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	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 — Q15 Cause of death: ICD-10 — Q15 2 out of 7 registries used, show all original rules.	49
4. Check minimum number of events None	49
5. Include endpoints Q17_CONGEN_GLAUC	49
6. Filter based on genotype QC (FinnGen only)	44

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	44	25	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	46.28	45.13	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

(3044889) 12 lead EKG panel

242

2.56

2.28

3.7

3.5

—

(3002385) Erythrocyte distribution width [Ratio]

352

3.44

2.22

18.0

20.3

13.55

14.30

1.76

344

(3007853) Bacteria identified in Skin by Aerobe culture

2.74

2.20

1.9

2.2

—

(40758558) Short blood count panel - Blood

117

2.39

2.20

4.2

6.8

—

(3007461) Platelets [#/volume] in Blood

441

+∞

1.81

21.3

22.9

245.90

253.04

e9/l

0.31

428

(3010813) Leukocytes [#/volume] in Blood

441

+∞

1.81

21.3

23.0

6.63

6.85

e9/l

0.28

425

(3000963) Hemoglobin [Mass/volume] in Blood

441

+∞

1.81

21.4

23.0

131.27

132.73

g/l

0.30

432

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

2.30

1.73

3.3

2.8

0.14

0.95

e6/l

—

(3003191) Choriogonadotropin (pregnancy test) [Presence] in Serum or Plasma

3.85

1.66

2.8

2.0

—

(3018418) pH of Serum or Plasma

2.10

1.52

7.8

3.1

7.39

7.41

—

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

2.18

1.49

3.4

3.1

7.13

2.28

e6/l

—

(36304419) Bacteria [Presence] in Urine

127

1.97

1.41

5.4

3.1

—

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

154

1.93

1.39

5.4

3.4

—

(3018095) Leukocytes [#/volume] in Urine

155

1.91

1.36

6.1

4.0

9.67

73.37

e6/l

1.71

110

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

333

2.09

1.29

12.9

13.1

83.41

84.41

ml/min/173m2

0.09

259

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

131

1.89

1.27

2.0

1.8

77.20

91.63

pmol/l

—

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

2.32

1.25

2.8

3.6

—

(40768804) Tissue Pathology biopsy report

133

1.85

1.20

1.6

2.0

—

(3026008) Bacteria identified in Urine by Culture

119

1.81

1.08

2.8

2.5

—

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

176

1.71

1.00

8.4

10.8

1.24

1.22

mmol/l

0.69

168

(3042936) Bacteria identified in Isolate by Culture

1.96

1.00

2.0

2.2

—

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

2.21

0.93

1.2

1.4

—

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

393

2.17

0.90

16.2

18.2

139.61

139.54

mmol/l

0.07

382

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

395

2.11

0.90

16.5

18.2

3.98

3.99

mmol/l

0.07

382

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

1.74

0.89

3.9

3.3

—

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

290

1.72

0.89

6.4

7.4

89.77

93.03

u/l

0.11

276

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

136

1.65

0.84

4.9

3.6

—

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

1.75

0.82

2.8

2.0

1.23

1.30

mmol/l

0.20

(3019225) pH of Specimen

0.00

0.81

0.0

8.6

—

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

0.00

0.81

0.0

1.6

—

(40768797) Stomach Pathology biopsy report

1.92

0.76

1.0

1.3

—

(3023368) Bacteria identified in Blood by Culture

121

1.62

0.76

3.0

5.0

—

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

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

—

(42529406) Shigella sp [Presence] in Stool by 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

—

(3037467) Urinalysis macro (dipstick) panel - Urine

262

1.50

0.61

5.4

4.3

—

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

1.58

0.58

1.8

1397.22

1228.39

nmol/l

—

(3013512) EKG study

1.56

0.58

1.5

4.9

—

(3002256) Pathology report gross observation

1.66

0.56

1.0

1.3

—

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

102

1.52

0.55

1.6

—

(1761868) Lipid panel - Serum or Plasma

117

0.62

0.54

3.6

2.8

—

(40760892) CBC W Ordered Manual Differential panel - Blood

207

1.42

0.52

7.2

8.7

—

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

0.00

0.42

0.0

3.2

—

336.33

—

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

0.00

0.42

0.0

1.4

—

1.12

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

0.00

0.42

0.0

3.3

—

(3006504) Eosinophils/100 leukocytes in Blood

204

1.35

0.40

6.0

7.9

4.04

3.01

1.29

190

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

175

1.35

0.39

3.4

2.8

124.01

86.57

ug/l

0.38

167

(3018010) Neutrophils/100 leukocytes in Blood

205

1.33

0.38

7.1

7.7

52.50

53.21

0.08

195

(3019069) Monocytes/100 leukocytes in Blood

205

1.33

0.38

6.0

8.0

9.14

8.44

0.58

194

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

0.65

0.37

1.3

4.5

318.67

343.51

umol/l

—

(36660697) Celiac disease serology panel - Serum

1.35

0.34

1.2

—

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

351

1.37

0.32

4.3

4.4

1.73

1.98

mu/l

0.90

315

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

1.37

0.32

3.6

4.8

1.24

2.17

ug/l

0.75

(3002030) Lymphocytes/100 leukocytes in Blood

209

1.29

0.32

6.0

7.9

30.02

30.86

0.09

199

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

1.32

0.31

1.3

1.9

—

(3000494) Fungus identified in Specimen by Culture

1.32

0.31

1.4

1.2

—

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

1.32

0.31

1.3

1.9

—

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

1.32

0.31

4.1

2.3

24.71

25.67

—

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

332

1.32

0.29

4.4

4.1

1.41

1.45

mmol/l

0.24

298

(3022096) Basophils/100 leukocytes in Blood

201

1.27

0.29

6.3

7.9

0.80

0.66

0.94

190

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

1.28

0.27

2.2

1.7

—

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

1.26

0.27

1.2

2.0

—

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

1.35

0.27

1.4

29.93

21.90

nmol/l

—

(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

—

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

109

0.79

0.23

1.7

1.9

—

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

0.00

0.21

0.0

1.4

—

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

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

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.3

—

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

1.31

0.21

1.2

2.1

—

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

1.31

0.21

2.2

1.4

—

(3008757) Leukocyte morphology finding [Identifier] in Blood

0.00

0.21

0.0

4.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3044290) Cell count panel - Cerebral spinal fluid

