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	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 — 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.	37
4. Check minimum number of events None	37
5. Include endpoints None	37
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

+∞

26.14

2.0

0.0

—

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

5.67

6.42

1.7

1.5

99.71

89.11

pmol/l

—

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

5.13

5.71

3.1

3.9

0.23

0.12

e6/l

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

9.90

5.64

1.4

1.2

—

(3033658) Prothrombin time (PT) actual/Normal

5.05

5.56

4.7

7.2

84.79

93.33

1.00

(3002582) Erythrocytes [#/volume] in Urine

4.91

5.42

3.1

3.7

31.02

100.78

e6/l

0.49

(36304419) Bacteria [Presence] in Urine

4.71

5.13

3.3

3.7

—

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

4.13

4.33

3.8

—

(3018095) Leukocytes [#/volume] in Urine

4.07

4.21

4.9

4.6

43.10

34.21

e6/l

0.09

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

11.59

3.63

1.2

4.5

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

134

3.67

3.41

7.8

4.6

6.85

5.90

mmol/l

1.41

118

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

6.90

3.18

2.0

2.1

—

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

186

3.58

3.01

10.7

9.3

3.81

4.14

e9/l

0.43

158

(3023368) Bacteria identified in Blood by Culture

3.73

2.91

4.8

4.5

—

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

3.20

2.77

3.0

2.8

82.33

53.29

u/l

1.24

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

302

+∞

2.75

20.5

9.9

18.87

17.60

mg/l

0.10

224

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

4.56

2.64

13.9

17.5

25.08

25.44

mmol/l

—

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

5.13

2.62

1.6

6.1

94.43

96.69

—

(40760892) CBC W Ordered Manual Differential panel - Blood

147

2.80

2.26

7.0

7.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

195

2.79

2.06

6.0

3.8

—

(3044889) 12 lead EKG panel

134

2.58

2.02

2.5

2.4

—

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

4.26

2.02

14.8

10.3

103.00

106.81

mmol/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

4.63

1.88

1.2

1.9

—

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

2.69

1.85

1.9

3.0

2.21

0.69

mg/l

—

(40758558) Short blood count panel - Blood

2.51

1.83

4.9

9.5

—

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

3.35

1.83

1.1

2.0

—

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

3.00

1.78

1.4

1.7

—

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

4.27

1.77

1.0

2.7

—

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

3.95

1.67

16.8

15.6

11.18

5.75

mmol/l

—

(4035726) Immunohistochemistry procedure

3.95

1.67

1.6

—

(3013707) Erythrocyte sedimentation rate by Westergren method

204

2.53

1.65

4.4

3.5

9.61

7.78

mm/h

0.39

187

(3000494) Fungus identified in Specimen by Culture

2.95

1.60

1.3

1.2

—

(40768797) Stomach Pathology biopsy report

3.20

1.57

1.7

1.2

—

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

2.43

1.54

2.9

2.0

41.80

19.74

ng/l

—

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

2.43

1.54

3.5

2.4

—

(3022145) Colonoscopy Study observation

3.05

1.50

1.0

1.8

—

(3044640) Blood type and Crossmatch panel - Blood

2.28

1.47

3.1

2.4

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.44

0.0

1.3

—

(3022313) Gas panel - Capillary blood

3.23

1.40

8.0

15.6

—

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

105

2.15

1.38

2.5

1.9

—

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

123

2.12

1.37

4.3

2.5

—

(3013512) EKG study

2.55

1.34

3.4

2.1

—

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

3.04

1.33

7.8

14.0

23.60

23.22

mmol/l

—

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

3.04

1.33

2.8

1.3

—

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

2.20

1.32

2.5

1.5

—

(3000991) Gas panel - Venous blood

2.66

1.30

18.5

15.4

—

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

2.72

1.19

3.8

1.8

—

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

2.32

1.16

1.4

1.8

—

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

2.59

1.13

1.0

1.1

—

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

121

1.95

1.11

1.7

1.8

—

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

2.19

0.92

1.3

1.6

—

(3000492) Spirometry study

2.19

0.92

1.2

1.3

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.11

0.89

1.3

1.7

—

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

2.11

0.89

1.3

1.5

—

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

110

1.80

0.88

2.4

1.7

—

(3026008) Bacteria identified in Urine by Culture

1.91

0.87

2.4

2.2

—

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

1.80

0.80

5.7

2.4

211.44

130.39

u/l

—

(3002032) Base excess in Venous blood by calculation

2.35

0.79

8.0

11.4

0.32

0.63

mmol/l

—

(3012544) pH of Venous blood

2.25

0.78

8.0

11.3

—

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

2.25

0.78

8.0

11.0

5.80

5.51

kpa

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.15

0.76

1.2

—

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

1.71

0.73

1.6

1.5

2.63

1.74

g/l

—

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

1.90

0.69

1.6

1.1

—

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

1.83

0.66

1.2

7.8

29.90

4.48

umol/l

—

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

137

1.61

0.65

2.7

2.0

—

(3042936) Bacteria identified in Isolate by Culture

1.91

0.62

1.3

1.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.64

0.56

3.0

2.4

—

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

1.59

0.54

2.8

1.5

—

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

1.64

0.54

4.7

3.2

—

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

1.49

0.48

1.6

1.4

1.31

1.34

mmol/l

—

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

1.65

0.44

1.4

1.5

—

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

1.65

0.44

1.4

1.5

—

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

1.65

0.44

1.4

1.5

—

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

1.65

0.44

1.4

1.5

—

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

0.00

0.42

0.0

1.5

—

3.87

—

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

0.00

0.42

0.0

1.2

—

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

0.00

0.41

0.0

1.6

—

(3000963) Hemoglobin [Mass/volume] in Blood

352

+∞

0.41

31.1

14.4

115.86

136.68

g/l

10.16

346

(3035941) MCH [Entitic mass]

352

+∞

0.41

30.8

14.3

22.52

29.77

16.37

346

(3024731) MCV [Entitic volume]

352

+∞

0.41

30.8

14.3

70.95

88.65

15.81

346

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

1.40

0.25

1.8

1.7

—

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

0.00

0.22

0.0

1.6

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.22

0.0

1.2

—

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

102

1.26

0.18

2.9

2.5

—

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

0.76

0.17

1.5

—

(40768804) Tissue Pathology biopsy report

0.86

0.08

2.0

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.15

0.06

2.1

1.7

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

201

1.10

0.04

6.7

3.0

38.42

35.80

mmol/mol

0.48

190

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

116

0.93

0.01

1.8

2.4

—

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

196

0.94

0.01

4.4

3.3

43.16

28.39

u/l

0.42

188

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

105

1.07

0.00

1.8

2.3

—

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

0.86

0.00

2.8

1.9

—

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

0.98

-0.00

2.4

1.9

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

10.4

—

548.80

—

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

0.00

-0.00

0.0

2.0

—

1.73

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.2

—

13.17

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

2.5

—

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

0.00

-0.00

0.0

1.0

—

36.18

—

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

0.00

-0.00

0.0

1.0

—

223.83

—

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

0.00

-0.00

0.0

1.2

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

3.4

—

1.50

—

(21492711) Cytomegalovirus IgG Ab avidity [Presence] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

1.6

—

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

1.02

-0.00

1.7

1.5

—

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

0.00

-0.00

0.0

2.4

—

(1761868) Lipid panel - Serum or Plasma

0.91

-0.00

3.8

1.6

—

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

0.00

-0.00

0.0

22.4

—

1238.00

—

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

0.00

-0.00

0.0

1.0

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

2.2

—

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

0.00

-0.00

0.0

1.0

—

0.03

—

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

0.00

-0.00

0.0

1.0

—

14.28

—

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

0.00

-0.00

0.0

1.9

—

22.13

—

(3049804) Myeloperoxidase IgG Ab [Units/volume] in Serum

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.6

—

12.22

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.0

—

7.50

—

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

0.00

-0.00

0.0

1.3

—

7.84

—

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