Congenital retinoschisis

Q17_CONGEN_MALFO_RETI

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 — Q14.10, Q14.18 Cause of death: ICD-10 — Q14.10, Q14.18 2 out of 7 registries used, show all original rules.	92
4. Check minimum number of events None	92
5. Include endpoints None	92
6. Filter based on genotype QC (FinnGen only)	92

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF6v3

NAME	Q17_CONGEN_MALFO_RETI
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q141
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q141
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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 Congenital retinoschisis 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	1054	295	757
Only index persons	954	273	681
Unadjusted period prevalence (%)
Whole population	0.02	0.01	0.02
Only index persons	0.02	0.01	0.03
Median age at first event (years)
Whole population	34.56	47.65	29.44
Only index persons	37.40	49.24	32.66

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	92	41	51
Unadjusted period prevalence (%)	0.02	0.01	0.02
Median age at first event (years)	55.38	56.04	54.84

-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
86: Matched controls
862

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q14.10

ICD-10 Finland

Congenital retinoschis

+∞

88.3

H33.1

ICD-10 Finland

Retinoschisis and retinal cysts

256.1

20.5

Q14.18

ICD-10 Finland

Congenital malformation of retina

+∞

18.4

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

49.6

7.9

CKC12

NOMESCO Finland

Photocoagulation of retina

12.5

7.6

CKC10

NOMESCO Finland

Local photocoagulation of retina

33.0

7.3

Z31.5

ICD-10 Finland

Genetic counselling

13.9

6.2

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

376

2.25

3.48

6.6

8.3

1.2

mmol/l

0.38

318

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

7.92

3.10

1.0

1.8

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

7.04

2.91

1.0

1.7

—

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

4.22

2.86

2.8

2.0

—

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

3.87

2.65

2.8

2.3

—

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

5.80

2.24

1.2

1.1

—

(3023368) Bacteria identified in Blood by Culture

201

1.91

2.13

5.3

4.7

—

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

5.21

2.10

3.2

2.7

105.6

107.5

mmol/l

—

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

5.21

2.10

3.2

2.7

—

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

5.21

2.10

3.2

2.7

4.0

mmol/l

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

104

2.04

1.84

1.7

2.4

2.3

g/l

0.37

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

3.21

1.84

1.6

1.4

—

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

2.66

1.79

4.3

4.5

25.1

24.7

mmol/l

—

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

113

1.98

1.78

2.2

1.7

—

(3035637) Corticotropin [Mass/volume] in Plasma

4.00

1.74

1.6

1.5

—

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

2.72

1.55

1.3

1.1

—

(3026008) Bacteria identified in Urine by Culture

202

1.72

1.54

4.5

3.1

—

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

2.98

1.53

11.5

5.8

—

(3022313) Gas panel - Capillary blood

2.58

1.53

4.8

4.2

—

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

3.24

1.45

1.0

1.6

—

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

3.24

1.45

5.0

4.6

7.7

6.9

mmol/l

—

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

307

1.61

1.38

2.7

2.5

80.8

79.4

nmol/l

0.10

273

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.26

1.38

11.0

5.1

0.7

1.2

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

1.38

0.0

3.5

—

316.5

—

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

3.05

1.37

5.0

4.4

1.5

1.6

mmol/l

—

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

700

1.91

1.34

15.6

14.3

77.4

80.4

ml/min/173m2

0.57

562

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

2.10

1.28

1.4

1.7

—

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

360

1.56

1.26

9.0

5.2

0.0

estimate

—

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

758

1.97

1.24

16.5

15.1

20.3

22.8

mg/l

0.33

597

(40761511) CBC panel - Blood by Automated count

783

2.12

1.22

15.6

13.7

—

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

137

0.47

1.22

1.9

1.5

—

(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

2.21

1.22

1.6

—

(3020682) Albumin/Creatinine [Ratio] in Urine

223

1.59

1.21

4.5

3.9

10.4

9.5

mg/mmol

0.05

139

(3037467) Urinalysis macro (dipstick) panel - Urine

502

1.56

1.19

5.9

4.2

—

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

0.00

1.19

0.0

2.2

—

0.4

—

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

2.08

1.16

1.7

1.4

—

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

454

1.53

1.14

2.9

—

(3032080) INR in Blood by Coagulation assay

309

1.52

1.13

11.4

7.6

1.4

1.2

inr

0.39

(3018418) pH of Serum or Plasma

227

1.55

1.11

3.8

5.0

7.4

—

(3000330) Specific gravity of Urine by Test strip

2.28

1.11

9.9

4.4

—

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

2.46

1.10

1.0

1.6

—

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

107

0.44

1.09

1.8

1.6

—

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

283

1.51

1.09

5.8

4.1

—

(3000494) Fungus identified in Specimen by Culture

1.81

1.09

1.4

—

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

1.75

1.09

1.7

2.5

24.7

20.9

0.63

(3004588) Protein electrophoresis panel - Serum or Plasma

1.99

1.06

4.2

1.4

—

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

370

1.49

1.06

5.5

3.9

0.0

estimate

—

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

185

1.57

1.05

2.0

2.6

—

(3019473) Protein [Mass/volume] in Cerebral spinal fluid

2.34

1.04

1.2

2.5

435.6

404.6

mg/l

—

(3042936) Bacteria identified in Isolate by Culture

1.73

1.01

2.4

2.1

—

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

564

1.52

1.00

3.6

3.8

15.0

14.9

pmol/l

0.16

516

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

1.88

0.99

2.9

5.1

1.2

mmol/l

0.28

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

119

1.64

0.97

1.8

2.4

14.2

12.9

umol/l

0.32

111

(4010399)

1.81

0.95

1.6

—

(3009343) pH of Capillary blood

1.81

0.95

4.9

4.4

—

7.5

—

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

367

1.44

0.93

4.7

3.8

0.0

estimate

—

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

773

1.75

0.88

19.8

16.8

139.3

139.7

mmol/l

0.82

754

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

285

1.43

0.86

2.0

1.8

100.8

93.9

pmol/l

0.42

148

(40768797) Stomach Pathology biopsy report

107

1.60

0.83

1.5

1.2

—

(42870588) Differential panel, method unspecified - Blood

268

1.43

0.83

7.7

6.7

—

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

1.73

0.81

12.5

5.4

125.1

128.5

g/l

—

(3025941) Bacteria identified in Stool by Culture

1.77

0.78

1.3

1.4

—

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

1.82

0.78

4.5

4.3

24.5

24.3

mmol/l

—

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

778

1.68

0.77

20.3

16.8

4.0

mmol/l

0.45

756

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

2.24

0.77

1.0

1.5

—

(3012544) pH of Venous blood

1.64

0.77

9.7

6.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

207

1.43

0.76

6.6

3.9

—

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

2.14

0.76

1.8

2.1

—

(3007853) Bacteria identified in Skin by Aerobe culture

1.60

0.75

1.6

1.5

—

(3022096) Basophils/100 leukocytes in Blood

369

1.37

0.73

6.7

7.1

0.7

0.22

346

(3018010) Neutrophils/100 leukocytes in Blood

379

1.37

0.73

6.9

59.7

57.6

0.51

356

(3044640) Blood type and Crossmatch panel - Blood

246

1.39

0.72

2.2

2.6

—

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

1.90

0.69

1.8

1.3

1.2

g/l

—

(3049717) Cytology report of Urine Cyto stain

1.83

0.67

2.6

3.2

—

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

123

1.47

0.63

3.9

3.0

7.3

2.8

e6/l

—

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

704

1.46

0.63

4.4

4.0

1.2

1.3

mmol/l

0.19

643

(3006504) Eosinophils/100 leukocytes in Blood

376

1.33

0.62

7.0

7.1

2.5

2.7

0.25

348

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

0.00

0.61

0.0

1.4

—

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

0.00

0.61

0.0

1.4

—

(3002030) Lymphocytes/100 leukocytes in Blood

387

1.32

0.61

6.8

7.1

26.7

27.8

0.24

362

(3013512) EKG study

206

1.37

0.60

5.3

4.2

—

(3009542) Hematocrit [Volume Fraction] of Blood

685

1.41

0.59

15.6

15.4

39.2

40.4

0.50

508

(3019069) Monocytes/100 leukocytes in Blood

379

1.31

0.58

7.1

7.2

9.0

8.7

0.17

358

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

1.71

0.58

6.3

4.9

44.0

50.9

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

126

1.43

0.57

1.4

2.6

29.8

30.0

0.06

120

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

361

1.30

0.56

3.3

4.1

—

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

1.50

0.55

2.3

2.7

4.7

7.8

ug/l

—

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

238

1.32

0.53

2.7

2.6

54.0

55.8

u/l

0.12

227

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

128

1.40

0.52

3.9

2.6

3.0

0.8

e6/l

0.97

(3000991) Gas panel - Venous blood

1.51

0.51

8.7

9.9

—

(40768804) Tissue Pathology biopsy report

288

1.29

0.49

1.3

2.0

—

(4035726)

1.53

0.49

1.3

1.4

—

(3019225) pH of Specimen

1.53

0.49

5.0

5.2

—

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

197

1.30

0.44

3.8

4.4

0.0

estimate

—

(3012516) Albumin [Mass/volume] in Urine

207

1.29

0.43

4.0

3.1

31.7

65.0

mg/l

0.90

128

(3022145) Colonoscopy Study observation

1.42

0.42

1.4

—

(3043723) Beta 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

1.54

0.42

7.2

1.5

—

(3011288) Drugs identified in Urine by Screen method

0.00

0.41

0.0

1.8

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.40

0.0

1.1

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.40

0.0

1.4

—

303.6

—

(3002256) Pathology report gross observation

0.68

0.35

1.0

1.3

—

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

0.67

0.35

3.8

8.0

—

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

203

1.25

0.34

1.3

1.4

—

(3044889) 12 lead EKG panel

518

1.21

0.33

3.5

3.8

—

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

1.27

0.30

1.0

1.2

—

39.8

—

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

1.30

0.29

1.3

1.7

—

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

114

1.27

0.27

1.3

1.2

32.3

8.7

u/ml

—

(1761868) Lipid panel - Serum or Plasma

268

1.18

0.25

3.3

2.9

—

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

269

1.17

0.24

3.8

3.3

—

(40758558) Short blood count panel - Blood

202

1.18

0.23

4.7

8.2

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.23

0.22

1.0

1.2

—

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

222

1.17

0.22

3.8

2.9

3.4

0.5

e6/l

0.90

163

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

1.20

0.22

1.0

1.5

—

(40768806) Pleura Pathology biopsy report

0.00

0.21

0.0

1.8

—

(40768441) Liver Pathology biopsy report

0.00

0.21

0.0

1.0

—

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

1.28

0.21

1.6

3.9

—

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

0.00

0.21

0.0

3.2

—

6.9

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.21

0.0

4.5

—

68.1

—

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

243

1.16

0.20

4.1

4.5

20.9

23.5

0.40

115

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

1.26

0.19

1.8

1.5

—

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

726

1.18

0.19

4.8

4.5

1.5

mmol/l

0.13

667

(3022621) pH of Urine by Test strip

1.25

0.19

6.6

2.1

—

(3028026) IgM [Mass/volume] in Serum or Plasma

1.14

0.18

9.4

1.8

5.6

1.1

g/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.71

0.17

1.0

1.5

—

(3026493) Urate [Moles/volume] in Serum or Plasma

203

0.86

0.17

2.8

3.0

370.4

5867.7

umol/l

1.03

173

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

1.23

0.16

1.7

1.5

—

(3017446) Testosterone [Moles/volume] in Serum or Plasma

1.14

0.16

1.3

2.2

11.1

14.1

nmol/l

—

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

180

1.14

0.14

1.2

1.4

0.7

0.9

u/ml

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

730

1.15

0.14

4.8

4.5

4.6

mmol/l

0.35

676

(3022217) INR in Platelet poor plasma by Coagulation assay

1.19

0.14

3.7

16.9

1.3

inr

—

(3002582) Erythrocytes [#/volume] in Urine

250

1.11

0.13

3.7

3.2

121.8

285.0

e6/l

0.25

191

(36304419) Bacteria [Presence] in Urine

217

0.90

0.10

4.2

2.9

—

(3019060) Gas panel - Arterial blood

1.17

0.10

5.0

3.7

—

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

1.08

0.09

1.5

1.8

—

(36660697) Celiac disease serology panel - Serum

1.12

0.08

1.0

1.3

—

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

1.08

0.08

12.9

9.8

25.1

25.4

mmol/l

—

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

0.81

0.08

1.0

1.4

—

(3027945) Reticulocytes/100 erythrocytes in Blood

101

0.88

0.06

2.1

2.9

1.5

1.7

—

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

169

1.08

0.05

3.9

3.3

—

(3005013) Prostate Specific Ag Free [Mass/volume] in Serum or Plasma

179

1.08

0.05

3.4

3.0

0.6

0.8

ug/l

—

119

(40760892) CBC W Ordered Manual Differential panel - Blood

182

1.06

0.02

3.2

5.6

—

(3018095) Leukocytes [#/volume] in Urine

282

1.04

0.02

4.6

3.8

38.4

71.6

e6/l

0.36

201

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

114

1.06

0.01

4.5

7.2

1.0

1.1

mmol/l

1.03

105

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

748

1.01

0.00

5.6

5.0

2.6

2.8

mmol/l

0.74

688

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

171

0.99

0.00

1.4

1.5

2.3

2.4

g/l

—

102

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

0.96

0.00

1.4

1.6

—

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

0.84

0.00

1.6

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

0.0

1.1

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.2

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

2.0

—

(21494755) Public health laboratory ask at order entry panel

0.99

0.00

1.3

1.4

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.2

—

(40759844) Sjogrens syndrome-B extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

(40759849) Smith extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

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

0.93

0.00

2.4

19.1

10.3

g/l

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

4.6

—

63.0

—

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

0.00

0.0

4.2

—

0.8

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

11.1

—

(40761535) Cells panel - Urine sediment

0.90

0.00

2.6

3.8

—

(40761536) Microorganisms panel - Urine sediment

1.02

0.00

5.6

4.1

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.0

2.2

—

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

0.00

0.0

1.3

—

(3012565) Volume of 24 hour Urine

0.00

0.0

2.0

—

2157.5

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

0.0

1.8

—

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

0.00

0.0

3.7

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

(40759842) Ribonucleoprotein extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

(3014271) Vancomycin [Susceptibility]

0.00

0.0

2.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.1

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

0.00

0.0

1.1

—

(40759812) SCL-70 extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

7.4

—

(40759836) Histone Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

(4027681)

0.00

0.0

1.3

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.7

—

(3004451) EKG impression Narrative

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3017315) Amylase [Enzymatic activity/volume] in Urine

0.00

0.0

1.4

—

410.8

—

(46235128) Lupus anticoagulant aPTT and dRVVT screening panel W Reflex

0.00

0.0

1.4

—

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

0.00

0.0

1.5

—

(40759843) Sjogrens syndrome-A extractable nuclear Ab [Presence] in Serum by Immunoblot

0.00

0.0

1.2

—

(3015183) Erythrocyte sedimentation rate

0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.1

—

287.9

—

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

0.00

-0.00

0.0

1.4

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.3

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.1

—

(3025018) Bordetella pertussis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

143.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_CONGEN_MALFO_RETI and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
Q17_CONGEN_MALFO_RETI	0.904 [0.69, 1.18]	0.455
Birth year	0.986 [0.98, 1.0]	0.003

During the follow-up period (1.1.1998 — 31.12.2019), 60 out of 707 males with Q17_CONGEN_MALFO_RETI died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CONGEN_MALFO_RETI.

N-year risk	Females	Males
1	No data	0.189%
5	No data	1.041%
10	No data	2.591%
15	No data	4.784%
20	No data	8.06%

Relationships between endpoints

↥

Index endpoint: Q17_CONGEN_MALFO_RETI – Congenital retinoschisis

GWS hits: 5

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

Congenital retinoschisis

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