Other congenital malformations of eye

Q17_OTHER_CONGEN_MALFO_EYE

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

Endpoint definition steps	FinnGen
Phenotype data	557745
1. Apply sex-specific rule None	557745
2. Check conditions None	557745
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.	55
4. Check minimum number of events None	55
5. Include endpoints Q17_CONGEN_GLAUC	55
6. Filter based on genotype QC (FinnGen only)	43

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	43	24	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	47.72	47.66	47.80

-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

↥

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

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(40758558) Short blood count panel - Blood

151

2.34

2.18

4.1

6.2

—

(3044889) 12 lead EKG panel

267

2.58

2.13

4.3

3.7

—

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

166

2.21

1.93

5.6

3.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

2.54

1.92

1.9

2.3

—

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

2.34

1.87

3.6

3.0

0.14

1.09

e6/l

—

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

2.26

1.68

3.7

3.3

7.13

2.28

e6/l

—

(3000963) Hemoglobin [Mass/volume] in Blood

446

+∞

1.61

25.6

27.2

131.39

132.78

g/l

0.28

441

(3024731) MCV [Entitic mean volume] in Red Blood Cells

446

+∞

1.61

25.5

27.0

88.87

89.55

0.39

441

(3010813) Leukocytes [#/volume] in Blood

446

+∞

1.61

25.5

27.2

6.62

6.87

e9/l

0.34

434

(3007461) Platelets [#/volume] in Blood

446

+∞

1.61

25.4

27.0

245.29

254.56

e9/l

0.45

437

(3035941) MCH [Entitic mass]

446

+∞

1.61

25.5

26.9

29.49

29.87

0.64

441

(3009542) Hematocrit [Volume Fraction] of Blood by calculation

446

+∞

1.61

25.9

27.9

38.65

39.68

0.53

441

(3026361) Erythrocytes [#/volume] in Blood

446

+∞

1.61

25.4

27.0

4.48

4.47

e12/l

0.03

434

(3018095) Leukocytes [#/volume] in Urine

177

2.00

1.53

6.5

4.1

9.77

116.76

e6/l

1.46

125

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

108

2.05

1.49

3.9

3.4

—

(3002582) Erythrocytes [#/volume] in Urine

160

1.98

1.49

5.5

3.3

9.91

57.95

e6/l

1.27

123

(37019628) Gastrointestinal bacterial pathogens panel - Stool by NAA with probe detection

3.35

1.47

1.2

1.6

—

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

143

1.98

1.46

5.4

3.2

0.02

0.31

e6/l

2.34

107

(36304419) Bacteria [Presence] in Urine

135

1.97

1.43

5.6

3.2

—

estimate

—

(40768804) Tissue Pathology biopsy report

144

1.96

1.43

1.7

2.0

—

(3018418) pH of Serum or Plasma

119

1.97

1.39

7.8

3.1

7.38

7.39

0.94

(40768797) Stomach Pathology biopsy report

2.28

1.35

1.0

1.3

—

(3003191) Choriogonadotropin [Presence] in Serum or Plasma

2.97

1.32

3.0

1.8

—

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

369

2.35

1.28

5.2

5.1

1.82

1.99

mu/l

0.49

338

(3026008) Bacteria identified in Urine by Culture

132

1.87

1.23

2.8

2.5

—

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

162

1.79

1.14

2.3

1.9

84.28

94.32

pmol/l

0.52

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

193

1.74

1.06

8.6

10.9

1.23

1.22

mmol/l

0.88

184

(3019225) pH of Specimen

0.00

1.01

0.0

7.9

—

7.38

—

(42870588) Differential panel, method unspecified - Blood

167

1.71

1.00

6.9

9.1

—

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

307

1.84

0.99

7.9

8.5

92.70

93.83

u/l

0.04

293

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

2.03

0.93

3.4

3.3

—

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

2.06

0.88

1.0

16.5

99.50

86.16

—

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

348

1.81

0.87

5.0

4.9

1.41

1.43

mmol/l

0.12

316

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

1.99

0.85

1.2

1.9

—

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

110

1.67

0.82

1.7

1.6

—

(3042936) Bacteria identified in Isolate by Culture

1.71

0.69

2.2

—

(36660697) Celiac disease serology panel - Serum

1.64

0.63

1.1

1.2

—

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

358

1.64

0.63

5.7

5.5

2.59

2.62

mmol/l

0.10

329

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

126

1.53

0.63

3.0

4.4

24.29

32.52

u/l

2.40

121

(3029187) Natriuretic peptide.B prohormone N-Terminal [Mass/volume] in Serum or Plasma

130

0.62

0.63

3.9

5.7

2747.78

1993.43

ng/l

—

104

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

0.00

0.62

0.0

1.3

—

(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

—

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

0.00

0.61

0.0

1.9

—

(3023368) Bacteria identified in Blood by Culture

136

1.51

0.61

3.0

5.1

—

(3045424) Erythrocytes [Presence] in Urine

0.00

0.61

0.0

2.2

—

0.00

—

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

213

1.47

0.59

3.5

3.2

116.16

96.71

ug/l

0.21

203

(1761868) Lipid panel - Serum or Plasma

143

0.62

0.59

3.8

3.2

—

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

1.58

0.58

1.8

1397.22

1228.39

nmol/l

—

(3027945) Reticulocytes/Erythrocytes in Blood

1.55

0.57

1.3

5.3

1.42

1.75

—

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

147

1.48

0.57

3.1

2.2

1.16

1.37

mmol/l

0.96

119

(3002256) Pathology report gross observation

1.53

0.49

1.1

1.3

—

(3013512) EKG study

125

1.42

0.44

1.6

4.4

—

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

192

1.37

0.44

6.7

5.4

37.67

35.75

g/l

0.79

181

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

1.44

0.43

1.8

3.5

—

(3000494) Fungus identified in Specimen by Culture

1.40

0.43

1.5

1.3

—

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

145

1.38

0.42

5.6

3.2

2.43

2.36

mmol/l

1.55

137

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.42

0.0

3.3

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.42

0.0

1.4

—

(3016879) Cocaine [Presence] in Urine

0.00

0.41

0.0

1.4

—

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

0.00

0.41

0.0

3.2

—

3.62

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.41

0.0

1.4

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.41

0.0

1.4

—

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

0.00

0.40

0.0

3.1

—

440.28

—

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

1.48

0.40

1.4

2.0

69.86

63.43

g/l

—

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

1.46

0.40

9.3

9.4

1.01

1.24

mmol/l

1.11

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

118

1.39

0.40

1.5

1.6

2.17

1.96

g/l

—

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

415

1.59

0.39

20.0

20.6

3.98

3.99

mmol/l

0.04

406

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

415

1.59

0.39

19.6

20.6

139.64

139.62

mmol/l

0.02

408

(3013650) Neutrophils [#/volume] in Blood by Automated count

267

1.32

0.35

9.9

12.8

3.45

4.19

e9/l

1.27

227

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

1.32

0.31

1.1

2.0

—

(3018010) Neutrophils/Leukocytes in Blood

219

1.29

0.31

8.8

8.4

51.44

53.56

0.29

211

(3044640) Blood type and Crossmatch panel - Blood

132

1.31

0.31

1.9

3.6

—

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

1.37

0.30

1.4

1.5

—

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

1.35

0.30

1.3

2.0

—

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

1.30

0.29

1.3

2.0

—

(3006504) Eosinophils/Leukocytes in Blood

221

1.27

0.28

7.4

8.5

4.06

3.02

1.38

206

(3019069) Monocytes/Leukocytes in Blood

222

1.26

0.27

7.4

8.5

9.13

8.70

0.33

210

(3014051) Protein [Presence] in Urine by Test strip

125

1.29

0.26

3.5

2.6

—

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

1.31

0.26

4.4

5.5

1.22

2.09

ug/l

0.73

(3015736) pH of Urine

184

1.25

0.25

4.4

3.3

6.33

6.21

0.19

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

1.35

0.24

1.4

1.1

—

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

295

0.81

0.23

3.1

3.7

—

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

225

1.23

0.23

6.1

3.5

0.00

estimate

—

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

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

—

1.09

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.21

0.0

4.0

—

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

0.00

0.21

0.0

1.3

—

0.93

—

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

0.00

0.21

0.0

1.3

—

0.82

—

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

226

1.22

0.21

6.1

3.6

0.00

estimate

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

4.3

—

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

0.00

0.21

0.0

3.2

—

3.82

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.29

0.21

2.0

1.9

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.20

0.0

4.6

—

(3002030) Lymphocytes/Leukocytes in Blood

227

1.21

0.20

7.7

8.4

30.80

30.73

0.01

216

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

1.17

0.20

2.2

8.9

23.03

23.01

mmol/l

—

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

1.22

0.19

1.3

2.1

—

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

1.28

0.19

1.2

2.0

—

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

218

1.20

0.19

6.3

8.9

21.45

19.50

umol/l

0.07

208

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

0.74

0.18

7.8

10.8

