Thalassaemia trait

D3_THALASSAEMIATRAIT

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 — D56.3 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.	36
4. Check minimum number of events None	36
5. Include endpoints None	36
6. Filter based on genotype QC (FinnGen only)	36

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	36	24	12
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	27.76	26.41	30.44

-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 (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.

No data available

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

+∞

23.49

2.1

0.0

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

9.46

7.62

1.4

1.2

—

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

6.84

7.57

1.8

1.5

100.3

90.7

pmol/l

—

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

5.27

5.75

3.1

3.9

0.2

0.1

e6/l

—

(42870588) Differential panel, method unspecified - Blood

5.31

5.66

5.8

8.7

—

(3002582) Erythrocytes [#/volume] in Urine

5.15

5.57

3.1

3.7

31.0

100.6

e6/l

0.49

(3033658) Prothrombin time (PT) actual/Normal

5.07

5.47

4.7

6.3

84.8

94.0

1.13

(36304419) Bacteria [Presence] in Urine

4.83

5.17

3.3

3.7

—

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

4.31

4.46

3.7

3.9

—

(3018095) Leukocytes [#/volume] in Urine

4.32

4.42

4.9

4.6

43.1

34.1

e6/l

0.09

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

127

4.17

3.91

7.9

4.6

6.7

5.9

mmol/l

1.02

112

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

11.64

3.64

1.2

4.5

—

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

178

4.22

3.45

10.7

9.6

3.8

4.2

e9/l

0.46

153

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

5.92

2.88

2.0

—

(3023368) Bacteria identified in Blood by Culture

3.73

2.88

5.1

4.8

—

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

292

+∞

2.76

20.8

10.0

18.8

17.3

mg/l

0.12

214

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

5.51

2.75

1.6

5.9

94.4

99.7

—

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

5.15

2.62

14.3

15.0

25.1

26.0

mmol/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

192

3.05

2.32

6.1

3.8

—

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

2.94

2.31

3.1

2.9

81.7

53.9

u/l

1.06

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

2.88

2.16

1.8

2.8

2.0

0.7

mg/l

—

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

2.83

2.09

3.5

2.3

—

(3009542) Hematocrit [Volume Fraction] of Blood

306

+∞

2.08

25.7

11.0

36.6

40.6

3.91

267

(3044889) 12 lead EKG panel

135

2.62

2.01

2.5

2.4

—

(40758558) Short blood count panel - Blood

2.63

1.96

4.9

9.5

—

(3044640) Blood type and Crossmatch panel - Blood

2.63

1.96

3.1

2.3

—

(3013512) EKG study

2.99

1.90

3.1

2.0

—

(3013707) Erythrocyte sedimentation rate by Westergren method

202

2.73

1.89

4.4

3.6

9.6

8.0

mm/h

0.32

185

(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

4.65

1.89

1.2

1.9

—

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

3.13

1.86

1.4

1.8

—

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

3.36

1.83

1.1

2.0

—

(4035726)

4.28

1.77

1.6

1.5

—

(3000494) Fungus identified in Specimen by Culture

3.09

1.68

1.3

1.2

—

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

3.96

1.67

1.0

2.6

—

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

3.96

1.67

16.8

15.2

11.2

5.7

mmol/l

—

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

2.55

1.67

2.9

2.0

41.8

20.0

ng/l

—

(3000991) Gas panel - Venous blood

3.21

1.58

18.5

17.5

—

(40768797) Stomach Pathology biopsy report

2.92

1.43

1.7

1.2

—

(21494755) Public health laboratory ask at order entry panel

0.00

1.42

0.0

1.3

—

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

2.39

1.39

1.4

1.7

—

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

123

2.15

1.38

6.0

3.9

—

(3022145) Colonoscopy Study observation

2.79

1.36

1.0

1.9

—

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

3.05

1.33

1.0

1.1

—

(3019225) pH of Specimen

3.05

1.33

11.2

4.3

—

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

2.18

1.28

2.5

1.5

—

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

108

2.09

1.27

2.5

1.9

—

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

117

2.08

1.27

1.7

—

(3002032) Base excess in Venous blood by calculation

2.88

1.26

8.0

12.9

0.3

1.1

mmol/l

—

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

2.88

1.26

2.8

1.3

—

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

2.73

1.19

8.0

12.4

5.8

5.6

kpa

—

(3012544) pH of Venous blood

2.73

1.19

8.0

12.7

—

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

2.59

1.13

3.8

1.8

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.59

1.13

1.2

1.1

—

(3000492) Spirometry study

2.28

0.94

1.2

1.3

—

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

1.88

0.93

1.6

1.5

2.6

1.8

g/l

—

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

2.19

0.92

1.3

1.5

—

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

2.19

0.92

1.3

1.6

—

(3026008) Bacteria identified in Urine by Culture

1.96

0.91

2.4

2.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.12

0.89

1.3

1.7

—

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

111

1.79

0.86

2.4

1.7

—

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

1.98

0.83

1.3

1.5

—

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

1.98

0.83

1.3

1.5

—

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

1.98

0.83

1.3

1.5

—

(3042936) Bacteria identified in Isolate by Culture

1.98

0.83

1.3

1.5

—

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

1.98

0.83

1.3

1.5

—

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

1.81

0.80

5.7

2.4

211.4

130.7

u/l

—

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

1.85

0.74

4.7

3.4

—

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

1.91

0.69

1.2

6.4

29.9

4.5

umol/l

—

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

1.91

0.69

1.6

1.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.67

0.59

3.0

2.5

—

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

1.74

0.59

1.7

—

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

140

1.57

0.58

2.7

2.1

—

(3015736) pH of Urine

112

1.58

0.57

4.1

2.8

—

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

1.53

0.49

1.6

1.3

1.4

mmol/l

—

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

0.00

0.42

0.0

1.2

—

(3024731) MCV [Entitic volume]

343

+∞

0.42

31.8

14.4

70.4

88.9

16.29

337

(3000963) Hemoglobin [Mass/volume] in Blood

343

+∞

0.42

32.1

14.5

115.6

137.0

g/l

10.17

337

(3035941) MCH [Entitic mass]

343

+∞

0.42

31.7

14.4

22.3

29.8

16.82

337

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

0.00

0.41

0.0

1.9

—

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

1.51

0.38

2.8

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.41

0.30

3.5

4.0

—

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

1.34

0.25

2.9

2.6

—

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

1.41

0.25

1.4

—

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

1.25

0.23

3.6

2.6

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.22

0.0

1.2

—

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

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

2.2

—

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

1.21

0.19

1.6

1.5

—

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

0.72

0.17

1.5

1.4

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

202

1.23

0.16

6.9

3.0

38.3

35.8

mmol/mol

0.48

192

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

104

1.23

0.15

1.8

2.4

—

(1761868) Lipid panel - Serum or Plasma

0.86

0.08

3.8

1.6

—

(3019832) Treponema pallidum Ab [Presence] in Serum

1.12

0.03

2.1

1.7

—

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

115

1.07

0.00

1.8

2.5

—

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

199

1.01

0.00

4.3

3.2

41.4

28.3

u/l

0.38

191

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

0.00

0.0

2.2

—

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

0.00

0.0

2.2

—

22.6

—

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

0.00

0.0

22.4

—

1238.0

—

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

0.00

0.0

1.0

—

36.2

—

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

0.00

0.0

1.8

—

1.8

—

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

0.00

0.0

1.0

—

265.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.2

—

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

0.00

0.0

3.4

—

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

10.4

—

548.8

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

(3035637) Corticotropin [Mass/volume] in Plasma

0.00

0.0

1.8

—

(40768804) Tissue Pathology biopsy report

0.99

0.00

1.9

—

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

0.00

0.0

2.0

—

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

0.84

0.00

2.8

1.9

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

2.2

—

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

0.98

0.00

2.4

2.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

13.0

—

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 (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints