Thalassaemia trait

D3_THALASSAEMIATRAIT

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 — D56.3 Hospital discharge: ICD-9 — 2824D Cause of death: ICD-10 — D56.3 Cause of death: ICD-9 — 2824D 2 out of 7 registries used, show all original rules.	45
4. Check minimum number of events None	45
5. Include endpoints None	45
6. Filter based on genotype QC (FinnGen only) None	0

Control definitions (FinnGen only)

Control exclude: D3_HAEMOLYTICANAEMIA

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF6
Parent code in ICD-10: D56
Name in latin: Proprietas thalassaemica

NAME	D3_THALASSAEMIATRAIT
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	D563
HD_ICD_9	2824D
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	D563
COD_ICD_9	2824D
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 Thalassaemia trait 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	560	264	231
Only index persons	343	187	156
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	16.05	18.00	9.66
Only index persons	23.62	28.44	17.83

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	-	-	-
Unadjusted period prevalence (%)	-	-	-
Median age at first event (years)	-	-	-

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

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.

No data available

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3032868) Hemoglobin electrophoresis panel in Blood

+∞

27.42

2.0

0.0

—

(3018095) Leukocytes [#/volume] in Urine

115

6.45

6.70

6.9

4.8

36.71

40.48

e6/l

0.04

(3013139) Helicobacter pylori Ag [Presence] in Stool

9.26

6.23

1.3

1.2

—

(3018418) pH of Serum or Plasma

5.02

5.72

9.5

2.8

7.40

0.08

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

4.78

5.38

4.6

4.0

0.23

0.15

e6/l

—

(3023368) Bacteria identified in Blood by Culture

4.91

5.17

4.1

4.3

—

(3002582) Erythrocytes [#/volume] in Urine

4.67

5.16

4.4

3.8

27.23

87.64

e6/l

0.52

(36304419) Bacteria [Presence] in Urine

4.49

4.96

4.8

3.8

—

estimate

—

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

107

4.37

4.67

2.1

1.5

107.95

93.53

pmol/l

1.01

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

4.39

4.50

4.8

3.8

0.28

0.78

e6/l

—

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

13.87

4.47

1.3

4.7

—

(42870588) Differential panel, method unspecified - Blood

106

3.96

4.14

7.5

8.7

—

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

3.81

3.97

5.2

4.0

—

(3014051) Protein [Presence] in Urine by Test strip

103

3.70

3.78

5.0

2.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

215

5.05

3.70

6.8

4.0

—

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

5.04

3.38

13.1

15.7

25.56

25.57

mmol/l

—

(3044889) 12 lead EKG panel

164

3.69

3.22

2.6

2.5

—

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

3.32

3.17

2.7

80.56

52.68

u/l

1.51

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

3.40

3.16

3.5

2.5

—

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

132

3.22

2.98

4.3

2.9

—

estimate

—

(3044640) Blood type and Crossmatch panel - Blood

3.03

2.74

3.2

2.5

—

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

200

3.37

2.73

12.8

10.2

3.81

4.08

e9/l

0.34

169

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

4.12

2.43

13.6

8.4

103.13

106.61

mmol/l

—

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

3.12

2.39

1.5

1.7

—

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

4.51

2.38

3.9

5.6

96.00

99.17

—

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

3.40

2.36

1.3

1.5

—

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

2.88

2.29

2.9

2.18

0.67

mg/l

—

(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

4.87

2.24

1.3

1.8

—

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

120

2.68

2.24

2.2

1.8

—

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

157

2.73

2.20

2.4

2.2

—

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

121

2.64

2.19

2.4

2.0

—

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

140

2.63

2.13

1.6

1.9

—

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

4.53

2.13

16.2

15.8

10.22

5.61

mmol/l

—

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

328

+∞

2.08

24.9

10.8

20.41

18.34

mg/l

0.21

253

(3015736) pH of Urine

143

2.54

2.00

5.0

2.9

6.06

6.14

—

(3000991) Gas panel - Venous blood

3.21

1.92

16.6

14.3

—

(3022313) Gas panel - Capillary blood

3.75

1.82

6.8

15.0

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

3.34

1.82

15.6

7.8

0.96

1.22

mmol/l

—

(3013512) EKG study

2.69

1.77

2.8

1.9

—

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

2.45

1.76

6.4

3.5

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

2.89

1.71

1.5

2.0

—

(4035726) Immunohistochemistry procedure

3.94

1.67

1.6

—

(3022145) Colonoscopy Study observation

2.94

1.60

1.0

1.9

—

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

3.67

1.57

1.8

1.3

—

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

2.30

1.46

3.1

2.2

36.33

16.75

ng/l

—

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

2.90

1.43

8.7

12.3

24.00

23.31

mmol/l

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.41

0.0

1.3

—

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

3.22

1.40

1.2

2.4

—

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

2.70

1.39

1.4

1.6

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

2.54

1.34

1.1

6.8

21.31

4.33

umol/l

—

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

2.63

1.20

1.3

1.9

—

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

2.02

1.14

2.5

1.6

—

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

2.58

1.12

4.4

1.8

—

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

2.58

1.12

2.8

1.4

—

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

2.58

1.12

2.2

1.4

—

(3000494) Fungus identified in Specimen by Culture

2.37

1.12

1.4

1.2

—

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

2.29

1.09

1.6

—

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

2.22

1.06

6.1

2.3

2.36

2.42

mmol/l

—

(3000492) Spirometry study

2.15

1.03

1.1

1.3

—

(40768797) Stomach Pathology biopsy report

2.44

0.98

1.7

1.2

—

(3002032) Base excess in Venous blood by calculation

2.44

0.98

8.8

10.9

0.65

mmol/l

—

(40758558) Short blood count panel - Blood

107

1.86

0.97

4.9

7.5

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

2.35

0.96

8.8

10.5

5.87

5.58

kpa

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

2.03

0.86

1.7

1.5

—

(3026008) Bacteria identified in Urine by Culture

1.85

0.84

2.4

2.3

—

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

1.97

0.83

1.7

1.1

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

231

1.81

0.78

5.0

3.7

9.71

7.23

mm/h

0.58

213

(3042936) Bacteria identified in Isolate by Culture

1.92

0.76

1.3

1.6

—

(3024354) Oxygen [Partial pressure] in Venous blood

2.15

0.76

6.0

10.4

6.14

5.13

kpa

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.06

0.73

1.2

—

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

1.90

0.69

1.0

1.1

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

1.66

0.66

2.3

4.1

29.50

28.33

u/l

0.08

(3043238) Trisomy 21 risk [Likelihood] in Fetus

1.84

0.61

1.8

1.6

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.60

0.0

2.0

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.60

0.0

1.6

—

0.35

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.79

0.60

1.3

1.6

—

(3007220) Creatine kinase [Enzymatic activity/volume] in Serum or Plasma

1.56

0.58

6.0

2.5

211.44

131.30

u/l

—

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

1.64

0.56

1.2

1.4

—

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

1.56

0.50

2.6

1.4

—

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

0.00

0.42

0.0

1.7

—

3.86

—

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

0.00

0.41

0.0

1.2

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.41

0.0

1.1

—

0.88

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.41

0.0

1.1

—

1.66

—

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

1.44

0.35

8.3

2.6

2.33

2.37

mmol/l

0.32

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

113

1.38

0.33

1.9

1.5

2.57

1.67

g/l

—

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

0.68

0.27

1.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.35

0.26

3.9

4.1

—

(40768804) Tissue Pathology biopsy report

102

0.73

0.25

2.1

1.9

—

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

0.00

0.22

0.0

2.1

—

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

0.00

0.21

0.0

2.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

112

1.24

0.17

2.1

1.8

—

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

1.19

0.10

3.2

2.6

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

243

0.86

0.09

7.7

3.4

39.23

35.62

mmol/mol

0.70

231

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

1.09

0.08

3.3

2.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.82

0.07

1.1

1.8

—

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

121

1.11

0.04

1.8

2.4

—

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

132

1.10

0.03

1.8

2.5

—

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

111

0.99

0.00

1.8

1.6

1.34

1.41

mmol/l

0.12

100

(1761868) Lipid panel - Serum or Plasma

115

0.94

0.00

3.3

1.9

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

225

1.06

0.00

4.2

3.6

56.09

28.39

u/l

0.70

217

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

0.00

-0.00

0.0

1.2

—

0.44

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

-0.00

0.0

1.0

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

0.00

-0.00

0.0

1.0

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

14.28

—

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

0.00

-0.00

0.0

1.0

—

(40761847) Hazelnut recombinant (rCor a) 8 IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.03

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

2.0

—

7.50

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.2

—

1.68

—

(37020937) Giardia lamblia DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3027273) Bicarbonate [Moles/volume] in Venous blood

0.00

-0.00

0.0

1.9

—

22.13

—

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

9.7

—

0.58

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.8

—

11.97

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

13.8

—

556.40

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

23.8

—

1107.80

—

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

1.02

-0.00

3.3

2.4

—

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

0.00

-0.00

0.0

1.2

—

(3016701) Glucose [Moles/volume] in Serum or Plasma --2 hours post dose glucose

0.00

-0.00

0.0

1.3

—

7.84

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

33.70

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

4.2

—

1.38

—

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

0.00

-0.00

0.0

1.0

—

149.62

—

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

0.00

-0.00

0.0

2.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_THALASSAEMIATRAIT and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_THALASSAEMIATRAIT.

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_THALASSAEMIATRAIT – Thalassaemia trait

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

Thalassaemia trait

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints