Colour vision deficiencies

H7_COULOURVISDEF

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 — H53.5 Hospital discharge: ICD-9 — 3685 Hospital discharge: ICD-8 — 37730 Cause of death: ICD-10 — H53.5 Cause of death: ICD-9 — 3685 Cause of death: ICD-8 — 37730 2 out of 7 registries used, show all original rules.	190
4. Check minimum number of events None	190
5. Include endpoints None	190
6. Filter based on genotype QC (FinnGen only)	170

Control definitions (FinnGen only)

Control exclude: H7_VISUALDISTBLIND

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: H53
Name in latin: Defectus visus colorum

NAME	H7_COULOURVISDEF
CONTROL_EXCLUDE	H7_VISUALDISTBLIND
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	H535
HD_ICD_9	3685
HD_ICD_8	37730
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	H535
COD_ICD_9	3685
COD_ICD_8	37730
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 Colour vision deficiencies based on the number of shared cases.

Similar with more cases:

Similar with less cases:

None

Case counts by codes

↥

FinnGen case counts by registry codes:

Upset plot

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	2974	310	2662
Only index persons	2874	297	2577
Unadjusted period prevalence (%)
Whole population	0.07	0.01	0.07
Only index persons	0.09	0.01	0.10
Median age at first event (years)
Whole population	16.77	34.44	14.70
Only index persons	16.73	34.17	14.72

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	170	42	128
Unadjusted period prevalence (%)	0.05	0.01	0.06
Median age at first event (years)	22.28	39.47	16.63

-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

↥

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
179: Matched controls
1790

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H53.5

ICD-10 Finland

Colour vision deficiencies

6736.7

222.7

167

XCW99

NOMESCO Finland

Other investigative procedure of eye

7.9

24.1

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

12.6

37730

ICD-8 Finland

Other diseases of retina and optic nerve, Achromatopsia

+∞

11.6

H53.1

ICD-10 Finland

Subjective visual disturbances

12.3

11.4

XCK00

NOMESCO Finland

Perimetry

11.7

11.1

CK2X4

NOMESCO Finland

Optical coherence tomography (OCT) of ocular fundus

4.7

7.4

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

+∞

7.3

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

3.55

4.43

2.1

—

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

3.47

4.29

2.3

2.5

—

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

8.31

4.10

1.0

1.1

182.75

240.50

mg/l

—

(3013707) Erythrocyte sedimentation rate [Velocity] in Red Blood Cells by Westergren method

122

969

1.81

3.36

5.7

4.1

8.62

9.27

mm/h

0.28

114

914

(3012568) Campylobacter sp identified in Specimen by Organism specific culture

4.93

3.28

1.0

1.8

—

(42868716) Shigella species+EIEC invasion plasmid antigen H ipaH gene [Presence] in Stool by NAA with probe detection

4.93

3.28

1.0

1.8

—

(3044290) Cell count panel - Cerebral spinal fluid

4.35

3.25

1.0

1.6

—

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

191

2.03

3.22

2.2

1.9

—

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

7.71

3.08

1.0

—

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

6.02

3.05

1.0

—

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

5.55

2.90

1.0

—

(3018010) Neutrophils/Leukocytes in Blood

694

1.67

2.88

8.7

7.4

55.29

56.49

0.40

669

(42870588) Differential panel, method unspecified - Blood

474

1.70

2.86

9.6

7.0

—

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

3.59

2.74

1.0

1.2

3.55

3.57

mmol/l

—

(3022096) Basophils/Leukocytes in Blood

673

1.64

2.71

9.0

7.8

0.77

0.66

1.30

641

(3019225) pH of Specimen

2.27

2.66

2.7

5.2

7.39

7.40

0.20

(3006504) Eosinophils/Leukocytes in Blood

678

1.62

2.59

9.0

7.6

3.17

2.80

0.68

643

(3002030) Lymphocytes/Leukocytes in Blood

708

1.62

2.56

8.9

7.5

29.28

28.93

0.12

681

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

3.35

2.56

1.1

1.4

375.80

509.94

mg/l

—

(3019069) Monocytes/Leukocytes in Blood

684

1.60

2.46

9.0

7.7

9.25

8.72

0.55

651

(3026008) Bacteria identified in Urine by Culture

275

1.74

2.42

3.4

2.9

—

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

6.39

2.38

1.0

—

(36304997) Mycobacterium tuberculosis stimulated gamma interferon release by CD4+ and CD8+ T-cells [Units/volume] in Blood

2.49

2.36

1.6

1.4

—

0.43

—

(3005988) Vibrio sp identified in Specimen by Organism specific culture

4.00

2.27

1.0

1.9

—

(3025468) Yersinia sp identified in Specimen by Organism specific culture

4.00

2.27

1.0

1.9

—

(21493466) Plesiomonas shigelloides DNA [Presence] in Stool by NAA with non-probe detection

4.00

2.27

1.0

1.9

—

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

200

1.80

2.22

1.4

1.7

398.74

467.38

pmol/l

1.17

169

(3024522) Salmonella sp identified in Specimen by Organism specific culture

3.79

2.17

1.0

1.8

—

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

261

1.69

2.09

3.0

3.7

599.21

1187.45

ng/l

1.72

211

(40768443) Skin Pathology biopsy report

2.60

2.05

1.1

1.3

—

(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

2.30

1.89

2.0

1.6

—

(3019198) Lymphocytes [#/volume] in Blood

762

1.49

1.88

8.5

7.7

1.88

1.92

e9/l

0.18

679

(40768804) Tissue Pathology biopsy report

443

1.53

1.88

1.6

1.9

—

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

817

1.47

1.78

11.2

10.8

3.99

4.06

e9/l

0.11

711

(3001604) Monocytes [#/volume] in Blood

739

1.47

1.77

8.6

7.6

0.61

0.57

e9/l

0.94

639

(3006315) Basophils [#/volume] in Blood

740

1.47

1.75

8.8

7.6

0.05

0.04

e9/l

1.15

640

(3015736) pH of Urine

562

1.47

1.70

3.5

3.1

5.77

6.23

3.43

314

(3051714) Fibrin D-dimer FEU [Mass/volume] in Platelet poor plasma

258

1.60

1.70

1.5

1.9

2.46

1.54

mg/l

0.30

198

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

2.52

1.67

1.1

1.4

—

(3032080) INR in Blood by Coagulation assay

499

1.48

1.66

15.1

8.2

1.27

1.15

inr

0.89

413

(3048929) Epstein Barr virus Ab [Presence] in Serum

115

1.83

1.60

1.2

1.4

—

(3013826) Glucose [Moles/volume] in Serum or Plasma

731

1.43

1.58

4.9

6.2

6.88

6.57

mmol/l

0.41

692

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

2.66

1.53

1.0

1.1

—

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

400

1.46

3.4

2.6

—

0.25

—

(3012516) Albumin [Mass/volume] in Urine

331

1.48

1.40

4.3

3.5

44.77

84.53

mg/l

0.81

234

(3013115) Eosinophils [#/volume] in Blood

766

1.38

1.33

9.4

8.1

0.22

0.18

e9/l

0.92

674

(3013512) EKG study

353

1.45

1.32

3.9

3.3

—

(3017918) Cytomegalovirus IgG Ab [Titer] in Serum or Plasma

2.15

1.30

1.0

1.6

—

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

117

1029

1.40

1.30

4.4

3.6

14.68

14.75

pmol/l

0.10

104

938

(3020682) Albumin/Creatinine [Ratio] in Urine

336

1.45

1.30

5.2

4.2

6.92

14.14

mg/mmol

0.95

229

(3037522) Nuclear Ab [Titer] in Serum

190

1.56

1.26

1.4

240.00

461.71

titre

—

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

139

1264

1.45

1.24

5.4

4.3

1.75

1.85

mu/l

0.66

133

1176

(3021589) Normoblasts [#/volume] in Blood

663

0.72

1.23

13.4

10.6

0.00

e9/l

0.52

531

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

136

1.62

1.15

2.1

1.7

—

(3012220) Varicella zoster virus IgM Ab [Presence] in Serum by Immunoassay

2.39

1.13

1.0

1.2

—

(3014148) Varicella zoster virus Ab [Titer] in Serum

2.39

1.13

1.0

1.2

—

(3015635) Cytomegalovirus IgM Ab [Units/volume] in Serum or Plasma

2.05

1.06

1.0

1.6

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.89

1.05

2.1

2.7

—

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

397

1.36

1.01

1.4

0.49

1.48

u/ml

1.42

100

(3025245) SCL-70 extractable nuclear Ab [Units/volume] in Serum by Immunoassay

2.21

0.98

1.0

1.1

—

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

203

1.45

0.95

1.4

1.2

20.01

7.29

u/ml

0.29

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

696

1.30

0.94

3.9

3.3

0.00

2.33

estimate

—

129

(3018095) Leukocytes [#/volume] in Urine

468

1.32

0.92

4.4

3.8

10.87

40.95

e6/l

2.04

323

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

293

1.38

0.92

2.9

3.1

350.03

357.10

umol/l

0.16

265

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

222

1.42

0.91

1.3

1.2

33.59

34.17

iu/ml

0.01

(3000494) Fungus identified in Specimen by Culture

153

1.50

0.91

1.9

1.8

—

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

585

1.29

0.88

6.6

9.1

1.22

1.21

mmol/l

0.42

514

(3021879) Hepatitis B virus core Ab [Presence] in Serum

192

1.41

0.81

1.2

1.5

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.67

0.80

1.1

1.2

—

(3010521) Mycoplasma pneumoniae IgM Ab [Presence] in Serum by Immunoassay

1.70

0.80

1.1

1.2

—

5.67

—

(3027944) Amphetamines [Presence] in Urine

219

0.66

0.79

1.6

1.8

—

(3023368) Bacteria identified in Blood by Culture

310

1.33

0.78

3.3

4.3

—

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

347

1.31

0.78

3.0

0.18

0.28

e6/l

0.58

258

(4198724) Urine methamphetamine measurement

0.00

0.78

0.0

2.1

—

(1761868) Lipid panel - Serum or Plasma

607

0.78

2.9

2.4

—

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

140

1309

1.32

0.78

3.9

3.4

1.34

1.28

mmol/l

0.43

134

1230

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

1.78

0.72

3.7

2.1

—

(3010566) Parathyrin.intact [Moles/volume] in Serum or Plasma

1.95

0.71

1.4

3.2

11.60

7.88

pmol/l

—

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

1.57

0.71

2.8

1.8

3.08

7.59

ug/l

2.03

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

1.60

0.70

2.2

2.9

68.28

66.52

g/l

0.43

(3022145) Colonoscopy Study observation

137

1.43

0.68

1.3

1.6

—

(3009508) Creatinine [Moles/volume] in Urine

458

1.26

0.67

4.6

3.3

8.83

9.24

mmol/l

0.25

400

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

152

1447

1.33

0.66

16.6

12.8

25.02

24.80

mg/l

0.02

126

1113

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

191

1.36

0.65

2.7

3.1

1.49

2.31

e6/l

—

(3027545) Mycoplasma pneumoniae Ab [Presence] in Serum by Immunoassay

1.59

0.61

1.1

1.4

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.60

0.0

1.0

—

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

426

1.24

0.59

3.7

3.3

15.73

23.38

ng/l

1.82

260

(3029511) Human papilloma virus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.59

0.0

1.9

—

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

687

1.21

0.59

4.0

3.3

0.00

estimate

-0.00

135

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.58

0.0

1.1

—

(3018572) Chloride [Moles/volume] in Blood

0.00

0.58

0.0

26.6

—

103.50

—

(3039000) Anion gap in Blood by calculation

0.00

0.58

0.0

26.6

—

12.00

—

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

1.46

0.58

2.1

1.6

1.30

1.08

g/l

0.42

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.69

0.57

2.3

2.1

—

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

681

1.20

0.55

3.9

3.3

0.00

estimate

-0.00

143

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

206

1.31

0.55

2.7

3.0

1.08

1.05

e6/l

0.02

106

(3000492) Spirometry study

188

1.32

0.55

2.0

1.4

—

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

317

1.25

0.54

1.8

1.6

15.54

19.28

nmol/l

1.00

279

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

1.48

0.54

2.3

1.6

—

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

0.61

0.53

2.0

4.6

23.83

24.36

mmol/l

—

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

281

1.26

0.53

3.7

2.5

—

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

131

1238

1.22

0.52

4.5

3.8

5.87

5.78

mmol/l

0.30

121

1149

(3002582) Erythrocytes [#/volume] in Urine

405

1.22

0.50

3.2

3.1

70.52

39.53

e6/l

0.21

313

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

1.41

0.47

1.1

1.8

—

(40761535) Cells panel - Urine sediment

0.61

0.47

2.8

3.4

—

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

163

0.72

0.46

2.5

—

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

478

1.19

0.44

2.1

2.3

—

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

430

1.19

0.44

3.2

—

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

145

1392

1.22

0.44

4.4

3.9

1.30

1.36

mmol/l

0.94

140

1319

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

383

1.20

0.43

2.3

2.5

—

(3007853) Bacteria identified in Skin by Aerobe culture

159

1.29

0.42

4.3

1.7

—

(3028334) Neisseria gonorrhoeae [Presence] in Specimen by Organism specific culture

0.00

0.41

0.0

1.5

—

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

0.00

0.41

0.0

1.6

—

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

0.00

0.41

0.0

2.0

—

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

0.00

0.41

0.0

2.0

—

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

0.00

0.41

0.0

2.0

—

(3045716) Anion gap in Serum or Plasma by calculation

0.00

0.41

0.0

1.8

—

10.56

—

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

103

0.67

0.41

1.4

2.0

—

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

146

1406

1.21

0.40

4.7

4.3

2.72

2.79

mmol/l

0.42

139

1332

(3027529) Toxoplasma gondii IgM Ab [Units/volume] in Serum

0.00

0.40

0.0

1.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

319

1.20

0.40

1.3

1.6

—

(21494815) CD4 cells/Lymphocytes in Specimen

0.00

0.39

0.0

2.7

—

35.44

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.39

0.0

2.4

—

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

191

0.77

0.39

2.5

—

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

282

1.21

0.39

5.6

3.8

20.99

23.38

0.32

117

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

134

1.30

0.38

2.3

1.7

—

(3044640) Blood type and Crossmatch panel - Blood

388

1.18

0.37

2.6

2.4

—

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

145

1399

1.19

0.37

4.5

4.0

4.49

4.59

mmol/l

0.67

140

1334

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

495

1.16

0.36

2.2

1.9

107.30

97.67

pmol/l

0.67

275

(4010399) Spirometry for bronchospasm with prolonged evaluation after bronchodilator

1.34

0.36

1.5

1.3

—

(3014007) Fractional oxyhemoglobin in Arterial blood

1.39

0.35

8.3

18.8

90.16

93.43

—

(3042936) Bacteria identified in Isolate by Culture

182

1.24

0.35

1.9

2.2

—

(3015235) Bicarbonate [Moles/volume] in Capillary blood

1.31

0.33

4.3

2.3

25.78

23.86

mmol/l

—

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

212

1.21

0.32

2.6

0.84

0.72

ug/l

0.43

118

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

0.70

0.31

1.0

1.1

—

(3022313) Gas panel - Capillary blood

1.35

0.31

3.0

4.2

—

(3021337) Troponin I.cardiac [Mass/volume] in Serum or Plasma

242

1.19

0.30

3.5

3.3

513.21

465.10

ng/l

0.03

163

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

415

1.15

0.30

2.3

2.6

—

(3044889) 12 lead EKG panel

868

0.90

0.26

4.1

3.1

—

(3023323) Follitropin [Units/volume] in Serum or Plasma

0.68

0.26

1.6

1.7

50.96

13.83

iu/l

—

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

554

0.89

0.26

2.0

1.8

1.34

1.41

mmol/l

0.28

492

(40760892) CBC W Ordered Manual Differential panel - Blood

348

0.87

0.25

3.0

5.3

—

(4035726) Immunohistochemistry procedure

1.21

0.25

1.2

1.5

—

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

362

1.14

0.25

1.4

1.5

2.46

2.24

g/l

0.56

228

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

441

1.12

0.24

1.7

—

(46237023) Hepatitis B virus core and surface Ab and surface Ag panel - Serum

0.74

0.23

1.1

1.4

—

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

1.20

0.21

2.2

1.7

—

(3015171) Extractable nuclear Ab [Units/volume] in Serum

1.20

0.21

1.0

1.2

—

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

0.00

0.21

0.0

2.5

—

1.54

—

(3036603) Volume of Urine

0.00

0.21

0.0

2.2

—

1655.45

—

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

0.00

0.21

0.0

1.2

—

117.55

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

0.21

0.0

1.4

—

(3048469) 10-Hydroxycarbazepine [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

3.1

—

50.60

—

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

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

1.5

—

(40768795) Lymph node Pathology biopsy report

0.00

0.21

0.0

1.6

—

(3045788) Cell count panel - Pleural fluid

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

2.1

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

2.1

—

(3028679) Herpes simplex virus Ab [Presence] in Serum

0.00

0.21

0.0

1.0

—

(3021125) Hepatitis C virus RNA [Presence] in Serum or Plasma by NAA with probe detection

0.00

0.21

0.0

1.6

—

(40765089) Chromosome analysis panel - Blood by G-banded

0.00

0.21

0.0

1.0

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

4.12

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

2.0

—

11.78

—

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

533

1.10

0.20

2.8

—

estimate

—

(3048821) Cortisol [Moles/volume] in Serum or Plasma --post 1 mg dexamethasone PO overnight

0.00

0.20

0.0

1.1

—

(3028300) Cannabinoids [Presence] in Urine

217

0.86

0.20

3.5

1.8

—

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

1.16

0.19

2.0

3.2

89.50

93.85

—

(3018418) pH of Serum or Plasma

351

0.89

0.19

4.5

3.9

7.40

7.39

0.38

242

(3001334) Neutrophil cytoplasmic Ab [Units/volume] in Serum

1.14

0.19

2.2

1.3

—

(3027008) Opiates [Presence] in Urine

216

0.87

0.19

3.5

1.8

—

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

409

1.10

0.18

1.3

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

215

0.87

0.18

3.5

1.9

—

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

1.13

0.17

5.9

24.6

16.16

16.58

—

(3021584) Pregnancy associated plasma protein A [Units/volume] in Serum or Plasma

0.71

0.17

2.0

1.6

623.52

959.39

mu/l

—

(3011960) Natriuretic peptide B [Mass/volume] in Serum or Plasma

1.15

0.16

2.4

2.5

103.62

145.36

ng/l

—

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

521

0.92

0.16

3.7

3.2

0.00

0.01

estimate

—

120

(3019150) Specific gravity of Urine by Refractometry

327

0.90

0.16

2.3

3.2

1.02

kg/l

0.08

205

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

111

1.18

0.16

6.5

6.3

—

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

530

1.08

0.15

4.8

5.5

37.07

37.49

g/l

0.19

506

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

344

1.10

0.15

1.8

1.7

—

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

160

1.14

0.14

1.9

1.7

1125.58

1137.97

nmol/l

0.02

125

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.81

0.14

1.1

1.24

1.50

g/l

—

(1002224) Polysomnography panel

0.81

0.14

1.0

1.1

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.80

0.14

1.1

0.85

0.93

g/l

—

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

105

0.85

0.13

1.0

1.8

—

(3012544) pH of Venous blood

148

0.87

0.13

3.2

4.8

7.39

7.38

—

(21494755) Public health laboratory ask at order entry panel

239

0.91

0.11

1.2

1.3

—

(3041096) Erythrocytes [Presence] in Urine by Automated

409

1.07

0.10

3.5

2.7

0.00

0.22

estimate

—

113

(4024509) Urine culture

1.11

0.10

3.4

1.6

—

(36660697) Celiac disease serology panel - Serum

134

0.89

0.09

1.2

1.1

—

(3046279) Procalcitonin [Mass/volume] in Serum or Plasma

1.11

0.09

2.3

0.39

6.01

ug/l

—

(3002256) Pathology report gross observation

136

1.11

0.09

1.1

1.2

—

(3007566) Smooth muscle Ab [Titer] in Serum

1.05

0.08

1.5

1.4

—

86.25

—

(3025941) Bacteria identified in Stool by Culture

1.08

0.07

1.3

1.2

—

(40761536) Microorganisms panel - Urine sediment

100

0.89

0.06

5.7

3.1

—

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

100

1.11

0.05

6.8

10.7

24.91

24.96

mmol/l

0.03

100

(3002173) Hemoglobin [Mass/volume] in Arterial blood

110

1.10

0.05

7.6

16.4

116.42

126.43

g/l

0.77

105

(3016879) Cocaine [Presence] in Urine

201

0.94

0.05

3.4

1.9

—

(3019832) Treponema pallidum Ab [Presence] in Serum

260

1.05

0.03

1.8

2.1

—

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

124

1251

0.97

0.03

3.6

3.4

—

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

118

0.93

0.03

1.4

—

(3000991) Gas panel - Venous blood

127

0.94

0.01

7.8

13.2

—

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

167

0.95

0.01

3.8

2.0

—

(3026782) Osmolality of Urine

243

1.03

0.01

3.9

2.6

549.35

549.38

mosm/kgh2o

0.00

209

(3013742) Prealbumin [Mass/volume] in Serum or Plasma

116

0.94

0.01

1.5

3.0

0.23

0.22

g/l

0.19

106

(3027945) Reticulocytes/Erythrocytes in Blood

129

1.01

0.00

2.2

3.9

1.62

1.81

0.50

119

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

135

1346

1.01

0.00

14.4

11.6

95.25

94.94

ml/min/173m2

0.05

119

1198

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

349

1.00

0.00

3.6

3.4

0.00

0.01

estimate

0.50

127

(3011288) Drugs identified in Urine by Screen method Nominal

137

1.02

0.00

6.1

2.5

—

(40768797) Stomach Pathology biopsy report

143

0.98

0.00

1.4

1.2

—

(40758558) Short blood count panel - Blood

403

0.99

0.00

8.9

6.8

—

(40761511) CBC panel - Blood by Automated count

152

1515

1.02

0.00

11.6

10.3

—

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

292

0.99

0.00

1.8

1.7

—

(3016502) Oxygen saturation in Arterial blood

115

1.05

0.00

7.2

17.7

92.14

95.61

0.33

107

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.0

—

16.68

—

(3044212) Herpes simplex virus 1+2 IgM Ab [Presence] in Cerebral spinal fluid

0.00

0.0

1.0

—

(40761849) Varicella zoster virus IgG Ab [Units/volume] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.0

—

(3016436) Lactate dehydrogenase [Enzymatic activity/volume] in Serum or Plasma

0.00

0.0

6.2

—

193.83

—

(3023659) Complement C1 esterase inhibitor.functional/Complement C1 esterase inhibitor.total in Serum or Plasma

0.00

0.0

1.0

—

105.17

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.5

—

(3004451) EKG impression Narrative

0.00

0.0

1.3

—

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

0.00

0.0

1.0

—

(37020300) Entamoeba histolytica DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(40764127) Haemophilus influenzae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

2.7

—

(42868421) Varicella zoster virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.0

—

(42868766) Dientamoeba fragilis DNA [Presence] in Stool by NAA with probe detection

0.00

0.0

1.0

—

(3015024) Glucose [Moles/volume] in Serum or Plasma --1 hour post dose glucose

0.00

-0.00

0.0

1.9

—

7.30

—

(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk

0.00

-0.00

0.0

1.0

—

10.05

—

(3011841) English Walnut IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

0.22

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3008898) HLA-B27 [Presence]

0.96

-0.00

1.0

1.1

—

(3016038) Potassium [Moles/volume] in Urine

0.00

-0.00

0.0

1.8

—

42.48

—

(3002621) Streptococcal DNAse B [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

(3019601) Blood group antibody investigation [Interpretation] in Plasma or RBC

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.2

—

17.00

—

(3013527) Hepatitis B virus core IgM Ab [Presence] in Serum

0.96

-0.00

1.1

1.3

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.3

—

4.78

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

0.00

-0.00

0.0

1.0

—

44.13

—

(3022689) Creatine [Moles/volume] in Urine

0.00

-0.00

0.0

1.0

—

24.44

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.3

—

9.99

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

10.44

—

(3037875) Bordetella parapertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.4

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

6.7

—

(42869457) Rotavirus RNA [Identifier] in Stool by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(37020445) Astrovirus RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(37021247) Adenovirus 40+41 DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(3002823) Mycoplasma pneumoniae IgG Ab [Units/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

238.84

—

(37020957) Sapovirus genogroups I+II+IV+V RNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

2.2

—

(3003101) Alpha 1 antitrypsin [Mass/mass] in Stool

0.00

-0.00

0.0

2.8

—

152.00

—

(3006576) Bicarbonate [Moles/volume] in Blood

0.00

-0.00

0.0

6.6

—

24.40

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.3

—

(21494814) CD8 cells/Lymphocytes in Specimen

0.00

-0.00

0.0

2.0

—

26.71

—

(3010254) Herpes simplex virus identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(40760109) Toxoplasma gondii IgG Ab avidity [Ratio] in Serum by Immunoassay

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

0.69

—

(3037677) Mycoplasma pneumoniae IgM Ab [Titer] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

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

0.86

-0.00

6.0

4.9

52.44

54.15

—

(3013566) Clostridioides difficile [Presence] in Stool by Organism specific culture

0.00

-0.00

0.0

1.2

—

(3020650) Glucose [Presence] in Urine

0.00

-0.00

0.0

1.2

—

0.00

—

(3032699) Streptococcus pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.7

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3012565) Volume of 24 hour Urine

0.00

-0.00

0.0

2.6

—

2230.00

—

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

0.93

-0.00

6.6

2.4

—

(4133840) Spirometry

0.00

-0.00

0.0

1.1

—

(3023601) Vancomycin resistant enterococcus [Presence] in Specimen by Organism specific culture

0.00

-0.00

0.0

3.9

—

(3017817) Protein [Mass] in Urine collected for unspecified duration

0.00

-0.00

0.0

7.6

—

788.00

—

(3016724) Homocysteine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.8

—

9.25

—

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

0.00

-0.00

0.0

2.3

—

(3007847) Interleukin 2 Receptor Soluble [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

2.0

—

1041.25

—

(40768806) Pleura Pathology biopsy report

0.00

-0.00

0.0

2.0

—

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

0.00

-0.00

0.0

2.3

—

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

0.00

-0.00

0.0

1.9

—

(3044242) Glucose [Moles/volume] in Arterial blood

0.00

-0.00

0.0

1.5

—

6.90

—

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

0.00

-0.00

0.0

1.8

—

(40764126) Parainfluenza virus RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.5

—

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

0.00

-0.00

0.0

4.4

—

1.13

—

(3006270) Folate [Moles/volume] in Blood

0.00

-0.00

0.0

1.3

—

428.50

—

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

0.00

-0.00

0.0

2.3

—

(3017704) Immunofixation for Urine

0.00

-0.00

0.0

1.0

—

(3000208) Alpha tocopherol [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

3.3

—

22.38

—

Mortality – FinRegistry

↥

Association

Association between endpoint H7_COULOURVISDEF and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
H7_COULOURVISDEF	1.125 [0.78, 1.63]	0.534
Birth year	0.987 [0.98, 1.0]	0.006

During the follow-up period (1.1.1998 — 31.12.2019), 53 out of 2375 males with H7_COULOURVISDEF died.

Mortality risk

Mortality risk for people of age

years, who have H7_COULOURVISDEF.

N-year risk	Females	Males
1	No data	0.258%
5	No data	1.258%
10	No data	3.145%
15	No data	6.123%
20	No data	10.506%

Relationships between endpoints

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Index endpoint: H7_COULOURVISDEF – Colour vision deficiencies

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

Colour vision deficiencies

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