Other congenital malformations of eye

Q17_OTHER_CONGEN_MALFO_EYE

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 — Q15 Cause of death: ICD-10 — Q15 2 out of 7 registries used, show all original rules.	48
4. Check minimum number of events None	48
5. Include endpoints Q17_CONGEN_GLAUC	48
6. Filter based on genotype QC (FinnGen only)	48

Control definitions (FinnGen only)

Control exclude: Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q1
Name in latin: Aliae malformationes congenitae oculi

NAME	Q17_OTHER_CONGEN_MALFO_EYE
CONTROL_EXCLUDE	Q17_CONGEN_MALFO_EYE_EAR_FACE_NECK
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE	Q17_CONGEN_GLAUC
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q15
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q15
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

Similar endpoints

↥

List of similar endpoints to Other congenital malformations of eye based on the number of shared cases.

Similar with more cases:

Similar with less cases:

Congenital glaucoma

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	525	234	288
Only index persons	427	193	234
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	18.66	28.71	9.93
Only index persons	23.10	30.94	16.64

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	48	26	22
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	43.98	42.45	45.78

-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

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

(3007853) Bacteria identified in Skin by Aerobe culture

2.93

2.45

1.9

2.3

—

(3002385) Erythrocyte distribution width [Ratio]

341

3.50

2.23

17.8

20.6

13.6

0.03

334

(3044889) 12 lead EKG panel

237

2.49

2.14

3.7

3.5

—

(40758558) Short blood count panel - Blood

116

2.24

1.87

4.4

6.8

—

(3000963) Hemoglobin [Mass/volume] in Blood

431

+∞

1.81

21.4

23.2

131.3

132.7

g/l

0.28

422

(3010813) Leukocytes [#/volume] in Blood

431

+∞

1.81

21.5

23.2

6.6

6.9

e9/l

0.27

415

(3007461) Platelets [#/volume] in Blood

431

+∞

1.81

21.4

23.1

244.7

253.1

e9/l

0.38

418

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

2.31

1.73

3.3

2.8

0.1

0.9

e6/l

—

(3018418) pH of Serum or Plasma

2.17

1.62

7.8

3.1

7.4

—

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

150

2.02

1.54

5.4

3.5

—

(36304419) Bacteria [Presence] in Urine

124

2.05

1.53

5.4

3.1

—

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

2.19

1.49

3.4

3.1

7.1

2.3

e6/l

—

(3018095) Leukocytes [#/volume] in Urine

152

1.99

1.47

6.1

4.0

9.7

75.4

e6/l

1.72

107

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

324

2.08

1.29

13.2

83.4

83.8

ml/min/173m2

0.03

251

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

2.39

1.29

2.8

3.6

—

(3009542) Hematocrit [Volume Fraction] of Blood

373

2.46

1.20

16.2

17.5

36.8

39.1

0.73

285

(40768804) Tissue Pathology biopsy report

127

1.82

1.11

1.7

2.0

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

173

1.77

1.10

8.4

10.9

1.2

mmol/l

0.64

165

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

128

1.80

1.08

4.9

3.6

—

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

129

1.78

1.05

2.0

1.8

77.2

91.3

pmol/l

—

(3042936) Bacteria identified in Isolate by Culture

1.97

1.00

2.0

2.2

—

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

1.82

0.99

3.9

3.3

—

(3026008) Bacteria identified in Urine by Culture

115

1.74

0.94

2.7

2.5

—

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

384

2.15

0.90

16.4

18.6

139.6

139.5

mmol/l

0.08

374

(42870588) Differential panel, method unspecified - Blood

153

1.66

0.88

5.6

8.5

—

(3025839) Triglyceride [Moles/volume] in Serum or Plasma

1.78

0.86

2.8

2.0

1.2

1.3

mmol/l

0.25

(3019225) pH of Specimen

0.00

0.82

0.0

8.7

—

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

0.00

0.82

0.0

1.6

—

(3035995) Alkaline phosphatase [Enzymatic activity/volume] in Serum or Plasma

284

1.68

0.81

6.5

7.4

91.1

93.7

u/l

0.08

271

(3023368) Bacteria identified in Blood by Culture

120

1.65

0.79

3.0

5.0

—

(40768797) Stomach Pathology biopsy report

1.98

0.78

1.0

1.2

—

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

386

2.09

0.76

16.7

18.5

4.0

mmol/l

0.04

374

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

1.81

0.65

1.2

1.4

—

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

0.54

0.63

1.4

4.6

346.2

346.6

umol/l

—

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

1.58

0.63

1.6

—

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

0.00

0.62

0.0

1.3

—

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

0.00

0.62

0.0

1.3

—

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

0.00

0.62

0.0

1.3

—

(36032419) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Immunoassay

0.00

0.61

0.0

1.9

—

(3013512) EKG study

1.59

0.61

1.5

5.0

—

(3019309) Folate [Moles/volume] in Red Blood Cells

1.64

0.59

1.8

1397.2

1207.8

nmol/l

—

(3002256) Pathology report gross observation

1.71

0.58

1.0

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

255

1.47

0.56

5.5

4.5

—

(1761868) Lipid panel - Serum or Plasma

112

0.66

0.43

3.6

2.8

—

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

0.00

0.40

0.0

1.3

—

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

167

1.34

0.37

3.3

2.8

129.4

88.5

ug/l

0.40

159

(3015736) pH of Urine

148

1.35

0.36

4.4

3.3

—

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

1.41

0.36

1.2

2.2

—

(36660697) Celiac disease serology panel - Serum

1.35

0.34

1.2

—

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

1.37

0.33

1.4

1.5

—

(3000494) Fungus identified in Specimen by Culture

1.35

0.32

1.4

1.2

—

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

1.37

0.32

3.6

4.8

1.2

2.2

ug/l

0.75

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

1.32

0.31

4.1

2.3

24.7

25.7

—

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

1.32

0.31

1.3

1.9

—

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

1.32

0.31

1.3

1.9

—

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

342

1.36

0.31

4.3

4.4

1.7

2.0

mu/l

0.91

308

(3006504) Eosinophils/100 leukocytes in Blood

201

1.28

0.29

6.2

8.0

4.1

3.0

1.43

187

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

323

1.31

0.28

4.5

4.1

1.4

mmol/l

0.28

288

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

1.31

0.28

2.2

1.7

—

(3019069) Monocytes/100 leukocytes in Blood

202

1.27

0.27

6.2

8.1

9.2

8.5

0.55

191

(3018010) Neutrophils/100 leukocytes in Blood

202

1.27

0.27

7.3

7.8

52.6

53.3

0.07

192

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

1.27

0.27

1.2

2.0

—

(3015377) Calcium [Moles/volume] in Serum or Plasma

125

1.29

0.27

4.1

3.3

2.4

mmol/l

0.77

110

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

1.39

0.24

1.4

1.1

—

(3014111) Lactate [Moles/volume] in Serum or Plasma

1.21

0.22

4.4

10.7

1.1

1.4

mmol/l

—

(3002030) Lymphocytes/100 leukocytes in Blood

206

1.22

0.22

6.2

8.0

29.5

31.0

0.16

193

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.21

0.0

5.3

—

(1001926) Buprenorphine [Presence] in Urine by Screen method

0.00

0.21

0.0

1.4

—

(3036086) Jo-1 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.2

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.21

0.0

3.4

—

3.8

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

4.5

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

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

1.32

0.21

2.2

1.4

—

(3027450) Sjogrens syndrome-B extractable nuclear Ab [Units/volume] in Serum

0.00

0.21

0.0

1.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3016879) Cocaine [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3027008) Opiates [Presence] in Urine

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.2

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.2

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3017895) Helicobacter pylori Ab [Units/volume] in Serum

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.3

—

0.3

—

(3020044) Glucose [Moles/volume] in Cerebral spinal fluid

0.00

0.21

0.0

3.5

—

3.7

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.30

0.21

6.3

6.2

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.20

0.0

3.4

—

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

0.00

0.20

0.0

3.4

—

282.1

—

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

0.00

0.20

0.0

1.4

—

1.1

—

(3022096) Basophils/100 leukocytes in Blood

198

1.21

0.19

6.5

8.0

0.8

0.7

0.82

187

(3044640) Blood type and Crossmatch panel - Blood

120

1.24

0.19

1.9

3.5

—

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

1.19

0.19

2.1

1.4

—

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

1.25

0.18

1.8

3.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.17

0.17

2.3

1.7

—

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

1.19

0.17

1.4

31.0

21.9

nmol/l

—

(3032080) INR in Blood by Coagulation assay

142

1.19

0.15

9.9

7.8

1.2

inr

—

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

104

0.83

0.15

1.7

2.0

—

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

192

1.17

0.14

5.4

8.3

23.5

19.6

umol/l

0.12

183

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

333

1.19

0.14

5.1

4.6

2.6

2.7

mmol/l

0.25

300

(3041096) Erythrocytes [Presence] in Urine by Automated

1.20

0.13

5.9

3.0

—

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

325

1.16

0.11

4.7

4.3

5.7

5.8

mmol/l

0.59

294

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

314

0.88

0.09

5.1

5.5

37.3

39.3

mmol/mol

0.98

289

(3048689) Calprotectin [Mass/mass] in Stool

0.83

0.09

1.0

2.0

97.8

125.6

ug/g

—

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

0.80

0.08

1.7

469.0

530.3

pmol/l

—

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

1.06

0.08

11.3

9.1

1.1

1.2

mmol/l

—

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

281

0.91

0.06

3.0

3.7

—

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

169

0.92

0.04

6.4

5.2

36.5

35.7

g/l

0.17

160

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

142

1.08

0.03

2.9

3.6

32.9

44.1

ng/l

—

102

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

315

1.05

0.00

3.7

3.8

1.1

1.2

mmol/l

0.25

280

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

104

0.95

0.00

3.7

3.1

71.2

55.3

u/l

—

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

284

0.97

0.00

4.2

3.9

14.8

14.7

pmol/l

0.06

262

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

162

0.98

0.00

4.6

5.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.0

1.2

—

(3039162) Centromere protein B Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.3

—

(3044927) Protein electrophoresis panel - Urine

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

(3026389) Candida sp identified in Specimen by Organism specific culture

0.00

0.0

1.0

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

3.9

—

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

0.00

0.0

1.0

—

(40768453) Hazelnut native (nCor a) 9 IgE Ab [Units/volume] in Serum

0.00

0.0

1.6

—

1.5

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

139.8

—

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

0.00

0.0

1.3

—

(3010380) Borrelia burgdorferi IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

6.8

—

78.2

—

(3011166) Borrelia burgdorferi Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

1.04

0.00

8.5

16.5

25.2

24.7

mmol/l

—

(3027901) Hemoglobin [Mass/volume] in Arterial cord blood

0.00

0.0

1.0

—

166.3

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.0

—

(3011985) Renin [Units/volume] in Plasma

0.00

0.0

1.6

—

1685.5

—

(3050238) Crystals [Presence] in Synovial fluid by Light microscopy

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

0.0

4.8

—

(3001788) Aldosterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.5

—

1739.2

—

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

0.00

0.0

1.2

—

(3027945) Reticulocytes/100 erythrocytes in Blood

0.94

0.00

1.4

5.3

1.6

—

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

0.00

0.0

1.0

—

(3051651) Icteric interference index of Serum or Plasma

0.00

0.0

1.0

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

3.0

—

(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence

0.00

0.0

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.0

1.9

—

(3013005) Retinol [Moles/volume] in Serum or Plasma

0.00

0.0

2.5

—

1.4

—

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

0.00

0.0

1.2

—

(40758310) Human epididymis protein 4 [Moles/volume] in Serum or Plasma

0.00

0.0

1.3

—

72.7

—

(3004383) Neutrophil cytoplasmic Ab.classic [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(3028707) Methadone [Presence] in Urine by Screen method

0.00

0.0

2.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.6

—

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

0.92

0.00

7.2

11.1

102.4

104.4

mmol/l

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.0

1.5

—

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

0.00

0.0

1.4

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(3020717) Zinc [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

11.2

—

(3016244) Insulin [Units/volume] in Serum or Plasma

0.00

0.0

4.9

—

6.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

0.0

1.2

—

(3037756) Immunofixation for Serum or Plasma

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(3045142) Bone marrow Pathology biopsy report

0.00

0.0

1.6

—

(3044941) Cell count panel - Synovial fluid

0.00

0.0

1.4

—

(3021788) Differential panel - Synovial fluid

0.00

0.0

1.2

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

0.0

1.0

—

(3046896) Herpes virus 6 DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

0.0

1.0

—

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

0.00

0.0

4.2

—

148.4

—

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

0.00

0.0

3.0

—

0.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum

0.00

0.0

1.7

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

1.02

0.00

5.4

10.0

0.7

0.8

mmol/l

—

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

1.02

0.00

1.4

2.2

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

0.0

4.2

—

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

0.00

0.0

1.4

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

0.0

10.2

—

(4027681)

0.00

0.0

1.3

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.3

—

88.7

—

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

0.00

0.0

4.1

—

13.2

—

(3000991) Gas panel - Venous blood

0.85

0.00

7.0

8.5

—

(3035999) Lactate [Moles/volume] in Cerebral spinal fluid

0.00

0.0

1.8

—

1.5

—

(4094501)

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

11.5

—

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

0.00

0.0

4.6

—

3.0

—

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

0.00

0.0

1.7

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CONGEN_MALFO_EYE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CONGEN_MALFO_EYE.

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_OTHER_CONGEN_MALFO_EYE – Other congenital malformations of eye

GWS hits: -

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

Other congenital malformations of eye

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints