Qualitative platelet defects

D3_QUALIPATELETDEF

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 — D69.1 Hospital discharge: ICD-9 — 2871 Hospital discharge: ICD-8 — 28730 Cause of death: ICD-10 — D69.1 Cause of death: ICD-9 — 2871 Cause of death: ICD-8 — 28730 2 out of 7 registries used, show all original rules.	134
4. Check minimum number of events None	134
5. Include endpoints None	134
6. Filter based on genotype QC (FinnGen only)	134

Control definitions (FinnGen only)

Control exclude: D3_COAGDEF_PURPUR_HAEMORRHAGIC

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D69
Name in latin: Defectus qualitativi thrombocytorum

NAME	D3_QUALIPATELETDEF
CONTROL_EXCLUDE	D3_COAGDEF_PURPUR_HAEMORRHAGIC
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D691
HD_ICD_9	2871
HD_ICD_8	28730
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D691
COD_ICD_9	2871
COD_ICD_8	28730
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 Qualitative platelet defects 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	867	530	331
Only index persons	724	456	268
Unadjusted period prevalence (%)
Whole population	0.01	0.02	0.01
Only index persons	0.01	0.02	0.01
Median age at first event (years)
Whole population	49.02	48.30	49.74
Only index persons	46.38	45.50	47.87

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	134	89	45
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	48.98	43.31	60.21

-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
128: Matched controls
1281

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D69.1

ICD-10 Finland

Qualitative platelet defects

+∞

169.1

122

D69.6

ICD-10 Finland

Thrombocytopenia, unspecified

247.6

36.9

D69.3

ICD-10 Finland

Idiopathic thrombocytopenic purpura

+∞

35.0

B02AA02

ATC

tranexamic acid; systemic

7.6

19.7

109

D68.9

ICD-10 Finland

Coagulation defect, unspecified

+∞

11.6

129

Kela drug reimbursment

Idiopathic thrombocytopaenia or granulocytopenia

+∞

11.6

D69.9

ICD-10 Finland

Haemorrhagic condition, unspecified

+∞

10.6

D75.2

ICD-10 Finland

Essential thrombocytosis

59.6

9.8

XW000

NOMESCO Finland

Bone marrow biopsy

10.8

9.6

D68.0

ICD-10 Finland

Von Willebrand disease

+∞

9.5

D61.9

ICD-10 Finland

Aplastic anaemia, unspecified

+∞

8.4

117

Kela drug reimbursment

Leukaemia and other malignant diseases of the blood and bone marrow, and malignant diseases of the lymphatic tissue

8.3

8.0

D47.3

ICD-10 Finland

Essential (haemorrhagic) thrombocythaemia

48.0

7.8

H02AB06

ATC

prednisolone; systemic

2.8

7.6

408

126

Kela drug reimbursment

Chronic coagulation defects

+∞

7.4

D69.4

ICD-10 Finland

Other primary thrombocytopenia

+∞

7.4

WW500

NOMESCO Finland

Blood transfusion

6.8

7.1

D45

ICD-10 Finland

Polycythaemia vera

42.4

6.8

O99.1

ICD-10 Finland

Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium

73.4

6.5

D68.8

ICD-10 Finland

Other specified coagulation defects

+∞

6.3

D69.0

ICD-10 Finland

Allergic purpura

+∞

6.3

B02BX05

ATC

eltrombopag; oral

+∞

6.3

L04AD01

ATC

ciclosporin; systemic

13.4

6.2

L04AX01

ATC

azathioprine; systemic

7.9

6.1

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(43055222) Platelet function.collagen + Adenosine diphosphate induced and EPINEPHrine induced panel - Blood

+∞

22.53

1.9

0.0

—

(3022250) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma by Lactate to pyruvate reaction

105

6.15

20.65

5.3

3.9

245.5

237.3

u/l

0.12

(3018677) aPTT in Platelet poor plasma by Coagulation assay

159

5.17

18.70

3.6

3.1

30.0

29.6

0.19

154

(3036489) Thrombin time

7.10

15.96

4.6

3.8

21.9

21.0

0.68

(3023520) Reticulocytes [#/volume] in Blood

5.29

14.79

3.3

2.2

74.4

66.0

e9/l

0.68

(3000093) Morphology [Interpretation] in Blood Narrative

12.98

12.82

1.3

1.1

—

(42870588) Differential panel, method unspecified - Blood

392

3.37

10.86

8.7

5.4

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

8.14

8.55

1.1

1.2

—

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

9.74

8.19

1.5

5.7

105.0

99.0

—

(3002179) Metamyelocytes/100 leukocytes in Blood

3.39

6.05

7.2

3.6

0.0

0.5

—

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

693

2.64

5.83

15.9

8.9

4.1

4.0

e9/l

0.25

605

(3021589) Normoblasts [#/volume] in Blood

520

2.41

5.73

17.4

9.1

0.0

e9/l

0.41

419

(3017181) Myelocytes/100 leukocytes in Blood

3.04

5.27

6.9

3.6

1.0

1.1

—

(3025159) Blasts/100 leukocytes in Blood

3.14

5.19

7.0

3.7

0.0

0.4

—

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

563

2.32

5.18

8.7

6.3

11.8

10.6

umol/l

0.66

530

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

5.32

4.86

5.3

2.9

61.1

59.4

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

5.32

4.86

5.3

2.9

4.4

4.7

e9/l

—

(40758558) Short blood count panel - Blood

308

2.26

4.83

10.0

7.4

—

(3021440) Promyelocytes/100 leukocytes in Blood

2.83

4.22

7.4

3.6

0.0

0.2

—

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

245

2.11

3.72

3.3

2.0

2.2

1.0

mg/l

0.69

194

(3045142) Bone marrow Pathology biopsy report

7.31

3.40

1.0

1.1

—

(3023368) Bacteria identified in Blood by Culture

269

1.88

2.77

5.1

4.1

—

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

2.38

2.73

5.2

7.1

24.6

25.5

mmol/l

0.59

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.83

2.71

2.4

2.5

—

(3032080) INR in Blood by Coagulation assay

407

1.75

2.52

12.3

7.3

1.5

1.2

inr

1.26

122

(3032773) Endomysium IgG Ab [Titer] in Serum

4.55

2.51

1.1

—

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

3.80

2.40

1.9

1.7

—

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

108

2.12

2.31

2.2

1.4

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

5.72

2.23

2.6

1.1

29.8

33.4

—

(3018418) pH of Serum or Plasma

326

1.68

2.06

4.6

4.1

7.4

0.14

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

113

2.02

2.06

2.5

1.5

—

(3016417) Amylase.pancreatic [Enzymatic activity/volume] in Serum or Plasma

2.07

2.02

2.2

2.8

32.7

29.1

u/l

0.33

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

511

1.62

2.02

4.7

4.0

—

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

551

1.61

1.98

7.5

6.5

1.2

mmol/l

0.02

472

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

3.08

1.97

1.1

1.2

—

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

3.08

1.97

1.1

1.2

—

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

3.87

1.95

1.0

1.3

—

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

3.30

1.90

1.7

1.3

—

(3002032) Base excess in Venous blood by calculation

125

1.91

1.86

2.5

4.7

2.3

1.8

mmol/l

0.27

(4268621)

3.64

1.86

5.3

1.7

—

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

4.28

1.84

1.0

1.1

—

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

2.01

1.81

7.2

8.5

7.6

mmol/l

0.24

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

158

1.80

1.79

2.3

1.6

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

3.95

1.73

1.4

1.2

—

(40760892) CBC W Ordered Manual Differential panel - Blood

262

1.63

1.67

10.2

4.9

—

(3013290) Carbon dioxide [Partial pressure] in Blood

3.09

1.60

1.7

2.1

4.6

4.8

kpa

—

(3027315) Oxygen [Partial pressure] in Blood

3.09

1.60

1.7

2.1

9.6

9.5

kpa

—

(3037522) Nuclear Ab [Titer] in Serum

149

1.74

1.54

1.8

1.5

424.0

470.3

titre

—

(40760888) Immunoglobulin light chains.free panel - Serum

3.42

1.53

1.0

5.1

—

(4306422)

3.42

1.53

1.4

1.1

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

2.68

1.53

1.1

—

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

110

1.85

1.52

2.9

2.4

397.1

376.0

nmol/l

0.26

101

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.94

1.52

2.0

1.1

—

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

349

1.53

1.50

5.2

3.0

28.7

28.9

u/l

0.02

328

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

1.88

1.47

3.9

3.1

—

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

2.00

1.45

1.2

1.5

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

2.81

1.45

1.2

2.5

14.5

11.3

mg/l

—

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

2.81

1.45

1.3

1.5

—

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

2.49

1.41

2.0

3.0

1.2

1.4

mmol/l

—

(40768443) Skin Pathology biopsy report

2.22

1.36

1.1

1.2

—

(3044640) Blood type and Crossmatch panel - Blood

356

1.49

1.35

2.4

2.3

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

497

1.46

1.34

6.7

6.4

1.2

mmol/l

0.16

457

(4034850)

0.00

1.33

0.0

12.6

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

2.30

1.26

2.5

1.6

—

(1616796) Gas panel - Central venous blood

2.69

1.22

2.6

3.2

—

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

2.17

1.20

1.6

1.5

—

(46235759) Influenza virus B RNA [Presence] in Nasopharynx by NAA with probe detection

0.00

1.17

0.0

1.9

—

(3044254) Respiratory syncytial virus RNA [Presence] in Specimen by NAA with probe detection

0.00

1.17

0.0

1.8

—

(3042936) Bacteria identified in Isolate by Culture

153

1.61

1.16

1.7

1.8

—

(3000330) Specific gravity of Urine by Test strip

1.94

1.11

5.5

3.7

—

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

2.01

1.11

2.8

1.7

—

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

262

1.45

1.04

2.3

2.1

—

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

2.32

1.04

4.6

1.8

—

(40768797) Stomach Pathology biopsy report

141

1.58

1.02

1.4

1.3

—

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

108

1.66

1.02

1.7

2.0

—

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

2.05

1.01

1.1

1.2

—

(3019060) Gas panel - Arterial blood

1.84

0.97

2.9

4.3

—

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

2.12

0.90

2.2

3.0

5.9

6.9

mmol/l

—

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

1.85

0.90

1.8

3.8

27.1

24.5

mmol/l

—

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

1.91

0.89

1.3

1.2

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

2.05

0.88

2.0

1.3

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

182

1.46

0.86

8.7

3.3

146.8

176.8

ng/l

0.08

127

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

309

1.37

0.84

3.6

3.1

0.1

0.3

e6/l

1.89

231

(3019832) Treponema pallidum Ab [Presence] in Serum

114

1.56

0.84

1.3

1.7

—

(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

1.79

0.84

2.1

1.4

—

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

1.78

0.82

2.8

4.2

43.7

47.0

—

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

1.73

0.81

1.9

3.3

128.4

132.1

g/l

0.26

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

311

1.36

0.81

1.3

1.5

—

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

377

1.34

0.80

4.1

3.4

—

(4094501)

0.00

0.80

0.0

1.2

—

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

0.00

0.80

0.0

1.3

—

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

1.80

0.77

1.5

1.4

—

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

1.80

0.77

1.5

1.6

—

(3003888) Timothy IgE Ab [Units/volume] in Serum

2.22

0.77

1.2

8.6

4.7

u/ml

—

(3002523) Influenza virus A Ag [Presence] in Specimen

2.22

0.77

1.0

1.1

—

(3003740) Influenza virus B Ag [Presence] in Specimen

2.22

0.77

1.0

1.1

—

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

553

1.30

0.76

4.8

3.8

0.0

estimate

0.00

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

178

1.42

0.75

2.6

3.0

1.5

2.8

e6/l

0.69

(3005702) Mycobacterium sp identified in Specimen by Organism specific culture

2.12

0.75

1.0

1.4

—

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

2.12

0.75

1.8

1.7

—

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

555

1.29

0.73

6.3

5.2

0.0

estimate

0.00

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

2.04

0.73

1.2

1.3

—

(3018251) Fasting glucose [Moles/volume] in Serum or Plasma

1033

0.75

0.72

4.7

4.3

5.9

mmol/l

0.10

954

(3024891) Influenza virus A+B Ag [Presence] in Specimen

1.79

0.72

1.1

—

(40768804) Tissue Pathology biopsy report

449

1.30

0.72

2.2

2.0

—

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

217

1.37

0.69

1.9

1.8

—

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

1.57

0.69

1.5

1.8

—

(3002256) Pathology report gross observation

129

1.46

0.68

1.3

1.2

—

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

560

1.27

0.67

4.8

3.8

0.0

estimate

0.00

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

1.66

0.67

1.1

1.8

—

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

192

1.37

0.65

2.5

2.8

0.8

1.0

e6/l

0.27

111

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

257

1.32

0.63

4.6

3.6

—

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

285

1.31

0.63

1.9

1.4

2.0

2.1

g/l

0.35

167

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

1.64

0.62

9.6

6.3

—

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

1.64

0.62

1.8

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

203

1.35

0.62

1.4

1.3

16.0

31.4

iu/ml

1.24

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

1.50

0.62

8.0

5.3

1.1

1.2

mmol/l

0.23

(3002582) Erythrocytes [#/volume] in Urine

333

1.29

0.61

3.5

3.4

35.1

220.5

e6/l

0.46

251

(3007853) Bacteria identified in Skin by Aerobe culture

132

1.42

0.61

2.4

1.6

—

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

1.75

0.58

1.0

1.2

—

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

1.51

0.58

2.3

1.5

—

(3009542) Hematocrit [Volume Fraction] of Blood

108

1018

1.31

0.56

28.6

13.8

39.2

39.3

0.09

769

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

1.51

0.56

1.1

1.4

—

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

394

1.26

0.56

2.1

1.9

87.6

97.2

pmol/l

1.03

184

(3000991) Gas panel - Venous blood

108

1.44

0.56

7.5

7.1

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.54

0.56

1.3

2.5

—

(3041096) Erythrocytes [Presence] in Urine by Automated

309

1.27

0.55

4.2

3.5

—

(40761536) Microorganisms panel - Urine sediment

1.47

0.55

6.8

3.6

—

(3000492) Spirometry study

100

1.45

0.54

1.2

1.5

—

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

396

1.25

0.53

4.1

3.7

16.2

39.0

ng/l

1.55

265

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

426

1.24

0.52

5.2

3.8

—

(3013512) EKG study

285

0.77

0.50

3.3

4.0

—

(36304419) Bacteria [Presence] in Urine

304

1.25

0.49

3.5

3.1

—

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

117

0.66

0.48

14.1

8.4

—

(1002224) Polysomnography panel

1.48

0.47

1.1

1.2

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.49

0.45

3.3

2.5

122.0

189.4

ng/l

—

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

176

1.30

0.45

1.5

1.7

1321.4

1153.8

nmol/l

0.35

135

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.46

0.43

2.0

3.1

0.9

1.2

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

1.64

0.43

2.2

1.4

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

1.64

0.43

1.2

1.5

—

0.1

—

(3018095) Leukocytes [#/volume] in Urine

395

1.21

0.43

3.8

4.1

45.5

66.3

e6/l

0.29

279

(3014162) Mycobacterium tuberculosis DNA [Presence] in Specimen by NAA with probe detection

1.58

0.42

3.2

2.0

—

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

1.53

0.42

6.0

4.7

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(3051014) Leukocytes [#/area] in Urine sediment by Automated count

0.00

0.41

0.0

1.8

—

3.6

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

0.41

0.0

1.0

—

3.8

—

(40768800) Prostate Pathology biopsy report

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.3

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.41

0.0

1.9

—

(4035726)

103

0.66

0.41

2.0

1.5

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.41

0.0

1.5

—

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

1.49

0.41

1.2

1.9

—

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

180

1.27

0.39

1.4

1.6

—

(3025941) Bacteria identified in Stool by Culture

1.33

0.38

1.3

—

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

1.37

0.37

2.0

1.3

99.6

113.5

iu/ml

—

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

287

1.20

0.34

5.7

4.0

0.0

estimate

0.00

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

249

1.21

0.34

1.7

—

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

114

1100

1.24

0.34

23.4

13.4

18.9

22.4

mg/l

0.76

104

853

(3005785) Creatine kinase.MB [Mass/volume] in Serum or Plasma

1.35

0.33

3.6

2.7

6.4

4.9

ug/l

0.13

(3037467) Urinalysis macro (dipstick) panel - Urine

783

1.16

0.31

4.8

4.2

—

(21494755) Public health laboratory ask at order entry panel

110

0.71

0.30

1.6

1.4

—

(3020682) Albumin/Creatinine [Ratio] in Urine

298

0.84

0.29

4.9

3.8

2.8

9.6

mg/mmol

1.95

179

(3000494) Fungus identified in Specimen by Culture

131

1.25

0.29

1.9

1.4

—

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

292

1.17

0.29

3.3

1084.4

1090.7

ng/l

0.01

243

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

159

1.23

0.28

4.4

6.5

1.1

mmol/l

0.24

145

(3020630) Protein [Mass/volume] in Serum or Plasma

1.25

0.26

1.3

2.8

67.1

66.1

g/l

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.29

0.23

1.7

1.2

—

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

0.00

0.21

0.0

1.7

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.21

0.0

1.1

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.21

0.0

2.5

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.21

0.0

2.2

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

0.21

0.0

1.0

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.21

0.0

2.1

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.2

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.21

0.0

1.2

—

(3029634) Reagin Ab [Titer] in Serum by VDRL

0.00

0.21

0.0

1.7

—

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3051611) Lipemic interference index of Serum or Plasma

0.00

0.21

0.0

2.3

—

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

1.23

0.20

1.3

1.8

—

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

0.00

0.20

0.0

1.4

—

18.8

—

(3023430) Cat dander IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.1

—

1.4

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

1.1

—

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

128

1.19

0.19

1.3

1.6

—

(3001019) Free T4 and TSH panel - Serum or Plasma

1.16

0.18

1.7

1.8

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

1.19

0.17

1.5

1.3

—

(3044491) Cholesterol non HDL [Mass/volume] in Serum or Plasma

1.19

0.17

1.5

—

(1761868) Lipid panel - Serum or Plasma

382

1.11

0.17

2.8

2.9

—

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

1.15

0.16

1.0

1.1

—

(3019225) pH of Specimen

0.81

0.15

3.0

4.8

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

221

0.89

0.14

3.4

4.5

26.4

22.6

0.41

107

(3041942) Cyclic citrullinated peptide Ab [Units/volume] in Serum

193

1.10

0.10

1.3

1.6

10.5

u/ml

—

(3045414) Leukocytes [Presence] in Urine

1.14

0.10

4.6

1.7

—

(3020891) Body temperature

1.14

0.10

2.4

5.6

—

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

145

0.89

0.10

2.5

2.0

—

(42529406) Shigella sp [Presence] in Stool by Culture

1.09

0.09

1.6

1.2

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

1.09

0.09

1.6

1.2

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

1.09

0.09

1.6

1.2

—

(3026008) Bacteria identified in Urine by Culture

323

1.07

0.08

4.2

3.0

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

1.15

0.08

3.3

5.0

5.4

5.1

kpa

—

(3022313) Gas panel - Capillary blood

1.12

0.08

3.1

5.6

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

1.08

0.08

1.7

1.3

—

(3022145) Colonoscopy Study observation

127

1.11

0.08

1.2

1.3

—

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

772

1.06

0.08

3.3

3.4

—

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

723

1.05

0.07

5.1

4.6

—

58.7

—

(3000850) Epithelial cells [#/volume] in Urine

227

1.07

0.06

3.3

2.9

3.5

8.8

e6/l

0.82

201

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

129

0.92

0.04

2.3

1.9

—

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

199

0.95

0.03

1.6

1.4

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

116

1152

1.05

0.02

25.7

15.1

73.4

umol/l

0.00

116

1152

(40761511) CBC panel - Blood by Automated count

114

1148

0.95

0.02

24.7

11.8

—

(3044889) 12 lead EKG panel

739

0.97

0.02

4.8

3.6

—

(36660697) Celiac disease serology panel - Serum

113

1.07

0.02

1.3

1.2

—

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

116

1156

1.03

0.00

15.4

10.0

23.2

24.2

u/l

0.23

116

1123

(3019050) Tissue transglutaminase IgA Ab [Units/volume] in Serum

299

1.00

0.00

1.7

1.4

1.3

1.7

u/ml

—

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

989

1.00

0.00

3.8

4.0

1.4

1.2

mmol/l

1.13

906

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

989

1.00

0.00

22.1

12.4

84.0

82.5

ml/min/173m2

0.27

782

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

145

0.96

0.00

1.3

1.5

—

(3026470) Cobalt [Mass/volume] in Blood

0.00

0.0

1.6

—

1.3

—

(37020445) Astrovirus RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(37021247) Adenovirus 40+41 DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

2.6

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

0.0

1.2

—

(40757494) Bilirubin.total [Moles/volume] in Blood

0.00

0.0

2.1

—

(3044936) Clostridioides difficile toxin A+B [Presence] in Stool by Immunoassay

0.00

0.0

1.4

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.1

—

(3036432) Mycobacterium tuberculosis genotype [Identifier] in Isolate

0.00

0.0

7.2

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3039602) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Capillary blood

0.00

0.0

1.2

—

1.2

—

(42869593) Oxyhemoglobin/Hemoglobin.total [Pure mass fraction] in Capillary blood

0.00

0.0

1.4

—

(3036428) Adenosine deaminase [Enzymatic activity/volume] in Pleural fluid

0.00

0.0

1.0

—

6.6

—

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

0.00

0.0

1.4

—

(3052649) Adenosine deaminase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.0

—

16.0

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

11.8

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

4.0

—

(36306090) Helicobacter pylori [Presence] in Tissue by Organism specific culture

0.00

0.0

1.0

—

(4211845)

0.00

0.0

1.8

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

0.0

4.0

—

(3037556) Urate [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.4

—

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

0.00

0.0

1.3

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.3

—

(40771527) Human papilloma virus E6+E7 mRNA [Presence] in Cervix by NAA with probe detection

0.00

0.0

1.7

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

1.6

—

65.4

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

0.00

0.0

1.2

—

(3034988) Calcium [Moles/volume] in Capillary blood

0.00

0.0

1.3

—

1.2

—

(3022621) pH of Urine by Test strip

1.01

0.00

3.4

2.2

—

(4010399)

0.94

0.00

2.5

1.5

—

(3000034) Microalbumin [Mass/volume] in Urine

0.00

0.0

5.3

—

38.9

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.1

—

(40761535) Cells panel - Urine sediment

1.00

0.00

8.9

3.2

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

(42528593) TIF1-gamma Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(40759883) Oligoclonal Bands IgG [Presence] in Cerebral spinal fluid by Isoelectric focusing

0.00

0.0

1.0

—

(40763082) Lactate dehydrogenase [Enzymatic activity/volume] in Pleural fluid by Lactate to pyruvate reaction

0.00

0.0

1.1

—

214.3

—

(4027681)

0.00

0.0

1.1

—

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

0.00

0.0

1.4

—

75.5

—

(3009306) Alpha-1-Fetoprotein [Mass/volume] in Serum or Plasma

0.00

0.0

3.3

—

(3013637) Mi-2 Ab [Presence] in Serum

0.00

0.0

1.0

—

(3024474) Albumin [Mass/volume] in Cerebral spinal fluid

0.00

0.0

1.1

—

248.3

—

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

0.00

0.0

1.0

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.1

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

0.00

0.0

5.0

—

1.2

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.2

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.1

—

(3036535) Thyroglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

4.2

—

(42529582) MDA5 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(4198724)

0.00

0.0

1.1

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.1

—

(3024263) Appearance of Synovial fluid

0.00

0.0

1.3

—

(42529598) SUMO-activating enzyme subunit 1 Ab [Presence] in Serum by Line blot

0.00

0.0

1.0

—

(3002109) Cholesterol in LDL/Cholesterol in HDL [Mass Ratio] in Serum or Plasma

0.93

0.00

1.7

1.8

—

(44806071)

0.00

0.0

1.2

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.1

—

(3051593) INR in Capillary blood by Coagulation assay

0.00

0.0

4.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_QUALIPATELETDEF and mortality.

Females

Parameter	HR [95% CI]	p-value
D3_QUALIPATELETDEF	2.075 [1.4, 3.07]	< 0.001
Birth year	0.995 [0.99, 1.0]	0.246

During the follow-up period (1.1.1998 — 31.12.2019), 91 out of 401 females with D3_QUALIPATELETDEF died.

Males

Parameter	HR [95% CI]	p-value
D3_QUALIPATELETDEF	2.304 [1.61, 3.31]	< 0.001
Birth year	0.988 [0.98, 1.0]	0.01

During the follow-up period (1.1.1998 — 31.12.2019), 98 out of 278 males with D3_QUALIPATELETDEF died.

Mortality risk

Mortality risk for people of age

years, who have D3_QUALIPATELETDEF.

N-year risk	Females	Males
1	0.184%	0.492%
5	1.265%	2.769%
10	3.326%	6.831%
15	6.02%	12.131%
20	9.835%	20.27%

Relationships between endpoints

↥

Index endpoint: D3_QUALIPATELETDEF – Qualitative platelet defects

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

Qualitative platelet defects

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