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	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 — 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.	176
4. Check minimum number of events None	176
5. Include endpoints None	176
6. Filter based on genotype QC (FinnGen only)	167

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	167	40	127
Unadjusted period prevalence (%)	0.05	0.01	0.06
Median age at first event (years)	22.09	39.47	16.61

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

No data

CodeWAS

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

Matched cohort

Matched cases
176: Matched controls
1760

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H53.5

ICD-10 Finland

Colour vision deficiencies

6506.6

218.5

164

XCW99

NOMESCO Finland

Other investigative procedure of eye

7.8

23.2

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

12.6

37730

ICD-8 Finland

Other diseases of retina and optic nerve, Achromatopsia

+∞

11.6

XCK00

NOMESCO Finland

Perimetry

11.7

11.1

H53.1

ICD-10 Finland

Subjective visual disturbances

15.5

10.7

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

(3028772) Osteocalcin [Mass/volume] in Serum or Plasma

11.89

4.83

3.4

2.4

32902.75

51629.29

ug/l

—

(3013707) Erythrocyte sedimentation rate by Westergren method

113

872

1.83

3.55

5.3

3.8

8.16

9.48

mm/h

0.73

103

818

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

3.18

3.32

2.1

2.0

—

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

3.04

3.10

2.4

—

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

8.53

2.76

1.0

—

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

6.17

2.72

1.0

—

(3019225) pH of Specimen

2.33

2.68

2.3

5.3

—

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

5.60

2.56

1.0

—

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

161

1.96

2.55

2.2

1.8

—

(3037467) Urinalysis macro (dipstick) panel - Urine

780

1.62

2.50

5.3

3.5

—

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

4.51

2.50

1.0

2.0

—

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

4.51

2.50

1.0

2.0

—

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

4.51

2.50

1.0

2.0

—

(3012516) Albumin [Mass/volume] in Urine

259

1.76

2.41

3.3

3.2

3134.38

114.21

mg/l

0.76

183

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

6.39

2.38

1.0

—

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

4.24

2.38

1.0

1.9

—

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

4.24

2.38

1.0

1.9

—

(3044290) Cell count panel - Cerebral spinal fluid

4.00

2.27

1.0

1.4

—

(3026008) Bacteria identified in Urine by Culture

240

1.74

2.23

3.3

2.8

—

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

219

1.75

2.12

2.3

3.5

836.80

1207.09

ng/l

0.50

180

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

645

1.54

2.11

3.7

5.3

7.04

6.61

mmol/l

0.59

597

(3022096) Basophils/100 leukocytes in Blood

589

1.55

2.10

8.2

7.2

0.82

0.65

2.02

559

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

5.11

2.08

1.0

1.1

184.80

240.50

mg/l

—

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

2.05

2.04

1.2

1.5

—

(3018010) Neutrophils/100 leukocytes in Blood

635

1.51

1.93

8.2

6.5

54.89

56.58

0.61

605

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

3.27

1.90

1.0

1.2

3.51

3.59

mmol/l

—

(3002030) Lymphocytes/100 leukocytes in Blood

647

1.50

1.89

8.1

6.7

29.77

29.09

0.24

616

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

179

1.74

1.84

1.4

1.8

414.14

485.33

pmol/l

1.11

153

(3006504) Eosinophils/100 leukocytes in Blood

612

1.49

1.83

8.4

6.9

3.16

2.84

0.56

578

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

3.13

1.82

1.1

1.3

383.29

487.13

mg/l

—

(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

2.38

1.74

2.0

1.7

—

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

183

1.70

1.71

1.2

36.02

33.38

iu/ml

—

(3019069) Monocytes/100 leukocytes in Blood

619

1.47

1.70

8.7

7.2

8.87

8.53

0.24

587

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

745

1.46

1.69

10.4

9.7

3.99

4.11

e9/l

0.23

650

(3020682) Albumin/Creatinine [Ratio] in Urine

276

1.58

1.67

4.1

3.8

5.86

16.82

mg/mmol

1.26

188

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

2.87

1.67

1.0

1.6

—

(3001604) Monocytes [#/volume] in Blood

644

1.44

1.60

7.9

6.9

0.60

0.58

e9/l

0.45

561

(3019198) Lymphocytes [#/volume] in Blood

673

1.44

1.59

7.8

6.9

1.90

1.89

e9/l

0.04

604

(3006315) Basophils [#/volume] in Blood

645

1.44

1.58

8.1

6.9

0.05

0.04

e9/l

1.10

562

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

107

914

1.44

1.52

7.5

7.0

78.89

77.79

u/l

0.09

101

860

(40760892) CBC W Ordered Manual Differential panel - Blood

612

1.43

1.49

7.7

6.9

—

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

2.44

1.48

1.0

1.7

—

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

2.32

1.42

1.0

1.7

—

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

3.00

1.37

1.0

1.9

—

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

2.20

1.36

1.8

1.5

—

0.43

—

(3013512) EKG study

263

1.52

1.36

4.0

3.6

—

(3009508) Creatinine [Moles/volume] in Urine

370

1.45

1.34

3.6

2.9

9.24

9.36

mmol/l

0.06

327

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

231

1.53

1.30

1.3

1.9

1.05

1.33

mg/l

0.26

175

(40768804) Tissue Pathology biopsy report

400

1.43

1.29

1.6

1.9

—

(3022217) INR in Platelet poor plasma by Coagulation assay

446

1.41

1.28

14.7

8.1

1.45

1.18

inr

0.78

145

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

173

1.59

1.27

1.3

1.2

27.01

5.87

u/ml

—

(3021589) Normoblasts [#/volume] in Blood

591

0.70

1.26

12.4

8.6

0.00

e9/l

0.50

469

(3013115) Eosinophils [#/volume] in Blood

665

1.37

1.25

8.6

7.4

0.20

0.18

e9/l

0.53

591

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

261

1.48

1.21

2.5

3.0

347.87

2111.78

umol/l

0.50

234

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

126

1131

1.40

1.20

5.0

3.8

1.74

1.90

mu/l

1.17

120

1048

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

2.35

1.19

1.0

1.2

—

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

2.35

1.19

1.0

1.2

—

(3052851) Hemolysis interference index of Serum or Plasma

2.35

1.19

1.5

2.7

—

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

145

1338

1.48

1.15

13.8

11.3

24.39

23.74

mg/l

0.06

112

970

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

501

1.37

1.14

5.1

8.0

1.23

1.21

mmol/l

0.99

432

(3004588) Protein electrophoresis panel - Serum or Plasma

2.02

1.13

1.3

2.5

—

(40768443) Skin Pathology biopsy report

2.05

1.13

1.0

1.3

—

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

104

912

1.34

1.11

4.2

3.2

14.82

14.74

pmol/l

0.10

821

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

1.75

1.05

1.9

1.6

1.30

1.05

g/l

0.54

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

133

1216

1.38

1.05

3.5

3.1

1.34

1.29

mmol/l

0.30

128

1139

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

2.10

1.04

1.4

2.0

—

(3027944) Amphetamines [Presence] in Urine

186

0.56

1.03

1.8

1.7

—

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

379

1.37

1.01

1.8

106.82

96.88

pmol/l

0.58

202

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

345

1.37

0.96

1.3

0.57

0.93

u/ml

—

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

137

0.56

0.87

2.3

2.2

—

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

1.86

0.87

1.1

1.2

—

(3018095) Leukocytes [#/volume] in Urine

388

1.33

0.86

4.0

3.5

9.40

44.14

e6/l

2.01

274

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

1.97

0.85

3.2

2.0

—

(3023368) Bacteria identified in Blood by Culture

261

1.38

0.85

3.0

4.2

—

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

1.74

0.84

1.5

2.9

69.95

66.05

g/l

1.23

(3000492) Spirometry study

157

1.46

0.81

1.8

1.3

—

(3016502) Oxygen saturation in Arterial blood

0.51

0.81

7.8

15.0

96.04

95.68

—

(3007844) Epstein Barr virus capsid IgM Ab [Units/volume] in Serum by Immunoassay

1.70

0.80

1.3

1.5

—

(3036180) Methadone [Presence] in Urine

0.00

0.80

0.0

1.8

—

(1616796) Gas panel - Central venous blood

0.00

0.79

0.0

2.7

—

(3009542) Hematocrit [Volume Fraction] of Blood

164

1576

1.60

0.79

18.6

15.8

42.15

42.02

0.11

159

1490

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

1.74

0.71

1.1

1.4

—

(3045414) Leukocytes [Presence] in Urine

1.74

0.71

1.0

1.6

—

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

167

0.64

0.70

2.2

—

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

124

1150

1.26

0.70

4.0

3.4

5.80

5.77

mmol/l

0.08

114

1057

(3000330) Specific gravity of Urine by Test strip

1.69

0.69

6.9

4.0

—

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

103

1.50

0.67

2.2

1.6

—

(3007853) Bacteria identified in Skin by Aerobe culture

129

1.44

0.66

4.7

1.7

—

(3042936) Bacteria identified in Isolate by Culture

156

1.39

0.64

1.8

2.2

—

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

1.56

0.64

2.5

1.7

3.19

7.50

ug/l

1.78

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

366

1.27

0.64

3.6

3.2

15.13

25.17

ng/l

2.20

218

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

246

1.32

0.64

3.1

2.3

—

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

568

1.23

0.62

3.6

3.1

0.00

estimate

—

105

(1761868) Lipid panel - Serum or Plasma

487

0.79

0.60

2.8

2.1

—

(3018572) Chloride [Moles/volume] in Blood

0.00

0.59

0.0

27.7

—

103.59

—

(3039000) Anion gap in Blood

0.00

0.59

0.0

27.7

—

11.94

—

(3015399) Transferrin receptor.soluble [Mass/volume] in Serum or Plasma

258

1.29

0.59

1.7

2.3

2.53

2.72

mg/l

0.24

225

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

0.00

0.58

0.0

1.1

—

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

0.56

0.58

7.8

13.7

113.20

128.41

g/l

—

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

563

1.21

0.57

5.5

4.4

0.00

estimate

—

116

(3044640) Blood type and Crossmatch panel - Blood

335

1.25

0.55

2.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.53

0.55

1.0

1.2

—

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

298

1.26

0.55

2.7

2.9

0.17

0.27

e6/l

0.50

232

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

170

1.34

0.55

1.2

1.5

—

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

478

1.22

0.55

2.3

2.6

—

(3022313) Gas panel - Capillary blood

1.41

0.51

3.1

4.2

—

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

559

1.20

0.50

3.5

3.1

0.00

estimate

—

116

(4200892) Spirometry reversibility

1.48

0.49

1.4

1.3

—

(3002582) Erythrocytes [#/volume] in Urine

334

1.22

0.45

3.2

2.9

80.43

41.08

e6/l

0.23

265

(4094501) Cardiovascular stress test using bicycle ergometer

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.6

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.41

0.0

1.0

—

(3000991) Gas panel - Venous blood

102

0.67

0.41

5.4

9.8

—

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

0.00

0.41

0.0

2.4

—

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

0.00

0.41

0.0

1.9

—

(3020565) Legionella pneumophila DNA [Presence] in Specimen by NAA with probe detection

0.00

0.41

0.0

2.1

—

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

134

1282

1.19

0.40

4.0

3.6

2.77

2.82

mmol/l

0.24

127

1201

(3000494) Fungus identified in Specimen by Culture

133

1.31

0.40

1.6

1.8

—

(21494815) CD4 cells/100 lymphocytes in Specimen

0.00

0.40

0.0

2.7

—

33.91

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.44

0.39

2.6

2.1

—

(3012477) Bordetella pertussis DNA [Presence] in Specimen by NAA with probe detection

0.00

0.39

0.0

2.1

—

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

378

1.18

0.38

2.9

3.0

—

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

1.38

0.37

1.1

1.7

—

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

108

1.32

0.36

2.3

1.7

—

(40761535) Cells panel - Urine sediment

0.63

0.36

2.8

3.4

—

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

1.48

0.36

1.3

1.7

—

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

163

1.26

0.36

2.8

2.9

1.68

2.28

e6/l

—

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

173

1.24

0.35

2.7

1.19

1.04

e6/l

—

(3028300) Cannabinoids [Presence] in Urine

187

0.78

0.34

4.1

1.6

—

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

0.66

0.33

1.0

—

(3007566) Smooth muscle Ab [Titer] in Serum

1.31

0.33

1.3

1.4

—

50.00

—

(3027008) Opiates [Presence] in Urine

186

0.79

0.33

4.0

1.7

—

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

1.36

0.31

2.6

1.6

—

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

100

0.69

0.31

1.4

2.0

—

(40758558) Short blood count panel - Blood

322

0.84

0.30

11.5

7.0

—

(3000764) Benzodiazepines [Presence] in Urine

184

0.80

0.30

4.0

1.8

—

(36660697) Celiac disease serology panel - Serum

116

0.76

0.28

1.3

1.1

—

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

288

0.85

0.28

3.4

3.3

0.00

0.01

estimate

—

109

(3022621) pH of Urine by Test strip

1.24

0.27

3.0

2.0

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.22

0.27

1.0

1.2

—

(3022145) Colonoscopy Study observation

123

1.24

0.26

1.3

1.5

—

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

323

1.14

0.25

2.2

2.4

—

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

0.72

0.24

1.2

1.3

—

(36304419) Bacteria [Presence] in Urine

295

1.15

0.24

2.7

2.8

—

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

146

0.81

0.23

1.4

1.5

—

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

0.74

0.23

1.0

1.8

—

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

107

1.23

0.22

6.4

6.3

—

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

211

1.16

0.22

3.2

569.65

414.29

ng/l

0.10

143

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

0.00

0.21

0.0

1.5

—

4.02

—

(3004915) Chlamydophila pneumoniae IgA Ab [Units/volume] in Serum

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.9

—

11.65

—

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

0.00

0.21

0.0

2.8

—

47.36

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

(3000012) Reticulocyte production index

0.00

0.21

0.0

1.3

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

0.21

0.0

1.3

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.21

0.0

1.3

—

32.80

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.0

—

(3011648) Oxygen content in Venous blood

0.00

0.21

0.0

3.8

—

12.78

—

(21494670) JAK2 gene exon 14 targeted mutation analysis in Blood or Tissue by Molecular genetics method

0.00

0.21

0.0

1.1

—

(3009343) pH of Capillary blood

1.27

0.21

2.9

3.9

—

7.42

—

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

435

0.90

0.21

3.8

3.2

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.4

—

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

0.00

0.20

0.0

1.1

—

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

0.00

0.20

0.0

2.1

—

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

0.00

0.20

0.0

2.1

—

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

0.00

0.20

0.0

2.1

—

(40761511) CBC panel - Blood by Automated count

140

1431

0.89

0.19

11.2

9.5

—

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

1.14

0.19

1.2

1.3

—

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

125

1216

1.10

0.18

11.0

9.9

94.88

95.10

ml/min/173m2

0.03

951

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

142

0.83

0.18

4.6

1.9

—

(3016879) Cocaine [Presence] in Urine

173

0.85

0.17

3.9

1.8

—

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

254

1.12

0.17

5.9

3.6

22.43

22.75

0.03

106

(21494755) Public health laboratory ask at order entry panel

235

0.88

0.17

1.2

1.3

—

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

158

1.16

0.17

1.9

1.7

1125.58

1144.34

nmol/l

0.02

124

(4035726) Immunohistochemistry procedure

1.17

0.16

1.3

1.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

265

1.11

0.16

1.3

1.5

—

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

0.77

0.16

6.0

5.1

24.83

24.64

mmol/l

—

(3011288) Drugs identified in Urine by Screen method

119

0.83

0.16

8.1

2.2

—

(3023024) Carbon dioxide [Partial pressure] in Capillary blood

1.22

0.16

3.0

3.9

5.21

5.02

kpa

—

(3025941) Bacteria identified in Stool by Culture

1.13

0.15

1.3

1.2

—

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

354

1.09

0.15

1.2

1.4

—

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

315

1.10

0.15

1.3

1.4

2.58

2.24

g/l

0.91

201

(3048689) Calprotectin [Mass/mass] in Stool

218

1.12

0.14

2.7

3.0

160.95

184.56

ug/g

0.09

176

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

119

1217

0.93

0.13

3.6

3.4

—

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

388

1.07

0.11

1.7

—

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

1.10

0.08

2.4

2.1

113.14

145.67

ng/l

—

(3041096) Erythrocytes [Presence] in Urine by Automated

334

1.06

0.07

3.6

2.8

—

(3008898) HLA-B27 [Presence]

1.03

0.07

1.0

1.1

—

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

428

1.04

0.04

2.0

2.1

—

(3027945) Reticulocytes/100 erythrocytes in Blood

109

0.91

0.04

2.1

3.7

1.70

1.78

—

100

(40768797) Stomach Pathology biopsy report

127

0.94

0.01

1.3

1.2

—

(3002256) Pathology report gross observation

116

0.94

0.01

1.1

1.2

—

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

306

0.98

0.00

1.8

1.6

—

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

106

1.04

0.00

1.4

1.3

—

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

261

1.00

0.00

1.8

1.6

—

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

233

0.99

0.00

3.3

3.2

—

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

357

1.01

0.00

2.4

2.5

—

(3018418) pH of Serum or Plasma

295

0.98

0.00

3.8

3.7

7.40

—

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

455

0.99

0.00

4.5

5.2

37.89

37.26

g/l

0.29

431

(3044889) 12 lead EKG panel

765

1.01

0.00

3.7

2.8

—

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

185

1.03

0.00

2.7

2.5

0.93

0.70

ug/l

0.80

108

(3019832) Treponema pallidum Ab [Presence] in Serum

225

0.97

0.00

1.6

1.9

—

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

105

1.05

0.00

1.1

1.3

—

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

0.00

0.0

1.7

—

1040.25

—

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

0.00

0.0

4.4

—

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

0.00

0.0

2.3

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.9

—

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

0.00

0.0

1.5

—

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

0.00

0.0

3.0

—

22.38

—

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

0.00

0.0

2.3

—

(3036603) Volume of Urine

0.00

0.0

1.4

—

1563.75

—

(3006270) Folate [Moles/volume] in Blood

0.00

0.0

1.3

—

428.50

—

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

0.00

0.0

2.3

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.4

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

1.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

9.25

—

(3016038) Potassium [Moles/volume] in Urine

0.00

0.0

1.6

—

43.66

—

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

0.00

0.0

1.1

—

223.33

—

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

0.98

-0.00

6.0

4.2

52.44

55.23

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.2

—

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

0.00

-0.00

0.0

1.4

—

91.80

—

(3032868) Hemoglobin electrophoresis panel in Blood

0.00

-0.00

0.0

1.8

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.0

—

0.22

—

(3006576) Bicarbonate [Moles/volume] in Blood

0.00

-0.00

0.0

6.6

—

24.40

—

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

0.00

-0.00

0.0

2.6

—

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

0.96

-0.00

1.6

3.0

0.23

0.22

g/l

—

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

0.00

-0.00

0.0

3.4

—

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

0.00

-0.00

0.0

1.0

—

(3020073) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Specimen

0.00

-0.00

0.0

2.4

—

(3025130) Human papilloma virus identified in Specimen

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

(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

—

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

0.00

-0.00

0.0

1.0

—

(3021236) Streptolysin O Ab [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

1.1

—

134.89

—

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

0.00

-0.00

0.0

7.2

—

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

0.00

-0.00

0.0

1.2

—

0.69

—

(3035880) pH of Pleural fluid

0.00

-0.00

0.0

1.0

—

(3012441) Differential panel - Pleural fluid

0.00

-0.00

0.0

1.4

—

(3017569) Oxygen content in Arterial blood

0.00

-0.00

0.0

2.2

—

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

0.00

-0.00

0.0

2.7

—

1.48

—

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

0.00

-0.00

0.0

1.3

—

(40761536) Microorganisms panel - Urine sediment

0.91

-0.00

4.9

3.2

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

2.1

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

2.6

—

(3012565) Volume of 24 hour Urine

0.00

-0.00

0.0

2.2

—

2300.00

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

2.2

—

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

0.89

-0.00

7.1

2.2

—

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

0.00

-0.00

0.0

1.9

—

7.30

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.2

—

(3045716) Anion gap in Serum or Plasma

0.00

-0.00

0.0

2.0

—

8.60

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.7

—

(1001833) Epstein Barr virus DNA [Units/volume] (viral load) in Blood by NAA with probe detection

0.00

-0.00

0.0

7.6

—

(3004451) EKG impression Narrative

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(3045788) Cell count panel - Pleural fluid

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.5

—

(3020650) Glucose [Presence] in Urine

0.00

-0.00

0.0

1.0

—

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

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

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

-0.00

0.0

6.3

—

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

0.00

-0.00

0.0

1.0

—

105.17

—

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

0.00

-0.00

0.0

6.0

—

193.83

—

(3017704) Immunofixation for Urine

0.00

-0.00

0.0

1.0

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.5

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

2.5

—

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

0.00

-0.00

0.0

1.0

—

(21494814) CD8 cells/100 lymphocytes in Specimen

0.00

-0.00

0.0

2.2

—

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

↥

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