102.40

104.66

mmol/l

—

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

1.19

0.17

5.4

9.5

0.71

0.81

mmol/l

—

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

230

1.18

0.16

6.2

3.5

0.00

estimate

—

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

0.79

0.16

1.7

1.8

446.57

494.58

pmol/l

—

(3022096) Basophils/Leukocytes in Blood

221

1.17

0.15

8.1

8.5

0.82

0.68

0.88

209

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

353

1.20

0.14

5.3

4.8

5.59

5.84

mmol/l

1.34

321

(40760892) CBC W Ordered Manual Differential panel - Blood

1.20

0.13

6.3

6.0

—

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

117

1.15

0.09

1.7

1.5

28.85

22.19

nmol/l

0.51

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

1.08

0.09

2.3

1.4

—

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

337

1.14

0.08

4.0

4.1

1.11

1.15

mmol/l

0.20

303

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

1.10

0.07

2.3

1.8

—

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

0.83

0.07

1.3

4.6

329.88

337.23

umol/l

—

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

121

0.88

0.06

1.6

2.0

—

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

159

0.92

0.04

3.7

3.8

32.89

44.02

ng/l

—

116

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

348

0.92

0.03

5.6

6.1

36.76

38.75

mmol/mol

1.12

322

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

117

0.92

0.02

5.4

3.2

70.18

54.50

u/l

0.34

110

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

126

0.94

0.01

8.3

3.7

0.00

estimate

—

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

174

1.05

0.00

2.9

3.6

—

estimate

—

(3041096) Erythrocytes [Presence] in Urine by Automated

121

0.99

0.00

5.8

2.9

0.00

estimate

—

(3048689) Calprotectin [Mass/mass] in Stool

0.93

0.00

1.2

2.1

86.33

105.37

ug/g

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

2.7

—

329.00

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

4.0

—

28.57

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

5.1

—

9.26

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

-0.00

0.0

4.2

—

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

0.96

-0.00

8.7

17.1

25.17

24.98

mmol/l

—

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

0.00

-0.00

0.0

1.6

—

1.88

—

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

0.00

-0.00

0.0

1.0

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.0

—

1.00

—

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

0.00

-0.00

0.0

1.4

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

-0.00

0.0

1.1

—

(3030408) 3-Methoxytyramine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.8

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.8

—

1411.12

—

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

0.00

-0.00

0.0

1.2

—

11.50

—

(3012202) Varicella zoster virus DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

153.86

—

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

0.00

-0.00

0.0

1.0

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.8

—

0.90

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.3

—

(3011391) Calcitriol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

103.80

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

(3000991) Gas panel - Venous blood

1.00

-0.00

6.0

9.9

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.7

—

(3011951) Aspergillus fumigatus IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.8

—

12.93

—

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

0.00

-0.00

0.0

1.4

—

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

0.98

-0.00

2.3

1.4

—

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

0.00

-0.00

0.0

1.7

—

1544.00

—

(3022493) Free Hemoglobin [Mass/volume] in Plasma

0.00

-0.00

0.0

23.0

—

99.60

—

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

0.00

-0.00

0.0

1.7

—

0.10

—

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

0.00

-0.00

0.0

4.9

—

2.98

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

166.33

—

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

0.00

-0.00

0.0

1.8

—

(4062490) Immunoglobulin typing, IgG

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

1.3

—

88.67

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.3

—

(3011897) Casein IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

4.0

—

7.62

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

9.3

—

(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.2

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

7.0

—

78.20

—

(3016914) Bacteria identified in Cerebral spinal fluid by Culture

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

4.5

—

125.17

—

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

0.00

-0.00

0.0

1.0

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

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

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints