Abnormal pulmonary venous return

Q17_APVR

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q21.12, Q26.2, Q26.3, Q26.4 Hospital discharge: ICD-9 — 7456X\|7474[A-C] Hospital discharge: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Hospital discharge: excluded ICD-9 — 758\|7595\|75683 Cause of death: ICD-10 — Q21.12, Q26.2, Q26.3, Q26.4 Cause of death: ICD-9 — 7456X\|7474[A-C] Cause of death: excluded ICD-10 — Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875 Cause of death: excluded ICD-9 — 758\|7595\|75683 2 out of 7 registries used, show all original rules.	89
4. Check minimum number of events None	89
5. Include endpoints None	89
6. Filter based on genotype QC (FinnGen only)	89

Control definitions (FinnGen only)

Controls for this endpoint are individuals that are not cases.

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF7

NAME	Q17_APVR
CONTROL_EXCLUDE
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q2112\|Q262\|Q263\|Q264
HD_ICD_9	7456X\|7474[A-C]
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
HD_ICD_9_EXCL	758\|7595\|75683
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q2112\|Q262\|Q263\|Q264
COD_ICD_9	7456X\|7474[A-C]
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL	Q90\|Q91\|Q92\|Q93\|Q96\|Q8780\|Q8781\|Q8782\|Q8783\|Q8784\|Q8786\|Q8788\|Q85\|Q796\|Q874\|Q875
COD_ICD_9_EXCL	758\|7595\|75683
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 Abnormal pulmonary venous return 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	865	457	402
Only index persons	602	325	277
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	7.21	8.79	4.99
Only index persons	15.24	17.51	12.58

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	89	46	43
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	24.44	33.22	15.06

-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
77: Matched controls
771

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q26.3

ICD-10 Finland

Partial anomalous pulmonary venous connection

+∞

41.4

Q21.12

ICD-10 Finland

Defective sinus venosus

+∞

36.4

FM1BE

NOMESCO Finland

Cardiac ultrasound examination through oesophagus

21.2

25.3

FXA00

NOMESCO Finland

Total cardiopulmonary bypass in normothermia or moderate hypothermia at concurrent surgical procedure

17.1

18.8

FM1AE

NOMESCO Finland

Standard cardiac ultrasound examination

10.2

15.5

FM1EE

NOMESCO Finland

Extensive structural and functional ultrasound examination of heart

7.3

14.2

113

Q21.10

ICD-10 Finland

Persistent ostium secundum

11.9

10.9

XF400

NOMESCO Finland

ECG with 12 standard connections

5.6

10.7

113

Catheterization and pressure measurement of the right side of the heart

+∞

10.7

TPH15

NOMESCO Finland

Insertion of central venous catheter through external or internal jugular vein

7.3

10.2

GD1AA

NOMESCO Finland

Thorax X-ray examination

4.4

8.8

218

TPH07

NOMESCO Finland

Cathetrisation of artery

6.0

8.8

Congenital heart failure surgery

100.6

8.6

C03DA01

ATC

spironolactone; oral

8.4

8.2

Q21.19

ICD-10 Finland

Atrial septal defect NOS

28.3

7.8

B01AA03

ATC

warfarin; systemic

5.7

7.7

Q26.1

ICD-10 Finland

Persistent left superior vena cava

88.2

7.6

C03CA01

ATC

furosemide; systemic

5.0

7.5

7474A

ICD-9 Finland

Other congenital anomalies of circulatory system, Anomalies of great veins[MALEFORMATIONES VENAE PULMONALIS]

+∞

7.4

XF620

NOMESCO Finland

Examination of circulation with color method

+∞

7.4

XF622

NOMESCO Finland

Measurement of minute volume of heart

+∞

7.4

WX872

NOMESCO Finland

Intensive care

22.6

7.3

I50.9

ICD-10 Finland

Heart failure, unspecified

9.2

7.0

TFC00

NOMESCO Finland

Catheterisation of right atrium or ventricle

44.1

6.9

FM1DG

NOMESCO Finland

Very extensive MRI examination of heart with high intesity magnet

25.1

6.8

FFC96

NOMESCO Finland

Other closure of isolated atrial septal defect

75.9

6.5

Catheterization and pressure measurement of the left side of the heart

20.1

6.4

FFF96

NOMESCO Finland

Other operation for partially anomalous pulmonary veins

+∞

6.3

FFG96

NOMESCO Finland

Other correction of total anomalous pulmonary vein drainage

+∞

6.3

XF402

NOMESCO Finland

ECG with work load test

6.9

6.2

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

8.58

17.43

4.4

7.5

85.70

89.77

0.32

(3032080) INR in Blood by Coagulation assay

225

4.35

10.72

13.2

6.7

1.26

1.17

inr

—

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

166

3.73

8.45

2.8

3.3

—

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

285

3.60

7.96

3.7

4.3

—

(3044640) Blood type and Crossmatch panel - Blood

202

3.48

7.78

3.2

3.3

—

(3020427) Coagulation factor X inhibitor [Units/volume] in Platelet poor plasma by Coagulation assay

6.50

5.76

9.2

6.1

0.30

0.35

u/ml

—

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

10.95

5.15

5.1

2.4

93.56

87.11

—

(3000991) Gas panel - Venous blood

142

2.82

4.78

14.3

7.8

—

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

4.88

4.71

17.4

9.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

4.06

4.39

5.4

7.4

176.77

167.69

0.16

(3022313) Gas panel - Capillary blood

120

2.79

4.36

17.2

9.4

—

(3019230) Fractional oxyhemoglobin in Venous blood

7.01

4.09

2.6

23.4

78.71

73.11

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

3.73

3.93

13.5

7.8

0.98

1.39

1.41

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

3.73

3.93

13.5

7.8

0.75

0.64

0.72

(3024928) Oxygen saturation in Venous blood

6.12

3.76

2.1

21.2

—

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

144

2.50

3.71

11.5

10.2

1.30

mmol/l

0.01

138

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

191

2.37

3.64

1.4

—

(3009343) pH of Capillary blood

137

2.39

3.25

16.9

9.6

—

7.41

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

3.31

3.10

2.2

11.0

1.06

1.28

0.44

(3044889) 12 lead EKG panel

386

2.01

2.59

3.9

3.4

—

(3030366) Cystatin C [Mass/volume] in Serum or Plasma

2.76

2.49

14.1

19.1

1.10

1.06

mg/l

0.17

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

147

2.09

2.36

24.2

11.8

25.27

24.84

mmol/l

0.42

147

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

730

3.03

2.33

19.7

14.9

68.94

66.56

umol/l

0.32

730

(40761511) CBC panel - Blood by Automated count

755

3.00

1.97

19.2

11.8

—

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

342

1.79

1.94

8.7

7.8

17.62

19.36

umol/l

0.23

321

(3007853) Bacteria identified in Skin by Aerobe culture

2.12

1.92

2.4

1.6

—

(3000494) Fungus identified in Specimen by Culture

2.17

1.77

1.7

1.4

—

(3044290) Cell count panel - Cerebral spinal fluid

3.08

1.76

1.0

5.8

—

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

222

1.77

1.74

6.6

4.3

41.58

34.55

u/l

0.36

212

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

719

2.11

1.50

27.5

15.8

139.37

139.43

mmol/l

0.09

701

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

757

2.43

1.43

20.1

13.4

21.76

22.21

mg/l

0.04

542

(3034274) Bile acid [Moles/volume] in Serum --fasting

2.72

1.39

6.5

4.6

41.25

8.04

umol/l

—

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

721

2.08

1.37

27.4

15.8

4.04

3.97

mmol/l

1.50

701

(3019060) Gas panel - Arterial blood

2.41

1.31

6.5

3.3

—

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

2.88

1.30

3.2

1.6

—

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

2.88

1.30

1.0

1.7

—

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

2.17

1.27

2.4

3.5

—

(4034850)

2.59

1.16

7.6

11.2

—

(3004588) Protein electrophoresis panel - Serum or Plasma

2.36

1.13

1.1

2.3

—

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

115

1.71

1.10

1.7

2.1

—

(3002385) Erythrocyte distribution width [Ratio]

671

1.75

1.09

27.1

17.4

13.69

13.49

0.59

666

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

220

1.55

1.07

4.1

4.0

72.33

26.00

ng/l

0.56

137

(3008909) Norovirus RNA [Presence] in Stool by NAA with probe detection

2.35

1.04

1.6

1.5

—

(3034770) Mitochondria Ab [Titer] in Serum

2.35

1.04

1.0

1.5

—

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

1.72

0.94

1.6

1.9

—

(3005322) IgE [Units/volume] in Serum or Plasma

1.77

0.90

1.2

1.3

94.58

332.43

u/ml

0.84

(3000492) Spirometry study

1.85

0.88

1.2

1.5

—

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

1.68

0.87

1.5

1.8

—

(3042936) Bacteria identified in Isolate by Culture

1.71

0.87

2.8

1.9

—

(36660697) Celiac disease serology panel - Serum

123

0.53

0.86

1.1

1.3

—

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

0.00

0.80

0.0

1.2

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.80

0.0

1.6

—

(3012516) Albumin [Mass/volume] in Urine

134

1.53

0.80

3.8

3.4

12.61

72.81

mg/l

0.85

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

1.72

0.70

3.7

1.9

—

(3052851) Hemolysis interference index of Serum or Plasma

1.83

0.67

6.4

3.8

—

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

1.83

0.67

1.6

2.7

—

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

1.77

0.65

1.0

1.9

—

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

1.71

0.62

1.0

2.0

—

(4010399)

1.59

0.61

1.0

1.5

—

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

236

0.70

0.61

3.2

3.7

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.61

0.0

1.8

—

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

0.00

0.61

0.0

1.2

—

1.09

—

(40766183) Gliadin peptide IgA Ab [Units/volume] in Serum by Immunoassay

0.00

0.61

0.0

1.1

—

0.90

—

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

498

1.34

0.60

16.7

12.6

82.16

86.47

ml/min/173m2

0.53

383

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.60

0.0

1.1

—

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

0.00

0.59

0.0

1.3

—

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

1.76

0.59

2.8

1.4

—

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

1.76

0.59

2.8

1.4

—

(3022145) Colonoscopy Study observation

1.45

0.53

1.8

1.3

—

(3037121) Protein [Mass/volume] in Urine

1.54

0.52

6.3

7.6

0.14

0.39

g/l

—

(3002179) Metamyelocytes/100 leukocytes in Blood

1.60

0.50

3.4

5.2

—

0.60

—

(3021440) Promyelocytes/100 leukocytes in Blood

1.57

0.49

3.4

5.9

—

0.12

—

(3022217) INR in Platelet poor plasma by Coagulation assay

1.43

0.46

64.9

20.9

—

1.43

—

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

236

0.75

0.45

2.2

2.1

—

(3023368) Bacteria identified in Blood by Culture

159

1.33

0.45

6.5

5.1

—

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

1.65

0.44

1.6

1.3

—

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

568

0.80

0.43

5.0

4.2

6.00

5.79

mmol/l

0.50

518

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

401

1.25

0.42

6.0

4.1

53.02

42.78

u/l

0.49

378

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

0.00

0.41

0.0

1.3

—

(40768804) Tissue Pathology biopsy report

233

0.77

0.41

2.2

1.8

—

(4062490)

0.00

0.41

0.0

1.2

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

0.00

0.41

0.0

1.1

—

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

0.00

0.41

0.0

1.4

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.41

0.0

1.4

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.41

0.0

13.8

—

(4094501)

0.00

0.41

0.0

1.1

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.41

0.0

1.6

—

(40767503) Oxygen content in Capillary blood by calculation

0.00

0.41

0.0

3.2

—

16.54

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.40

0.0

1.6

—

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

0.00

0.40

0.0

1.7

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

1.34

0.38

2.7

1.9

1.50

1.47

—

(3041096) Erythrocytes [Presence] in Urine by Automated

156

0.73

0.38

2.8

3.6

—

(40760892) CBC W Ordered Manual Differential panel - Blood

145

1.30

0.37

2.4

5.0

—

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

1.46

0.36

1.2

1.5

—

(3026008) Bacteria identified in Urine by Culture

175

1.26

0.34

5.6

2.8

—

(3025159) Blasts/100 leukocytes in Blood

1.33

0.34

3.8

5.8

—

0.00

—

(3017181) Myelocytes/100 leukocytes in Blood

1.40

0.32

3.4

5.5

—

0.58

—

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

139

1.28

0.32

1.3

1.8

—

(42870588) Differential panel, method unspecified - Blood

329

0.82

0.32

9.9

9.1

—

(3013512) EKG study

149

1.26

0.31

3.8

4.3

—

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

1.28

0.27

3.9

6.6

—

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

179

0.81

0.26

5.3

3.4

—

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

261

0.84

0.24

1.4

1.8

2.08

1.97

g/l

0.14

127

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

1.27

0.24

1.5

—

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

1.33

0.23

1.4

1.7

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

1.33

0.23

1.2

1.1

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.21

0.0

1.2

—

(3049717) Cytology report of Urine Cyto stain

0.00

0.21

0.0

3.2

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

140.66

—

(3028433) Virus identified in Specimen by Culture

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

3.5

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

3.1

—

84.45

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.3

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

3.3

—

66.73

—

(43534046) Estradiol (E2) [Moles/volume] in Serum or Plasma by High sensitivity method

0.00

0.21

0.0

2.3

—

0.28

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.3

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.21

0.0

1.8

—

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

1.30

0.21

2.8

1.3

—

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

1.25

0.21

1.2

2.02

7.50

u/ml

—

(21494434) Karyotype in Bone marrow

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.0

—

(40758895) Direct antiglobulin test.complement C3d specific reagent [Presence] on Red Blood Cells

0.00

0.21

0.0

4.3

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

2.0

—

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

0.00

0.21

0.0

1.4

—

(40758897) Direct antiglobulin test.IgG specific reagent [Presence] on Red Blood Cells

0.00

0.21

0.0

4.3

—

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

0.00

0.21

0.0

2.0

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.20

0.0

2.5

—

1.40

—

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

0.00

0.20

0.0

1.8

—

(3019225) pH of Specimen

1.21

0.20

3.2

7.6

—

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

1.20

0.18

1.1

1.7

—

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

1.14

0.18

1.9

3.1

22.43

35.71

u/l

—

(3009542) Hematocrit [Volume Fraction] of Blood

731

0.86

0.16

30.5

15.6

38.16

39.33

1.00

601

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

0.76

0.16

1.3

2.0

—

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

0.79

0.15

1.4

2.1

—

(3013707) Erythrocyte sedimentation rate by Westergren method

523

0.90

0.14

4.6

4.3

10.52

10.77

mm/h

0.05

478

(40758558) Short blood count panel - Blood

261

0.89

0.14

11.8

8.9

—

(3019150) Specific gravity of Urine by Refractometry

148

0.86

0.13

3.4

3.9

—

1.02

—

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

201

1.13

0.13

2.2

1.7

93.97

98.92

pmol/l

0.18

103

(3021960) Folate [Moles/volume] in Serum or Plasma

116

0.84

0.12

2.2

1.5

22.59

21.53

nmol/l

—

101

(36304419) Bacteria [Presence] in Urine

229

0.89

0.12

10.4

3.2

—

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

1.14

0.10

1.0

1.3

—

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

1.07

0.09

1.4

1.7

—

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

1.04

0.09

1.6

1.3

—

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

1.08

0.09

1.8

1.5

—

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

284

1.08

0.09

12.0

7.0

35.53

36.40

g/l

0.37

272

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

274

0.93

0.07

8.8

3.7

—

(40768797) Stomach Pathology biopsy report

1.03

0.07

1.6

1.3

—

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

273

0.93

0.06

1.6

1.7

0.60

2.67

u/ml

—

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

151

0.91

0.05

8.2

2.9

0.71

0.56

e6/l

—

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

581

1.05

0.03

4.2

3.9

—

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

122

1.08

0.03

1.5

1.7

—

(3015736) pH of Urine

258

0.96

0.02

4.2

3.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

473

1.03

0.01

6.8

4.1

—

(3009035) Cobalamin (Vitamin B12) [Moles/volume] in Serum or Plasma

104

1.07

0.01

2.7

1.8

357.45

440.42

pmol/l

0.86

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

164

1.05

0.00

7.2

3.0

4.18

5.06

e6/l

0.22

134

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

167

1.02

0.00

1.9

2.1

—

(1761868) Lipid panel - Serum or Plasma

199

1.01

0.00

2.9

—

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

0.00

0.0

1.0

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

0.0

2.9

—

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

0.0

1.3

—

18.83

—

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

0.00

0.0

2.9

—

(3029715) Chromosome analysis.interphase [Interpretation] in Bone marrow by FISH Narrative

0.00

0.0

1.4

—

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

0.00

0.0

2.7

—

(3042631) Mycobacterium sp identified in Specimen

0.00

0.0

1.9

—

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

0.00

0.0

2.9

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.3

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

1233.29

—

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

0.00

0.0

1.1

—

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

0.00

0.0

2.9

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.4

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

1.9

—

(3017115) Methotrexate [Moles/volume] in Serum or Plasma

0.00

0.0

21.4

—

0.56

—

(3010015) Selenium [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

1.18

—

(3000012) Reticulocyte production index

0.00

0.0

1.4

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.9

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.9

—

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

0.00

0.0

2.9

—

(40759040) C peptide [Moles/volume] in Serum or Plasma --post meal

0.00

0.0

1.3

—

1.58

—

(3040893) Potassium [Moles/volume] in Capillary blood

0.00

0.0

5.0

—

4.52

—

(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method

0.00

0.0

1.5

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

30.00

—

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

0.00

0.0

1.9

—

(3007821) Glucose [Moles/volume] in Serum or Plasma --baseline

0.00

0.0

1.0

—

6.00

—

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

0.88

0.00

1.1

1.4

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.3

—

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

0.00

0.0

9.6

—

760.60

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

(3009340) Metanephrine [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

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

0.00

0.0

2.0

—

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

0.00

0.0

3.0

—

(3038026) Centromere Ab [Units/volume] in Serum

0.00

0.0

1.4

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

3.0

—

(3049539) Genetic diseases [Identifier] in Blood or Tissue by FISH Nominal

0.00

0.0

1.3

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

1.2

—

(4198724)

0.00

0.0

2.2

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.0

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3016031) Almond IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

4.04

—

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

0.00

0.0

3.0

—

(3019083) Insulin-like growth factor [Moles/volume] in Serum or Plasma

0.00

0.0

3.6

—

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

0.00

0.0

2.0

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

0.0

9.6

—

(3036603) Volume of Urine

0.00

0.0

1.0

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.0

1.8

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.2

—

(4035726)

0.97

0.00

3.5

1.7

—

(3033882) Carnitine [Moles/volume] in Serum or Plasma

0.00

0.0

2.4

—

39.60

—

(3010503) CD19 cells [#/volume] in Blood

0.00

0.0

1.8

—

0.14

—

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

0.00

0.0

1.5

—

3.96

—

(40766800) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ T-cells [Units/volume] corrected for background in Blood

0.00

0.0

1.7

—

(40766048) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.4

—

(3014271) Vancomycin [Susceptibility]

0.00

0.0

1.8

—

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

0.00

0.0

13.6

—

1413.40

—

(3008536) Aspergillus sp Ab [Presence] in Serum

0.00

0.0

2.2

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

3.0

—

(3007695) Herpes simplex virus 2 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

0.0

1.2

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.0

1.2

—

(44813793)

0.00

0.0

1.0

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.2

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3001186) Copper [Moles/volume] in Serum or Plasma

0.00

0.0

2.0

—

19.78

—

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

0.00

0.0

3.0

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

0.0

1.3

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

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

0.87

0.00

1.2

—

(3031072) Herpes simplex virus 1 IgG Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(4146454)

0.00

0.0

1.7

—

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

0.00

0.0

2.8

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_APVR and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_APVR.

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: Q17_APVR – Abnormal pulmonary venous return

GWS hits: 1

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

Abnormal pulmonary venous return

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