231.8

394.1

nmol/l

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.17

0.76

5.6

3.0

1.6

1.1

—

(3012516) Albumin [Mass/volume] in Urine

137

1.54

0.75

3.2

3.3

52.4

60.6

mg/l

0.10

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

104

1.57

0.70

1.5

1.6

—

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

122

1.52

0.69

2.2

2.6

0.5

0.7

ug/l

1.43

(3032080) INR in Blood by Coagulation assay

224

1.43

0.66

16.3

6.0

1.3

1.2

inr

—

(3022145) Colonoscopy Study observation

1.69

0.66

1.4

1.3

—

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

1.78

0.65

5.6

2.9

149.2

126.7

g/l

—

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

133

1.48

0.63

2.8

3.2

—

(40761511) CBC panel - Blood by Automated count

594

1.82

0.61

24.7

11.7

—

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

180

1.42

0.61

2.5

2.2

49.3

55.7

u/l

0.55

166

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

276

1.38

0.59

3.7

3.4

0.0

estimate

—

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

154

1.42

0.57

3.8

3.3

0.0

estimate

—

(1761868) Lipid panel - Serum or Plasma

220

0.70

0.57

2.3

2.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

504

1.48

0.55

34.3

13.9

42.1

40.7

0.55

365

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

279

1.36

0.54

5.1

4.8

0.0

estimate

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

1.59

0.54

1.5

2.6

—

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

1.55

0.53

1.2

1.8

—

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

283

1.32

0.48

3.8

3.5

0.0

estimate

—

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

0.00

0.42

0.0

3.3

—

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

0.00

0.42

0.0

1.2

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(4094501)

0.00

0.40

0.0

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.39

0.0

1.6

—

(3026008) Bacteria identified in Urine by Culture

155

1.31

0.38

4.8

2.5

—

(40768797) Stomach Pathology biopsy report

1.43

0.37

1.6

1.3

—

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

1.47

0.37

1.2

1.5

—

(4010399)

1.40

0.35

1.3

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.39

0.32

1.4

—

(40768804) Tissue Pathology biopsy report

216

1.25

0.32

2.2

1.9

—

(3002256) Pathology report gross observation

1.26

0.28

1.9

1.2

—

(3000492) Spirometry study

1.38

0.24

1.4

—

(3017732) Neutrophils [#/volume] in Blood

1.34

0.24

1.4

2.9

3.8

e9/l

—

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

1.27

0.23

1.0

—

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

213

1.20

0.23

3.8

3.4

—

(3025159) Blasts/100 leukocytes in Blood

1.24

0.22

3.8

4.4

—

0.0

—

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

0.00

0.21

0.0

3.1

—

1.4

—

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

0.00

0.21

0.0

3.1

—

7.4

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.1

—

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

0.00

0.20

0.0

1.1

—

(3019225) pH of Specimen

1.22

0.20

2.5

4.4

—

(3000494) Fungus identified in Specimen by Culture

1.22

0.17

1.0

1.4

—

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

208

1.16

0.17

5.9

3.4

21.1

43.4

ng/l

1.18

148

(3003338) MCHC [Mass/volume]

474

1.12

0.10

42.1

17.3

328.6

332.8

g/l

1.49

474

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

166

1.11

0.09

2.8

1.6

—

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

0.79

0.08

2.0

2.3

—

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

0.86

0.07

1.0

1.3

—

(3019832) Treponema pallidum Ab [Presence] in Serum

0.86

0.07

1.7

1.8

—

(3013512) EKG study

162

1.07

0.02

3.4

3.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

153

1.06

0.01

4.5

3.2

—

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

0.00

0.0

3.8

—

104.8

—

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

0.00

0.0

1.2

—

(3020491) Glucose [Moles/volume] in Blood

0.00

0.0

2.6

—

6.1

—

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

0.00

0.0

2.3

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.1

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

13.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.1

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

3.8

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.7

—

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

0.00

0.0

1.4

—

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

0.00

0.0

2.1

—

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

0.89

0.00

1.5

2.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.3

—

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

0.00

0.0

2.0

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.0

2.7

—

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

0.00

0.0

2.1

—

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

0.00

0.0

2.1

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

0.0

1.5

—

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

0.00

0.0

3.8

—

3.9

—

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

0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.4

—

1.7

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

8.0

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

-0.00

0.0

4.6

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.6

—

199.1

—

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

0.00

-0.00

0.0

1.6

—

50.6

—

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

0.00

-0.00

0.0

1.0

—

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints