Congenital retinoschisis

Q17_CONGEN_MALFO_RETI

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
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.	96
4. Check minimum number of events None	96
5. Include endpoints None	96
6. Filter based on genotype QC (FinnGen only)	89

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:

Congenital retinoschisis

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	89	37	52
Unadjusted period prevalence (%)	0.02	0.01	0.02
Median age at first event (years)	56.48	56.88	56.20

-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

↥

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
96: Matched controls
960

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q14.10

ICD-10 Finland

Congenital retinoschis

+∞

95.3

H33.1

ICD-10 Finland

Retinoschisis and retinal cysts

105.1

22.9

Q14.18

ICD-10 Finland

Congenital malformation of retina

+∞

22.8

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

10.6

CK2L4

NOMESCO Finland

Wide-field/panoramic imaging of ocular fundus

40.9

9.2

Z3229

NOMESCO Finland

Other healthcare associate professional

4.7

7.3

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

4.4

7.2

CKC12

NOMESCO Finland

Photocoagulation of retina

7.8

7.2

XCW99

NOMESCO Finland

Other investigative procedure of eye

3.9

6.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3012447) Hantavirus puumala IgG Ab [Titer] in Serum

10.44

3.01

1.2

1.0

—

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

393

2.02

2.83

6.6

8.3

1.22

mmol/l

0.25

335

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

3.86

2.65

2.8

2.0

—

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

5.73

2.58

1.0

1.7

—

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

3.57

2.46

2.8

2.2

—

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

5.25

2.44

1.0

1.7

—

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

3.54

2.23

1.5

1.4

—

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

141

0.32

2.10

1.2

1.6

—

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

5.20

2.09

1.2

1.0

—

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

5.20

2.09

3.2

2.7

—

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

5.20

2.09

3.2

2.7

105.60

107.50

mmol/l

—

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

5.20

2.09

3.2

2.7

4.00

4.02

mmol/l

—

(3022217) INR in Platelet poor plasma by Coagulation assay

373

1.71

1.80

10.0

11.2

1.35

1.26

inr

0.32

116

(3023368) Bacteria identified in Blood by Culture

212

1.76

1.75

5.3

4.8

—

(3035637) Corticotropin [Mass/volume] in Plasma

3.99

1.73

1.6

1.5

—

(3026008) Bacteria identified in Urine by Culture

215

1.73

1.65

4.3

3.0

—

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

2.98

1.53

11.5

5.8

—

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

119

1.86

1.53

2.3

1.7

—

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

2.58

1.52

4.3

4.4

25.11

24.71

mmol/l

—

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

2.61

1.48

1.3

1.2

—

(3022313) Gas panel - Capillary blood

2.44

1.47

4.8

4.1

—

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

3.24

1.45

5.0

4.6

7.72

6.93

mmol/l

—

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

113

1.85

1.45

1.7

2.3

2.41

2.30

g/l

0.48

103

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

735

1.95

1.43

15.1

14.3

77.77

80.79

ml/min/173m2

0.58

596

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

372

1.58

1.38

8.7

5.1

0.00

estimate

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

2.26

1.38

11.0

5.1

0.78

0.66

—

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

3.04

1.37

5.0

4.4

1.48

1.60

mmol/l

—

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

0.00

1.36

0.0

3.4

—

306.83

—

(40761511) CBC panel - Blood by Automated count

819

2.19

1.34

15.1

13.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

2.20

1.34

11.0

5.0

0.67

1.21

—

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

484

1.57

1.30

3.0

—

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

153

0.48

1.28

1.8

1.5

—

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

292

1.57

1.28

5.6

4.1

—

(3020682) Albumin/Creatinine [Ratio] in Urine

230

1.59

1.24

4.2

3.7

10.45

9.28

mg/mmol

0.07

144

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

2.72

1.23

1.0

1.5

—

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

0.00

1.18

0.0

2.2

—

0.36

—

(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

2.14

1.18

1.6

—

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

382

1.51

1.17

5.3

3.8

0.00

estimate

—

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

2.01

1.17

1.4

1.6

—

(3037467) Urinalysis macro (dipstick) panel - Urine

523

1.52

1.14

5.7

4.1

—

(3000330) Specific gravity of Urine by Test strip

2.14

1.05

9.9

4.2

—

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

379

1.47

1.05

5.4

3.8

0.00

0.01

estimate

0.49

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

116

0.49

1.02

1.7

1.6

—

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

592

1.51

1.01

3.5

3.8

15.01

14.87

pmol/l

0.20

543

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

808

1.82

0.99

19.2

16.7

139.33

139.72

mmol/l

0.81

789

(3004588) Protein electrophoresis panel - Serum or Plasma

1.91

0.96

4.2

1.4

—

(3025941) Bacteria identified in Stool by Culture

1.91

0.96

1.3

1.4

—

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

1.91

0.96

1.7

1.3

—

(3018418) pH of Serum or Plasma

234

1.48

0.94

3.8

5.0

7.41

7.40

—

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

794

1.80

0.94

16.2

15.0

19.69

22.95

mg/l

0.50

625

(3041096) Erythrocytes [Presence] in Urine by Automated

216

1.49

0.94

6.3

3.8

—

(3000494) Fungus identified in Specimen by Culture

1.71

0.94

1.4

—

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

813

1.75

0.88

19.6

16.7

3.96

3.99

mmol/l

0.58

791

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

1.78

0.86

2.9

5.0

1.21

1.22

mmol/l

0.28

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

0.00

0.80

0.0

1.2

—

(3042936) Bacteria identified in Isolate by Culture

100

1.59

0.78

2.3

2.0

—

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

1.81

0.77

4.5

4.3

24.48

24.30

mmol/l

—

(4200892) Spirometry reversibility

1.73

0.77

1.6

—

(40768797) Stomach Pathology biopsy report

109

1.56

0.77

1.5

1.2

—

(3009343) pH of Capillary blood

1.70

0.76

4.9

4.3

—

7.43

—

(3007853) Bacteria identified in Skin by Aerobe culture

101

1.57

0.75

1.5

1.6

—

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

2.14

0.75

1.0

1.5

—

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

2.14

0.75

1.2

2.5

435.60

426.46

mg/l

—

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

302

1.37

0.72

2.0

1.8

100.82

93.88

pmol/l

0.43

159

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

1.97

0.71

1.8

2.2

—

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

1.97

0.71

1.0

1.5

—

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

200

1.41

0.71

2.0

2.6

—

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

1.83

0.67

1.8

1.3

1.28

1.18

g/l

—

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

203

1.39

0.65

3.7

4.4

0.00

estimate

—

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

1.69

0.64

12.5

5.3

125.13

129.65

g/l

—

(3049717) Cytology report of Urine Cyto stain

1.70

0.62

2.6

3.1

—

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

0.00

0.61

0.0

1.5

—

303.57

—

(3013512) EKG study

216

1.35

0.58

5.1

4.2

—

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

1.71

0.58

6.3

4.9

43.97

50.94

—

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

738

1.40

0.55

4.3

4.1

1.21

1.27

mmol/l

0.31

676

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

1.45

0.53

2.3

2.6

4.71

8.46

ug/l

—

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

128

1.40

0.52

3.9

2.9

7.28

2.87

e6/l

—

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

248

1.30

0.52

2.6

54.00

73.45

u/l

0.53

238

(40760892) CBC W Ordered Manual Differential panel - Blood

396

1.26

0.47

7.3

—

(4035726) Immunohistochemistry procedure

1.50

0.46

1.3

1.4

—

(3012516) Albumin [Mass/volume] in Urine

214

1.29

0.46

4.0

3.1

31.72

63.23

mg/l

0.88

134

(3018677) aPTT in Platelet poor plasma by Coagulation assay

131

1.36

0.46

1.4

2.6

29.80

30.11

0.09

125

(3019198) Lymphocytes [#/volume] in Blood

428

1.24

0.44

6.5

6.8

2.01

1.85

e9/l

0.25

385

(3044640) Blood type and Crossmatch panel - Blood

263

1.26

0.43

2.2

2.6

—

(3000991) Gas panel - Venous blood

1.44

0.43

8.7

10.0

—

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

133

1.34

0.42

3.9

2.6

3.05

0.79

e6/l

0.95

(3001604) Monocytes [#/volume] in Blood

420

1.23

0.42

6.4

6.8

0.59

e9/l

0.06

369

(3006315) Basophils [#/volume] in Blood

420

1.23

0.42

6.5

6.8

0.04

e9/l

0.46

369

(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

—

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

1.50

0.41

7.0

1.4

—

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

382

1.23

0.40

2.2

2.7

—

(40768804) Tissue Pathology biopsy report

298

1.22

0.35

1.3

2.0

—

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

0.66

0.35

3.8

7.9

—

(3002256) Pathology report gross observation

0.64

0.34

1.0

1.3

—

(3019225) pH of Specimen

1.39

0.34

5.0

4.9

—

(3022145) Colonoscopy Study observation

1.33

0.31

1.4

—

(3013115) Eosinophils [#/volume] in Blood

429

1.19

0.31

7.0

7.1

0.15

0.19

e9/l

2.11

382

(3044889) 12 lead EKG panel

541

1.18

0.29

3.4

3.8

—

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

255

1.20

0.29

4.2

4.6

19.83

23.31

0.59

123

(1761868) Lipid panel - Serum or Plasma

285

1.18

0.27

3.2

2.9

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

324

1.18

0.27

4.3

5.0

2.65

3.34

ug/l

0.23

287

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

212

0.81

0.27

2.8

3.0

370.39

8599.72

umol/l

1.24

184

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

1.23

0.27

1.3

1.7

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.65

0.27

1.0

1.5

—

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

219

1.19

0.25

1.3

1.4

—

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

0.73

0.25

1.0

1.4

—

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

280

1.16

0.22

3.6

3.2

—

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

117

1.23

0.22

1.3

1.2

32.26

8.48

u/ml

—

(40768441) Liver Pathology biopsy report

0.00

0.21

0.0

1.0

—

(40768806) Pleura Pathology biopsy report

0.00

0.21

0.0

1.8

—

(3051014) Leukocytes [#/area] in Urine sediment by Automated count

0.00

0.21

0.0

1.9

—

4.20

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

(36304419) Bacteria [Presence] in Urine

227

0.85

0.21

4.1

2.8

—

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

0.00

0.20

0.0

3.3

—

6.65

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

0.00

0.20

0.0

4.5

—

66.57

—

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

1.20

0.18

1.0

1.2

—

39.80

—

(3022621) pH of Urine by Test strip

1.18

0.18

6.6

2.1

—

(36660697) Celiac disease serology panel - Serum

1.19

0.17

1.0

1.3

—

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

1.21

0.14

1.6

3.9

—

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

1.21

0.14

1.8

1.5

—

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

190

1.13

0.14

1.2

1.4

0.72

0.93

u/ml

—

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

190

1.13

0.14

3.5

3.1

0.58

0.82

ug/l

—

127

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

760

1.14

0.14

4.7

4.5

1.47

1.45

mmol/l

0.14

701

(3027945) Reticulocytes/100 erythrocytes in Blood

105

0.84

0.14

2.1

2.8

1.49

1.71

—

(3002582) Erythrocytes [#/volume] in Urine

260

1.11

0.12

3.6

3.1

116.69

274.65

e6/l

0.26

199

(40758558) Short blood count panel - Blood

211

1.12

0.12

4.7

8.1

—

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

231

1.11

0.12

3.8

2.9

3.37

0.48

e6/l

0.90

171

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

1.18

0.11

1.7

1.5

—

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

1.17

0.10

1.0

—

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

1.17

0.10

1.0

1.5

—

(3019060) Gas panel - Arterial blood

1.14

0.10

5.0

3.7

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.14

0.10

1.0

1.2

—

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

764

1.11

0.10

4.7

4.5

4.52

4.64

mmol/l

0.47

710

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.12

0.10

1.2

—

(3017732) Neutrophils [#/volume] in Blood

1.12

0.10

2.8

3.0

3.75

3.74

e9/l

—

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

1.08

0.08

9.4

1.8

5.56

1.07

g/l

—

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

1.07

0.08

1.4

1.8

—

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

1.03

0.08

12.9

9.4

25.09

25.25

mmol/l

—

(40761536) Microorganisms panel - Urine sediment

1.10

0.08

5.0

4.1

—

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

173

1.05

0.01

3.9

3.3

—

(3018095) Leukocytes [#/volume] in Urine

293

1.03

0.01

4.5

3.7

38.66

70.99

e6/l

0.37

210

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

782

0.99

0.00

5.5

5.0

2.58

2.76

mmol/l

1.00

722

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

181

0.99

0.00

1.3

1.5

2.27

2.41

g/l

—

108

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

119

1.01

0.00

4.5

7.0

0.97

1.09

mmol/l

0.91

110

(21494755) Public health laboratory ask at order entry panel

0.90

0.00

1.3

1.5

—

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

0.00

-0.00

0.0

1.1

—

287.88

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

-0.00

0.0

4.6

—

63.00

—

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

0.92

-0.00

1.5

1.7

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

6.26

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

-0.00

0.0

2.2

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.3

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

410.80

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.5

—

(3015183) Erythrocyte sedimentation rate

0.00

-0.00

0.0

1.5

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.2

—

0.75

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.2

—

(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

—

(3012565) Volume of 24 hour Urine

0.00

-0.00

0.0

2.0

—

2157.50

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.2

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3014271) Vancomycin [Susceptibility]

0.00

-0.00

0.0

1.8

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

143.13

—

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

0.85

-0.00

1.4

1.7

—

(40761535) Cells panel - Urine sediment

0.89

-0.00

2.4

3.7

—

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

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

1.2

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

3.7

—

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

0.00

-0.00

0.0

1.2

—

7.40

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

11.1

—

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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints