Hereditary factor VIII deficiency

D3_HEREDFVIIIDEF

obsolete_factor VIII deficiency: An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.

Suggest a new description

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 — D66 Hospital discharge: ICD-9 — 2860 Hospital discharge: ICD-8 — 2860 Cause of death: ICD-10 — D66 Cause of death: ICD-9 — 2860 Cause of death: ICD-8 — 2860 2 out of 7 registries used, show all original rules.	99
4. Check minimum number of events None	99
5. Include endpoints None	99
6. Filter based on genotype QC (FinnGen only)	99

Control definitions (FinnGen only)

Control exclude: D3_COAGDEF_PURPUR_HAEMORRHAGIC

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: D65-D69
Name in latin: Deficientia hereditaria factoris VIII

NAME	D3_HEREDFVIIIDEF
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	D66
HD_ICD_9	2860
HD_ICD_8	2860
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D66
COD_ICD_9	2860
COD_ICD_8	2860
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 Hereditary factor VIII deficiency 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	723	205	511
Only index persons	586	187	399
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.02
Median age at first event (years)
Whole population	19.22	36.79	11.69
Only index persons	19.32	35.25	11.86

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	99	40	59
Unadjusted period prevalence (%)	0.02	0.01	0.03
Median age at first event (years)	23.18	34.20	15.71

-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
91: Matched controls
909

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

D66

ICD-10 Finland

Hereditary factor VIII deficiency

+∞

106.1

126

Kela drug reimbursment

Chronic coagulation defects

+∞

45.7

B02AA02

ATC

tranexamic acid; systemic

29.8

38.1

B02BD02

ATC

coagulation factor VIII; parenteral, topical, urethral

+∞

34.6

2860A

ICD-9 Finland

Coagulation defects, Congenital factor VIII disorder

+∞

22.9

28600

ICD-8 Finland

Coagulation defects, Haemophilia

+∞

19.5

M362, D66

ICD-10 Finland

+∞

19.5

M36.2

ICD-10 Finland

Haemophilic arthropathy

+∞

13.9

D68.0

ICD-10 Finland

Von Willebrand disease

+∞

12.8

B18.2

ICD-10 Finland

Chronic viral hepatitis C

54.4

12.3

NH1AA

NOMESCO Finland

Ankle X-ray examination without contrast

10.2

11.5

ZX120

NOMESCO Finland

Intravenous

8.2

11.2

M01AE01

ATC

ibuprofen; systemic, rectal

0.2

10.4

692

NC1AA

NOMESCO Finland

Elbow X-ray examination without contrast

23.2

10.2

NK6QA

NOMESCO Finland

Measurement of bone density from tow or more locations with X-ray

10.6

9.9

TPH90

NOMESCO Finland

Removal of fixed intravenous catheter

24.9

9.7

D68.8

ICD-10 Finland

Other specified coagulation defects

+∞

9.5

TPX10

NOMESCO Finland

Implantation of vascular injection port

21.3

9.2

R04.0

ICD-10 Finland

Epistaxis

9.5

8.9

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

+∞

7.4

T81.0

ICD-10 Finland

Haemorrhage and haematoma complicating a procedure, not elsewhere classified

7.9

6.8

Z31.5

ICD-10 Finland

Genetic counselling

7.6

6.7

D67

ICD-10 Finland

Hereditary factor IX deficiency

+∞

6.3

D68.9

ICD-10 Finland

Coagulation defect, unspecified

+∞

6.3

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3016407) Fibrinogen [Mass/volume] in Platelet poor plasma by Coagulation assay

26.19

47.86

9.8

8.3

g/l

3.0

3.3

0.50

(3018677) aPTT in Platelet poor plasma by Coagulation assay

11.64

34.78

9.6

4.6

36.6

30.2

3.89

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

143

5.35

15.32

8.0

2.5

mg/l

0.8

0.13

115

(40761593) Coagulation factor VIII Ab [Presence] in Platelet poor plasma by Immunoassay

+∞

14.96

2.5

0.0

—

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

+∞

11.68

1.9

0.0

—

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

23.49

11.57

2.3

3.0

112.6

102.4

—

(3009041) Cardiolipin IgG Ab [Units/volume] in Serum by Immunoassay

10.03

11.40

1.2

u/ml

4.4

4.7

—

(4268621)

12.28

11.28

2.6

1.9

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

9.83

10.47

1.2

u/ml

1.8

1.1

—

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

282

3.70

9.39

9.7

5.2

g/l

38.1

36.6

1.21

272

(3006315) Basophils [#/volume] in Blood

376

3.94

9.27

7.1

7.7

e9/l

0.0

0.37

334

(3001604) Monocytes [#/volume] in Blood

377

3.92

9.21

7.1

7.7

e9/l

0.5

0.6

0.29

334

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

146

3.76

8.94

5.3

2.1

mg/l

2.9

0.02

133

(3019198) Lymphocytes [#/volume] in Blood

387

3.76

8.63

7.1

7.8

e9/l

2.0

1.9

0.24

347

(3013115) Eosinophils [#/volume] in Blood

387

3.76

8.63

7.6

8.3

e9/l

0.2

0.02

348

(42870588) Differential panel, method unspecified - Blood

237

3.38

8.21

7.2

7.9

—

(3021589) Normoblasts [#/volume] in Blood

342

3.46

8.17

9.3

9.7

e9/l

0.0

0.49

280

(4306422)

9.16

7.72

1.2

1.1

—

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

322

3.19

7.35

8.0

8.1

mmol/l

1.2

0.09

277

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

286

2.95

6.56

7.0

8.4

mmol/l

1.2

0.13

258

(3018418) pH of Serum or Plasma

187

3.04

6.52

4.9

3.1

7.4

0.20

(3023520) Reticulocytes [#/volume] in Blood

4.57

6.48

4.4

3.2

e9/l

71.2

61.5

—

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

7.30

6.44

1.2

1.0

—

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

448

3.07

6.07

10.1

11.4

e9/l

3.9

4.0

0.07

392

(3052851) Hemolysis interference index of Serum or Plasma

6.43

5.75

1.8

3.5

—

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

3.90

5.30

2.1

3.2

mmol/l

1.2

0.02

(3049242) von Willebrand panel - Platelet poor plasma

+∞

5.25

2.4

0.0

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

4.83

4.69

1.8

1.4

g/l

0.2

0.13

(3032080) INR in Blood by Coagulation assay

240

2.50

4.66

10.4

5.7

inr

1.2

1.1

0.01

(40758558) Short blood count panel - Blood

187

2.56

4.59

8.8

7.9

—

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

369

2.38

4.26

9.7

7.0

umol/l

10.2

11.5

0.76

356

(3000093) Morphology [Interpretation] in Blood Narrative

8.58

4.14

1.0

—

(3000620) Complement C3 [Mass/volume] in Serum or Plasma

4.29

4.10

1.8

1.4

g/l

1.0

1.1

0.66

(40760892) CBC W Ordered Manual Differential panel - Blood

190

2.30

3.59

4.2

6.1

—

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

6.58

3.58

2.4

3.8

e9/l

4.3

4.2

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

6.58

3.58

2.5

3.8

58.4

56.8

—

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

7.43

3.42

1.1

1.0

—

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

7.43

3.42

1.1

1.0

—

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

158

2.29

3.27

5.8

2.3

—

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

342

2.01

2.93

6.6

4.2

—

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

5.70

2.92

1.4

2.4

—

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

113

2.22

2.50

1.5

—

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

2.46

2.31

1.5

—

(3023368) Bacteria identified in Blood by Culture

165

1.97

2.22

4.2

4.1

—

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

250

1.84

2.17

6.5

3.1

—

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

152

1.96

2.10

1.5

1.6

—

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

3.25

2.06

1.1

1.3

—

(3034770) Mitochondria Ab [Titer] in Serum

3.34

1.92

1.4

—

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

801

2.36

1.88

18.8

11.6

mg/l

21.9

21.6

0.02

612

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

3.69

1.87

2.0

2.5

mg/l

7.2

9.7

—

(40761511) CBC panel - Blood by Automated count

849

2.57

1.69

19.7

10.0

—

(36304419) Bacteria [Presence] in Urine

205

1.75

1.68

4.8

2.4

—

(3042936) Bacteria identified in Isolate by Culture

2.05

1.66

1.7

2.5

—

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

3.12

1.60

1.2

1.3

—

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

722

1.93

1.60

17.9

9.9

ml/min/173m2

94.5

89.7

1.10

582

(3025271) CD3-CD16+CD56+ (Natural killer) cells [#/volume] in Blood

3.45

1.54

1.6

2.3

e9/l

0.2

0.1

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

796

2.17

1.53

20.2

13.0

mmol/l

139.9

139.7

0.48

773

(3007853) Bacteria identified in Skin by Aerobe culture

1.98

1.52

1.4

—

(3000492) Spirometry study

2.04

1.48

1.8

1.5

—

(3023103) Potassium [Moles/volume] in Serum or Plasma

799

2.13

1.46

20.5

13.0

mmol/l

4.0

0.28

775

(3001405) CD3+CD8+ (T8 suppressor) cells [#/volume] in Blood

3.23

1.45

1.6

2.3

e6/l

340.0

615.5

—

(40761535) Cells panel - Urine sediment

2.31

1.45

8.5

3.5

—

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

2.71

1.39

1.5

2.1

—

(3044640) Blood type and Crossmatch panel - Blood

220

1.60

1.26

7.3

2.3

—

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

223

1.57

1.19

1.7

1.4

—

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

2.45

1.10

1.8

1.7

—

(40761536) Microorganisms panel - Urine sediment

1.90

1.03

6.1

2.8

—

(3013512) EKG study

180

0.56

0.98

3.7

3.4

—

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

119

1.63

0.96

1.4

1.2

u/ml

37.9

2.5

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.21

0.93

3.5

18.0

95.7

93.8

—

(3019225) pH of Specimen

1.87

0.91

9.6

3.5

—

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

147

1.54

0.90

2.0

3.4

—

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

191

1.49

0.89

1.3

1.4

u/ml

0.7

0.8

—

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

219

1.46

0.87

2.6

2.9

u/l

48.4

56.3

1.50

209

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

1.99

0.86

1.5

1.4

—

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

175

1.49

0.85

1.9

1.5

g/l

1.6

2.2

1.44

117

(3018095) Leukocytes [#/volume] in Urine

267

1.42

0.83

5.0

3.4

e6/l

81.3

34.7

0.49

190

(3004588) Protein electrophoresis panel - Serum or Plasma

1.81

0.77

1.5

1.2

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

2.23

0.77

1.0

2.4

ug/l

77.2

260.9

—

(4035726)

1.70

0.76

1.9

1.5

—

(3025941) Bacteria identified in Stool by Culture

1.90

0.75

1.1

1.2

—

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

1.85

0.74

2.4

1.6

—

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

2.05

0.74

3.4

18.3

mmol/l

23.8

24.4

—

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

1.61

0.73

14.0

8.4

mmol/l

1.1

0.13

(21494755) Public health laboratory ask at order entry panel

127

0.60

0.70

1.4

1.3

—

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

1.83

0.67

1.8

1.3

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.76

0.64

2.2

1.9

—

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

194

1.39

0.64

1.6

—

(1761868) Lipid panel - Serum or Plasma

323

0.74

0.62

1.7

2.5

—

(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

1.70

0.62

1.4

1.3

—

(3051387) C reactive protein [Mass/volume] in Capillary blood

0.00

0.61

0.0

5.0

—

25.8

—

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

1.55

0.60

3.2

2.0

nmol/l

322.9

368.6

0.36

(40768797) Stomach Pathology biopsy report

1.57

0.59

1.1

1.3

—

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

1.58

0.57

3.3

2.5

—

(36660697) Celiac disease serology panel - Serum

1.52

0.55

1.2

—

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

190

1.35

0.55

3.5

3.4

estimate

0.0

0.49

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

1.47

0.54

4.9

7.3

—

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

460

1.27

0.53

5.9

4.0

—

38.1

—

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

1.42

0.52

2.6

2.3

u/l

32.1

27.4

—

(3000991) Gas panel - Venous blood

1.55

0.52

6.1

12.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

523

1.26

0.49

6.0

3.9

—

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

0.63

0.45

1.3

1.6

—

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

243

1.27

0.45

2.2

1.8

pmol/l

98.4

94.0

0.23

123

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

1.59

0.43

1.2

1.1

—

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

0.00

0.41

0.0

14.7

—

1424.9

—

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

0.00

0.41

0.0

12.7

—

793.9

—

(40768793) Breast Pathology biopsy report

0.00

0.41

0.0

1.2

—

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

0.00

0.40

0.0

1.3

—

8.1

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.33

0.38

17.2

18.2

—

1.3

—

(3044889) 12 lead EKG panel

506

1.20

0.34

2.8

3.2

—

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

729

0.82

0.33

3.9

3.7

mmol/l

6.4

5.9

1.13

677

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

129

1.29

0.33

1.3

1.2

iu/ml

11.2

14.5

—

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

196

1.23

0.30

1.7

1.9

—

(3009542) Hematocrit [Volume Fraction] of Blood

767

1.22

0.28

26.6

12.8

40.5

41.1

0.31

624

(3022145) Colonoscopy Study observation

1.25

0.28

2.4

1.5

—

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

0.66

0.27

1.8

2.1

—

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

1.33

0.23

2.4

1.6

nmol/l

26.8

33.6

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.21

0.0

3.4

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.21

0.0

1.2

—

(3006588) Cancer Ag 15-3 [Units/volume] in Serum or Plasma

0.00

0.21

0.0

3.8

—

80.6

—

(4198724)

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.6

—

7.5

—

(3012516) Albumin [Mass/volume] in Urine

184

1.18

0.21

3.3

mg/l

109.7

62.8

0.32

117

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

0.00

0.21

0.0

2.7

—

6.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

217

0.85

0.21

3.7

2.5

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.6

—

1.4

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

1.27

0.20

1.5

iu/l

33.9

15.4

—

(4010399)

1.25

0.19

1.1

1.5

—

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

362

1.13

0.18

2.9

3.0

estimate

0.0

0.00

(3027946) Carbon dioxide [Partial pressure] in Arterial blood

1.14

0.17

3.1

18.6

kpa

5.0

5.1

—

(3015736) pH of Urine

275

1.13

0.17

2.3

3.0

—

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

192

0.86

0.16

3.2

3.7

23.8

21.6

—

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

140

1.17

0.16

1.3

2.0

—

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

150

1.16

0.16

1.4

2.2

—

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

283

0.89

0.15

3.3

3.0

—

(40768804) Tissue Pathology biopsy report

283

0.89

0.15

2.9

1.8

—

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

118

0.83

0.15

1.2

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

106

0.83

0.14

1.4

1.8

—

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

368

1.10

0.13

2.9

3.0

estimate

0.0

0.00

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

241

1.11

0.12

3.4

3.1

ng/l

19.6

35.1

0.50

143

(3008898) HLA-B27 [Presence]

1.17

0.10

1.0

—

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

1.14

0.10

9.2

9.4

mmol/l

22.1

24.6

—

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

1.12

0.10

2.6

1.4

—

(3002256) Pathology report gross observation

1.17

0.10

1.3

1.1

—

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

1.09

0.10

1.2

1.4

—

(3020682) Albumin/Creatinine [Ratio] in Urine

195

1.10

0.09

3.9

4.2

mg/mmol

22.2

8.2

0.52

123

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.84

0.08

6.8

3.8

30.2

30.0

—

(3000494) Fungus identified in Specimen by Culture

1.02

0.07

1.7

1.6

—

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

110

0.90

0.05

2.3

1.4

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

130

1.09

0.05

1.6

1.5

—

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

640

0.96

0.03

3.8

3.4

—

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

362

1.04

0.02

3.8

4.1

estimate

0.0

0.00

(3026008) Bacteria identified in Urine by Culture

177

1.02

0.00

4.2

2.8

—

(3011648) Oxygen content in Venous blood

0.00

0.0

10.6

—

11.9

—

(3022493) Free Hemoglobin [Mass/volume] in Plasma

0.00

0.0

2.4

—

169.1

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.1

—

1.5

—

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

0.00

0.0

1.0

—

(43055361) Metamyelocytes/Leukocytes [Pure number fraction] in Blood by Manual count

0.00

0.0

3.4

—

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

0.00

0.0

1.0

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

0.0

1.4

—

4.3

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

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

0.89

0.00

2.7

1.4

—

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

0.00

0.0

1.0

—

29.5

—

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

0.00

0.0

2.9

—

4.1

—

(4027681)

0.00

0.0

1.3

—

(3012544) pH of Venous blood

0.96

0.00

6.4

6.9

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

3.3

—

65.4

—

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

0.84

0.00

1.2

1.9

—

(3045462) Protein/Creatinine [Ratio] in Urine

0.00

0.0

4.3

—

13.8

—

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

0.90

0.00

1.4

1.9

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.0

1.2

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

0.0

2.3

—

43.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

0.0

9.1

—

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

0.00

0.0

1.6

—

8.6

—

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

0.00

0.0

1.0

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.93

0.00

2.4

1.3

—

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

0.00

0.0

2.9

—

107.1

—

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

0.00

0.0

2.9

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.0

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.6

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

170.5

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3038546) Human coronavirus OC43 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

1.2

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

15.4

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

7.8

—

35.8

—

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

0.00

-0.00

0.0

1.4

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

-0.00

0.0

1.6

—

(42870365) C reactive protein [Mass/volume] in Blood by High sensitivity method

0.00

-0.00

0.0

2.8

—

(3040359) Human coronavirus NL63 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3041642) Human coronavirus 229E RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint D3_HEREDFVIIIDEF and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_HEREDFVIIIDEF.

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_HEREDFVIIIDEF – Hereditary factor VIII deficiency

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

Hereditary factor VIII deficiency

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