Other and unspecified thalassaemias

D3_THALASSAEMIANAS

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 — D56.8, D56.90, D56.91, D56.92, D56.99 Hospital discharge: ICD-9 — 2824X Hospital discharge: ICD-8 — 28240 Cause of death: ICD-10 — D56.8, D56.90, D56.91, D56.92, D56.99 Cause of death: ICD-9 — 2824X Cause of death: ICD-8 — 28240 2 out of 7 registries used, show all original rules.	56
4. Check minimum number of events None	56
5. Include endpoints None	56
6. Filter based on genotype QC (FinnGen only)	56

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF6

NAME	D3_THALASSAEMIANAS
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	D56[8-9]
HD_ICD_9	2824X
HD_ICD_8	28240
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D56[8-9]
COD_ICD_9	2824X
COD_ICD_8	28240
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 and unspecified thalassaemias 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	1025	470	452
Only index persons	777	411	366
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	22.42	26.14	16.11
Only index persons	25.52	28.63	22.03

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	56	35	21
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	35.53	32.21	41.07

-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

Not a core endpoint, no data to show.

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
54: Matched controls
538

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D56.99

ICD-10 Finland

Thalassaemia, unspecified

+∞

27.4

D56.91

ICD-10 Finland

Thalassemia minor

+∞

26.2

D56.1

ICD-10 Finland

Beta thalassaemia

+∞

14.2

D56.3

ICD-10 Finland

Thalassaemia trait

+∞

9.7

D56.0

ICD-10 Finland

Alpha thalassaemia

+∞

8.5

D56.8

ICD-10 Finland

Other thalassaemias

+∞

7.5

O99.0

ICD-10 Finland

Anaemia complicating pregnancy, childbirth and the puerperium

30.7

6.4

Z31.5

ICD-10 Finland

Genetic counselling

8.6

6.2

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3032868) Hemoglobin electrophoresis panel in Blood

+∞

18.78

2.1

0.0

—

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

5.46

9.18

2.8

2.1

4.6

2.7

mg/l

1.91

(3018738) Hemoglobin F/Hemoglobin.total in Blood

+∞

8.54

6.0

0.0

5.5

—

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

8.21

7.95

5.7

10.9

151.3

164.3

0.28

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

7.39

7.77

5.2

9.6

92.9

90.2

0.19

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

128

3.89

5.93

2.0

1.9

102.5

91.0

pmol/l

0.60

(3000093) Morphology [Interpretation] in Blood Narrative

18.29

5.59

1.8

1.2

—

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

4.08

4.98

2.2

1.5

1027.8

904.2

nmol/l

0.19

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

9.48

4.76

1.2

1.0

—

(3016650) Hepatitis A virus Ab [Presence] in Serum

9.48

4.76

1.2

1.0

—

(42870588) Differential panel, method unspecified - Blood

161

3.07

4.10

23.3

8.7

—

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

3.17

3.71

1.8

1.6

—

(3006315) Basophils [#/volume] in Blood

233

2.96

3.55

19.1

8.0

0.0

e9/l

0.12

201

(3001604) Monocytes [#/volume] in Blood

234

2.94

3.51

19.1

7.9

0.5

0.6

e9/l

0.39

201

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

5.64

3.18

1.8

1.7

—

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

2.87

3.15

4.2

3.5

0.9

1.2

mg/l

0.23

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

273

2.87

3.09

23.0

10.5

3.7

4.3

e9/l

0.90

239

(3021589) Normoblasts [#/volume] in Blood

210

2.58

2.93

24.7

9.0

0.2

0.0

e9/l

0.51

163

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

104

2.63

2.84

10.9

2.5

—

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

128

2.53

2.78

4.5

4.2

0.5

0.4

e6/l

0.13

(40758558) Short blood count panel - Blood

136

2.51

2.78

23.2

9.0

—

(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

4.48

2.68

1.6

2.1

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

7.69

2.60

1.4

1.0

—

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

124

2.45

2.57

3.3

3.2

2.3

2.4

mmol/l

0.73

103

(3044640) Blood type and Crossmatch panel - Blood

134

2.38

2.47

10.3

2.4

—

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

5.45

2.47

3.8

3.4

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

151

2.35

2.45

8.7

7.6

35.3

36.0

g/l

0.21

146

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

111

2.43

2.0

1.7

2.5

2.2

g/l

—

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

152

2.33

2.40

4.5

4.0

—

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

5.97

2.26

1.6

8.0

118.8

89.9

—

(3019060) Gas panel - Arterial blood

4.05

2.23

3.7

4.9

—

(3018095) Leukocytes [#/volume] in Urine

166

2.21

2.17

5.1

4.8

31.7

39.1

e6/l

0.09

111

(36304419) Bacteria [Presence] in Urine

134

2.22

2.09

4.4

3.9

—

(3002582) Erythrocytes [#/volume] in Urine

143

2.19

2.06

4.5

4.0

15.0

18.6

e6/l

0.38

110

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

4.87

1.98

1.6

2.8

—

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

181

2.09

1.93

10.3

9.6

1.2

mmol/l

2.24

164

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

2.67

1.92

2.1

1.5

—

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

123

2.13

1.85

2.3

1.8

—

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

2.78

1.84

1.3

1.4

—

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

2.78

1.84

1.3

1.4

—

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

2.78

1.84

1.3

1.4

—

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

2.78

1.84

1.3

1.4

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.18

1.79

3.6

1.2

—

(3044889) 12 lead EKG panel

234

2.00

1.70

4.1

2.7

—

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

2.74

1.67

25.1

12.5

5.6

6.3

mmol/l

—

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

103

2.10

1.66

3.5

2.9

58.1

22.4

ng/l

0.39

(3023511) Choriogonadotropin [Units/volume] in Urine

3.23

1.63

1.3

1.2

—

(40768797) Stomach Pathology biopsy report

2.66

1.61

1.1

1.3

—

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

3.07

1.55

1.3

—

(3010130) Cytomegalovirus IgG Ab [Units/volume] in Serum or Plasma

3.07

1.55

1.3

1.9

—

83.1

—

(3000492) Spirometry study

2.62

1.54

3.2

1.3

—

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

2.93

1.48

1.2

1.3

—

(3007080) Epstein Barr virus nuclear IgG Ab [Units/volume] in Serum

3.12

1.39

1.4

3.1

254.0

127.4

u/ml

—

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

199

1.81

1.34

10.6

4.0

—

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

2.42

1.30

1.6

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

2.64

1.17

1.4

2.8

—

(3025941) Bacteria identified in Stool by Culture

2.64

1.17

2.0

1.5

—

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

2.51

1.11

4.0

1.3

—

(3000494) Fungus identified in Specimen by Culture

2.14

1.10

3.0

1.2

—

(3023368) Bacteria identified in Blood by Culture

1.84

1.07

6.5

4.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.86

1.07

2.9

4.9

—

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

1.90

1.06

3.8

1.9

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

2.39

1.05

1.2

—

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

1.99

1.05

3.8

1.9

—

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

1.91

1.00

3.9

1.9

—

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

156

1.68

1.00

2.1

—

(3026008) Bacteria identified in Urine by Culture

112

1.74

1.00

3.2

2.8

—

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

1.93

0.98

2.5

2.1

—

(3037467) Urinalysis macro (dipstick) panel - Urine

312

1.68

0.97

6.7

4.4

—

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

449

2.06

0.96

22.2

12.3

15.4

23.9

mg/l

1.79

334

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

159

1.63

0.92

2.0

1.7

—

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

1.95

0.90

2.8

6.2

—

(3050129) First trimester maternal screen panel - Serum or Plasma

1.95

0.90

1.6

1.4

—

(3018418) pH of Serum or Plasma

1.72

0.90

4.5

3.7

7.4

—

(40768804) Tissue Pathology biopsy report

152

1.61

0.86

2.2

1.8

—

(3012544) pH of Venous blood

1.82

0.85

20.3

11.7

—

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

0.00

0.81

0.0

1.7

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.81

0.0

1.5

—

(3042936) Bacteria identified in Isolate by Culture

1.79

0.79

2.7

1.9

—

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

2.28

0.78

1.2

1.9

—

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

2.19

0.76

2.2

1.8

—

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

2.19

0.76

1.2

1.8

—

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

1.91

0.76

24.0

14.2

24.7

25.5

mmol/l

—

(3000991) Gas panel - Venous blood

1.81

0.73

20.6

15.4

—

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

2.01

0.72

1.2

1.1

—

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

1.71

0.67

1.5

—

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

1.73

0.63

5.0

2.7

—

(3019832) Treponema pallidum Ab [Presence] in Serum

108

1.53

0.61

1.4

1.8

—

(3032080) INR in Blood by Coagulation assay

126

1.50

0.61

13.3

5.6

1.6

1.0

inr

—

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

1.85

0.61

1.5

2.4

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.85

0.61

1.7

1.5

—

(3015736) pH of Urine

164

1.45

0.58

3.1

3.6

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.57

0.58

1.5

1.7

—

(3009542) Hematocrit [Volume Fraction] of Blood

445

1.55

0.53

34.2

14.7

36.4

40.3

3.45

369

(1761868) Lipid panel - Serum or Plasma

140

0.65

0.51

1.5

2.1

—

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

390

1.44

0.47

3.7

3.8

—

(3013512) EKG study

1.49

0.45

3.6

4.0

—

(3002256) Pathology report gross observation

1.44

0.44

1.0

1.1

—

(40768443) Skin Pathology biopsy report

0.00

0.42

0.0

1.1

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.52

0.41

1.6

1.4

—

(3005033) Fetal Nuchal fold Thickness US

1.52

0.41

1.6

1.4

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.40

0.0

1.4

—

5.8

—

(40761536) Microorganisms panel - Urine sediment

1.47

0.40

3.8

2.5

—

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

1.52

0.37

2.2

—

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

101

1.37

0.36

2.7

3.3

0.0

estimate

—

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

148

1.32

0.35

1.6

1.9

—

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

113

1.32

0.30

1.7

2.7

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

0.70

0.26

3.7

4.0

1.5

1.8

ug/l

—

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

1.29

0.23

1.8

2.6

—

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

0.00

0.21

0.0

1.6

—

(36032269) Testosterone Free [Moles/volume] in Serum or Plasma by calculation

0.00

0.21

0.0

1.5

—

220.3

—

(3004529) Oxygen [Partial pressure] adjusted to patient's actual temperature in Venous blood

0.00

0.21

0.0

5.5

—

59.5

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.20

0.0

1.1

—

(3004248) Sex hormone binding globulin [Moles/volume] in Serum or Plasma

0.00

0.20

0.0

1.4

—

31.5

—

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

0.00

0.20

0.0

1.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.21

0.19

2.3

1.7

—

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

0.78

0.16

1.6

1.3

—

(40761511) CBC panel - Blood by Automated count

475

1.25

0.16

17.3

9.5

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

0.82

0.15

1.5

1.8

1.5

1.3

mmol/l

—

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

1.12

0.10

2.2

2.7

0.7

0.6

ug/l

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

393

0.90

0.08

4.2

3.6

4.2

4.7

mmol/l

2.46

366

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

210

1.08

0.04

4.9

5.4

0.0

estimate

—

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

116

0.94

0.01

3.7

—

(3041096) Erythrocytes [Presence] in Urine by Automated

107

1.03

0.00

2.6

2.7

—

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

117

1.03

0.00

2.9

2.6

51.9

56.5

u/l

0.25

109

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

145

0.95

0.00

2.9

3.3

—

(36660697) Celiac disease serology panel - Serum

0.83

0.00

1.4

1.2

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

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

0.00

0.0

2.8

—

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

0.00

0.0

1.6

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.0

2.0

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.3

—

(3034603) RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal

0.00

0.0

1.2

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

2.2

—

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

0.00

0.0

2.2

—

8.2

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

9.0

—

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

0.00

0.0

1.4

—

4.0

—

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

0.00

0.0

1.4

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.0

4.9

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

107.6

—

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

0.00

0.0

1.3

—

1.3

—

(4034850)

0.00

0.0

36.7

—

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

0.00

0.0

1.0

—

42.2

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

(3043453) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum

0.00

0.0

1.2

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

2.7

—

(3026179) Normetanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

0.5

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

0.0

1.0

—

106.6

—

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

0.00

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

8.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

7.3

—

(3041145) Herpes simplex virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.0

1.5

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.0

1.0

—

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

1.00

0.00

1.1

2.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_THALASSAEMIANAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_THALASSAEMIANAS.

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_THALASSAEMIANAS – Other and unspecified thalassaemias

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

Other and unspecified thalassaemias

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