0.00

0.21

0.0

4.9

—

(3027008) Opiates [Presence] in Urine

0.00

0.21

0.0

1.6

—

(3000764) Benzodiazepines [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

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.21

0.0

1.6

—

(40768793) Breast Pathology biopsy report

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

(3016879) Cocaine [Presence] in Urine

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

3.3

—

3.82

—

(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

0.20

0.0

1.3

—

0.25

—

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

0.00

0.20

0.0

3.4

—

3.71

—

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

1.17

0.20

1.3

2.1

—

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

1.22

0.19

1.4

—

(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

—

(3044640) Blood type and Crossmatch panel - Blood

121

1.22

0.17

1.9

3.5

—

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

1.15

0.17

5.0

9.7

0.70

0.82

mmol/l

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

1.15

0.17

2.3

1.7

—

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

0.75

0.17

1.7

469.00

519.06

pmol/l

—

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

290

0.85

0.16

3.0

3.6

—

(3022217) INR in Platelet poor plasma by Coagulation assay

161

1.19

0.16

16.2

14.8

1.20

1.22

inr

—

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

342

1.20

0.15

5.1

4.5

2.60

2.66

mmol/l

0.17

310

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

334

1.17

0.12

4.7

4.3

5.64

5.80

mmol/l

0.67

302

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

194

1.14

0.11

5.4

8.4

23.48

19.47

umol/l

0.13

185

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

1.10

0.10

1.8

9.2

22.60

22.93

mmol/l

—

(3027945) Reticulocytes/100 erythrocytes in Blood

1.13

0.09

1.5

5.2

1.60

1.61

—

(3048689) Calprotectin [Mass/mass] in Stool

0.83

0.09

1.0

2.0

97.80

125.58

ug/g

—

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

1.06

0.08

11.3

9.1

1.06

1.24

mmol/l

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

321

0.91

0.06

4.9

5.4

37.27

39.31

mmol/mol

1.03

296

(3041096) Erythrocytes [Presence] in Urine by Automated

100

1.13

0.06

5.9

3.0

—

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

106

0.93

0.01

3.7

3.1

71.20

55.13

u/l

—

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

324

1.06

0.01

3.7

3.8

1.11

1.17

mmol/l

0.32

289

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

145

1.05

0.00

2.9

3.5

32.89

43.43

ng/l

—

104

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

165

0.96

0.00

2.6

3.4

—

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

292

0.98

0.00

4.2

3.8

14.69

14.70

pmol/l

0.00

269

(3000991) Gas panel - Venous blood

0.85

0.00

7.0

8.5

—

(3023410) Appearance of Cerebral spinal fluid

0.00

-0.00

0.0

3.9

—

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

0.00

-0.00

0.0

1.0

—

(3034770) Mitochondria Ab [Titer] in Serum

0.00

-0.00

0.0

1.8

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

-0.00

0.0

1.0

—

(3037756) Immunofixation for Serum or Plasma

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.2

—

(3004616) Nuclear Ab [Presence] in Serum

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

6.8

—

78.20

—

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

1.04

-0.00

8.5

16.5

25.17

24.69

mmol/l

—

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

0.00

-0.00

0.0

1.1

—

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

0.00

-0.00

0.0

1.3

—

(3032773) Endomysium IgG Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.0

—

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

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

1.0

—

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

0.00

-0.00

0.0

4.6

—

3.01

—

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

0.00

-0.00

0.0

1.0

—

139.83

—

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

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3045424) Erythrocytes [Presence] in Urine

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.5

—

23.58

—

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

0.90

-0.00

7.2

11.0

102.40

104.49

mmol/l

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

2.5

—

1.43

—

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

0.00

-0.00

0.0

1.0

—

(3016018) Differential panel - Cerebral spinal fluid

0.00

-0.00

0.0

10.2

—

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

0.00

-0.00

0.0

1.2

—

12.67

—

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

0.00

-0.00

0.0

1.0

—

(3042111) Morphology [Interpretation] in Bone marrow Narrative

0.00

-0.00

0.0

4.8

—

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

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

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

-0.00

0.0

1.3

—

88.67

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

0.00

-0.00

0.0

1.2

—

(3005033) Fetal Nuchal fold Thickness US

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

4.1

—

13.23

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(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

2.0

—

(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

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

4.9

—

6.44

—

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

0.00

-0.00

0.0

1.2

—

11.50

—

(3044941) Cell count panel - Synovial fluid

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.3

—

72.73

—

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

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

3.3

—

7.65

—

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

0.00

-0.00

0.0

3.0

—

0.37

—

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

4.2

—

148.40

—

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

0.00

-0.00

0.0

1.4

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.8

—

1.47

—

(3011985) Renin [Units/volume] in Plasma

0.00

-0.00

0.0

1.6

—

1685.48

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

(3011166) Borrelia burgdorferi Ab [Presence] 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

—

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

0.00

-0.00

0.0

1.5

—

1739.17

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

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

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

—

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

0.00

-0.00

0.0

1.2

—

(3045142) Bone marrow Pathology biopsy report

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.7

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.6

—

1.53

—

(40768800) Prostate Pathology biopsy report

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.4

—

(3020393) Adenovirus Ag [Presence] in Stool

0.00

-0.00

0.0

4.2

—

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

0.00

-0.00

0.0

1.2

—

(3044927) Protein electrophoresis panel - Urine

0.00

-0.00

0.0

1.2

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.3

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(3021788) Differential panel - Synovial fluid

0.00

-0.00

0.0

1.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

-0.00

0.0

3.0

—

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

0.00

-0.00

0.0

1.7

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

-0.00

0.0

1.4

—

(3014973) Borrelia burgdorferi IgM Ab [Units/volume] 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

1.4

—

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