Risteys · Q17_PEUTZ

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 — Q85.80 Cause of death: ICD-10 — Q85.80 2 out of 7 registries used, show all original rules.	14
4. Check minimum number of events None	14
5. Include endpoints None	14
6. Filter based on genotype QC (FinnGen only)	14

Summary Statistics

↥

-FinRegistry-

This endpoint is excluded (different definition than used in FinnGen).

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	14	-	10
Unadjusted period prevalence (%)	0.00	-	0.00
Median age at first event (years)	31.36	-	32.17

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

(3002256) Pathology report gross observation

25.53

5.21

1.9

1.0

—

(40768797) Stomach Pathology biopsy report

16.67

4.86

3.0

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

10.54

4.01

6.4

2.2

—

(3042936) Bacteria identified in Isolate by Culture

16.06

3.91

8.0

1.8

—

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

10.81

3.90

4.6

2.1

—

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

11.98

3.00

9.6

2.5

mmol/l

103.6

104.8

—

(3000991) Gas panel - Venous blood

10.23

2.79

2.8

2.1

—

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

8.91

2.60

1.4

2.1

mmol/l

21.0

24.5

—

(3033658) Prothrombin time (PT) actual/Normal

5.50

2.44

8.4

1.9

87.0

91.4

—

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

7.89

2.43

1.4

2.0

kpa

5.2

6.4

—

(3012544) pH of Venous blood

7.89

2.43

1.4

2.0

—

(3022145) Colonoscopy Study observation

5.81

2.01

1.4

1.3

—

(42870588) Differential panel, method unspecified - Blood

4.77

1.95

2.9

6.3

—

(3023368) Bacteria identified in Blood by Culture

4.19

1.73

10.8

2.9

—

(3002385) Erythrocyte distribution width [Ratio]

103

+∞

1.64

35.3

11.7

13.9

13.1

0.97

103

(40758558) Short blood count panel - Blood

3.12

1.20

8.8

5.1

—

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

3.09

1.17

9.9

4.8

umol/l

11.4

10.6

—

(3026782) Osmolality of Urine

2.95

1.14

1.6

1.7

mosm/kgh2o

534.4

559.6

—

(3002582) Erythrocytes [#/volume] in Urine

1.94

0.50

4.2

2.0

e6/l

13.4

77.4

—

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

1.73

0.46

4.0

2.1

—

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

100

0.54

0.45

4.4

3.9

—

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

0.00

0.43

0.0

1.6

—

(3000492) Spirometry study

0.00

0.43

0.0

1.3

—

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

0.00

0.43

0.0

2.1

—

(3018095) Leukocytes [#/volume] in Urine

1.60

0.28

5.4

2.4

e6/l

5.6

35.8

—

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

1.39

0.26

4.4

2.5

—

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

0.00

0.22

0.0

1.3

—

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

0.00

0.21

0.0

1.0

—

(3009201) Thyrotropin [Units/volume] in Serum or Plasma

0.75

0.12

4.9

4.0

mu/l

1.5

1.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

1.37

0.11

1.5

2.6

—

(1002224) Polysomnography panel

0.00

0.0

1.1

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

(3034780) Angiotensin converting enzyme [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

1.3

—

52.5

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.4

—

(3035941) MCH [Entitic mass]

132

+∞

0.00

39.5

13.1

29.7

30.0

0.21

132

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

0.00

0.0

2.4

—

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

0.00

0.0

3.0

—

37.0

—

(3024731) MCV [Entitic volume]

132

+∞

0.00

39.6

13.2

89.2

0.01

132

(3000963) Hemoglobin [Mass/volume] in Blood

132

+∞

0.00

39.8

13.2

g/l

133.4

142.8

1.01

132

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

0.00

0.0

1.0

—

(3009445) Proteinase 3 Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.6

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

0.00

0.0

1.2

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.0

1.3

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.2

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.0

2.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

0.3

—

(3020287) Protein C actual/normal in Platelet poor plasma by Coagulation assay

0.00

0.0

1.0

—

106.4

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.2

—

(3008486) Thyroxine (T4) free [Moles/volume] in Serum or Plasma

0.89

0.00

4.4

3.4

pmol/l

15.1

14.5

—

(3019225) pH of Specimen

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

1.1

—

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

0.00

0.0

1.0

—

68.1

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.6

—

Mortality – FinRegistry

↥

This endpoint is excluded (different definition than used in FinnGen).

Relationships between endpoints

↥

Index endpoint: Q17_PEUTZ_JEGHERS – Peutz-Jeghers syndrome

GWS hits: -

This endpoint is excluded (different definition than used in FinnGen).

NAME	Q17_PEUTZ_JEGHERS
CONTROL_EXCLUDE	Q17_OTHER_CONGEN_MALFO
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q8580
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q8580
COD_ICD_9
COD_ICD_8
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

≡ Risteys

FG R12 + FR

FinnGen R11 + FinRegistry

FinnGen R10 + FinRegistry

FinnGen R10

FinnGen R9

FinnGen R8

FinnGen R7

FinnGen R6

FinnGen R5

FinnGen R4

FinnGen R3

Peutz-Jeghers syndrome

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)

All original rules

Similar endpoints

Case counts by codes

Upset plot

Case counts by code for Peutz-Jeghers syndrome (Q17_PEUTZ_JEGHERS)

Summary Statistics

-FinRegistry-

-FinnGen-

Key figures

-FinnGen-

Age distribution of first events

-FinnGen-

Year distribution of first events

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Relationships between endpoints