Risteys · C3_RETINOBLAST

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 — C69.21&, C69.81&, C69.91& Cause of death: ICD-10 — C69.21&, C69.81&, C69.91& Cancer registry: Topography ICD-O-3 — C69 Cancer registry: Morphology ICD-O-3 — 951[0-4] Cancer registry: Behaviour codes — 3 3 out of 7 registries used, show all original rules.	30
4. Check minimum number of events None	30
5. Include endpoints None	30
6. Filter based on genotype QC (FinnGen only)	30

Summary Statistics

↥

-FinRegistry-

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

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	30	18	12
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	2.54	2.66	2.36

-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

cases

controls

unit

-log₁₀(p)

N cases

N controls

(42870588) Differential panel, method unspecified - Blood

5.96

4.89

17.2

6.3

—

(4035726)

17.58

4.83

1.9

1.2

—

(40768804) Tissue Pathology biopsy report

4.30

3.72

3.4

1.5

—

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

7.90

3.40

4.1

30.5

97.4

94.5

—

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

9.00

3.21

4.7

2.5

160.5

198.9

—

(3044640) Blood type and Crossmatch panel - Blood

3.90

3.18

7.4

3.7

—

(3033658) Prothrombin time (PT) actual/Normal

3.82

3.01

10.8

7.9

90.8

93.3

0.11

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

8.26

2.65

1.6

1.1

—

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

3.66

2.62

7.5

4.2

—

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

5.03

2.53

11.6

20.1

5.2

6.9

mmol/l

—

(3022948) Iron [Moles/volume] in Serum or Plasma

4.35

2.48

4.5

3.4

14.4

13.7

umol/l

—

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

7.21

2.47

24.4

1.0

62.2

63.9

g/l

—

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

7.21

2.47

1.4

1.1

—

(3037522) Nuclear Ab [Titer] in Serum

4.15

2.38

1.6

1.5

—

360.0

—

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

3.17

2.38

3.6

2.9

—

(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

5.74

2.16

1.2

1.4

—

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

5.74

2.16

5.2

12.9

3.7

g/l

—

(3002256) Pathology report gross observation

4.02

2.11

1.3

—

(3019225) pH of Specimen

4.41

2.05

7.0

3.6

—

(3005719) IgG [Mass/volume] in Serum or Plasma

3.82

2.02

2.9

3.5

6.9

10.0

g/l

—

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

2.80

1.95

6.8

5.8

—

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

3.64

1.94

1.4

1.7

21.8

129.4

u/ml

—

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

3.03

1.75

1.3

1.7

—

(40771025) 25-Hydroxyvitamin D3+25-Hydroxyvitamin D2 [Moles/volume] in Serum or Plasma

2.53

1.62

3.0

2.4

82.9

71.7

nmol/l

0.78

(3021589) Normoblasts [#/volume] in Blood

112

2.52

1.59

23.1

6.8

0.0

e9/l

0.00

(3023368) Bacteria identified in Blood by Culture

2.70

1.54

5.6

5.2

—

(36304419) Bacteria [Presence] in Urine

2.46

1.43

3.7

2.7

—

(3037467) Urinalysis macro (dipstick) panel - Urine

154

2.21

1.25

7.2

3.6

—

(3020961) Endomysium IgA Ab [Titer] in Serum

2.65

1.13

2.0

1.1

—

(3042936) Bacteria identified in Isolate by Culture

2.52

1.07

2.2

5.5

—

(40758558) Short blood count panel - Blood

2.05

0.95

34.8

6.4

—

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

2.09

0.87

30.2

5.8

5.9

kpa

—

(3012544) pH of Venous blood

2.02

0.84

29.8

6.2

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

200

2.00

0.81

6.7

4.2

36.7

38.4

mmol/mol

0.47

186

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

2.40

0.80

34.6

7.0

24.2

mmol/l

—

(3022313) Gas panel - Capillary blood

2.40

0.80

8.2

18.6

—

(3013512) EKG study

1.92

0.76

4.0

2.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.10

0.74

3.4

2.8

—

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

211

2.10

0.70

4.1

3.4

1.4

1.2

mmol/l

0.52

194

(3024354) Oxygen [Partial pressure] in Venous blood

1.94

0.69

33.8

4.7

4.8

kpa

—

(3015736) pH of Urine

1.76

0.68

4.8

2.3

—

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

1.77

0.68

1.6

1.8

—

(3000991) Gas panel - Venous blood

1.86

0.67

36.2

11.6

—

(3010813) Leukocytes [#/volume] in Blood

281

+∞

0.63

45.5

16.0

6.8

6.7

e9/l

0.04

271

(3000963) Hemoglobin [Mass/volume] in Blood

281

+∞

0.63

46.6

16.0

134.7

136.7

g/l

0.30

275

(3035941) MCH [Entitic mass]

281

+∞

0.63

45.2

15.9

30.5

29.7

1.66

275

(3026361) Erythrocytes [#/volume] in Blood

281

+∞

0.63

45.4

16.0

4.5

4.6

e12/l

0.70

271

(3007461) Platelets [#/volume] in Blood

281

+∞

0.63

45.3

16.0

260.7

266.1

e9/l

0.18

271

(3024731) MCV [Entitic volume]

281

+∞

0.63

45.2

15.9

90.3

88.7

0.85

275

(3023351) European house dust mite IgE Ab [Units/volume] in Serum

0.00

0.63

0.0

1.0

—

4.5

—

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

0.00

0.63

0.0

1.3

—

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

165

1.64

0.52

6.2

3.5

33.8

35.4

u/l

0.10

157

(3001122) Ferritin [Mass/volume] in Serum or Plasma

117

1.56

0.48

5.3

3.0

95.3

79.5

ug/l

0.24

110

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.49

0.44

1.6

1.7

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

222

1.75

0.42

4.8

3.5

1.4

1.5

mmol/l

0.24

203

(3001308) Cholesterol in LDL [Moles/volume] in Serum or Plasma

225

1.66

0.42

5.0

3.6

3.2

2.8

mmol/l

0.78

206

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

0.00

0.42

0.0

1.0

—

9.0

—

(3008401) Mugwort IgE Ab [Units/volume] in Serum

0.00

0.42

0.0

1.0

—

5.4

—

(3025941) Bacteria identified in Stool by Culture

0.00

0.42

0.0

1.1

—

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

0.00

0.42

0.0

1.1

—

0.0

—

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

0.00

0.42

0.0

1.1

—

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

1.53

0.38

1.5

2.2

—

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

1.38

0.35

1.7

2.4

—

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

1.42

0.34

1.1

1.4

—

(3026008) Bacteria identified in Urine by Culture

1.42

0.32

4.5

2.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.31

0.30

3.0

2.1

—

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

127

1.36

0.27

15.4

8.8

6.1

6.3

mmol/l

0.21

112

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

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

1.4

—

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

0.00

0.22

0.0

1.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.7

—

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

0.00

0.22

0.0

1.1

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.22

0.0

2.0

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.22

0.0

1.7

—

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

0.00

0.22

0.0

2.0

—

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

0.00

0.22

0.0

1.1

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.22

0.0

1.0

—

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

0.00

0.21

0.0

1.8

—

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

1.32

0.20

5.9

2.2

—

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

1.24

0.20

2.0

2.1

—

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

1.29

0.19

1.3

1.4

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.17

0.09

23.4

3.7

—

(3003338) MCHC [Mass/volume]

235

0.91

0.09

40.7

14.8

335.9

334.4

g/l

0.44

235

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

229

1.24

0.09

42.4

13.8

139.6

mmol/l

0.01

217

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

232

1.17

0.08

42.1

13.8

3.9

4.0

mmol/l

0.29

219

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

1.12

0.08

5.9

2.3

—

(3044889) 12 lead EKG panel

134

1.08

0.01

4.5

3.0

—

(3020891) Body temperature

0.00

0.0

4.4

—

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

0.00

0.0

1.8

—

1.5

—

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

0.00

0.0

1.3

—

(1616796) Gas panel - Central venous blood

0.00

0.0

1.0

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

0.00

0.0

1.0

—

(3019060) Gas panel - Arterial blood

0.00

0.0

82.0

—

(3007566) Smooth muscle Ab [Titer] in Serum

0.00

0.0

1.0

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

2.8

—

9.2

—

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

0.00

0.0

1.0

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.4

—

(3025149) Bordetella pertussis IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

2.8

—

4.8

—

(1761868) Lipid panel - Serum or Plasma

1.02

0.00

2.3

2.2

—

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

0.00

0.0

2.1

—

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

0.00

0.0

1.5

—

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

0.89

0.00

2.3

1.9

—

(3010421) pH of Blood

0.00

0.0

2.8

—

7.5

—

(40768443) Skin Pathology biopsy report

0.00

0.0

1.2

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

0.0

1.2

—

(4034850)

0.00

0.0

8.9

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

3.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.0

1.1

—

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

233

0.94

0.00

3.5

4.1

—

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

0.00

0.0

1.0

—

26.0

—

Mortality – FinRegistry

↥

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

Relationships between endpoints

↥

Index endpoint: C3_RETINOBLAST_EXALLC – Retinoblastoma, excluding all cancers (controls excluding all cancers)

GWS hits: -

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

NAME	C3_RETINOBLAST_EXALLC
CONTROL_EXCLUDE	C3_CANCER\|C3_CANCER_WIDE_EXALLC
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	C6921\|C6981\|C6991
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	C6921\|C6981\|C6991
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	C69
CANC_TOPO_EXCL
CANC_MORPH	951[0-4]
CANC_MORPH_EXCL
CANC_BEHAV	3

≡ 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

Retinoblastoma, excluding all cancers (controls excluding all cancers)

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 Retinoblastoma, excluding all cancers (controls excluding all cancers) (C3_RETINOBLAST_EXALLC)

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