Colour vision deficiencies

H7_COULOURVISDEF

No definition available.

Endpoint definition

↥

Endpoint definition steps	FinnGen
Phenotype data	520210
1. Apply sex-specific rule None	520210
2. Check conditions None	520210
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — 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.	170
4. Check minimum number of events None	170
5. Include endpoints None	170
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	43	127
Unadjusted period prevalence (%)	0.05	0.01	0.06
Median age at first event (years)	22.39	39.45	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 (R11)

↥

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

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

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

Matched cohort

Matched cases
148: Matched controls
1480

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

H53.5

ICD-10 Finland

Colour vision deficiencies

13779.1

184.5

137

XCW99

NOMESCO Finland

Other investigative procedure of eye

6.8

12.6

H53.1

ICD-10 Finland

Subjective visual disturbances

33.1

11.9

37730

ICD-8 Finland

Other diseases of retina and optic nerve, Achromatopsia

+∞

11.6

H35.5

ICD-10 Finland

Hereditary retinal dystrophy

+∞

10.5

XCK00

NOMESCO Finland

Perimetry

9.9

8.8

H54.2

ICD-10 Finland

Moderate visual impairment, binocular

+∞

6.3

-48

ICPC

Clarification/discussion RFE/demand

8.3

6.3

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3013707) Erythrocyte sedimentation rate by Westergren method

109

842

1.82

3.41

5.1

3.7

8.3

9.5

mm/h

0.59

790

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

3.19

3.33

2.1

2.0

—

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

3.12

3.21

2.4

—

(3019225) pH of Specimen

2.39

2.82

2.3

5.4

—

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

8.54

2.76

1.0

—

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

6.17

2.72

1.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

755

1.66

2.68

5.0

3.5

—

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

4.82

2.62

1.0

2.1

—

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

4.82

2.62

1.0

2.1

—

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

4.82

2.62

1.0

2.1

—

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

5.61

2.56

1.0

—

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

2.28

2.56

1.2

1.4

—

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

4.51

2.50

1.0

2.0

—

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

4.51

2.50

1.0

2.0

—

(42870588) Differential panel, method unspecified - Blood

395

1.67

2.42

7.5

6.3

—

(3022096) Basophils/100 leukocytes in Blood

558

1.62

2.40

6.7

7.1

0.8

0.7

2.15

530

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

6.40

2.39

1.0

—

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

158

1.92

2.35

2.0

1.8

—

(3044290) Cell count panel - Cerebral spinal fluid

4.01

2.27

1.0

1.4

—

(3012516) Albumin [Mass/volume] in Urine

250

1.73

2.19

3.3

3366.1

117.9

mg/l

0.77

177

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

616

1.56

2.16

3.4

5.3

7.0

6.6

mmol/l

0.49

569

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

5.11

2.08

1.0

1.1

184.8

240.5

mg/l

—

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

213

1.75

2.06

2.1

3.5

567.8

1197.6

ng/l

1.85

176

(3018010) Neutrophils/100 leukocytes in Blood

602

1.55

2.06

6.8

6.5

55.2

56.9

0.61

574

(3026008) Bacteria identified in Urine by Culture

230

1.72

2.04

3.2

2.8

—

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

175

1.79

1.99

1.4

1.8

414.1

483.6

pmol/l

1.06

149

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

711

1.53

1.99

9.2

9.7

4.0

4.1

e9/l

0.23

624

(3006504) Eosinophils/100 leukocytes in Blood

580

1.52

1.93

7.0

6.8

3.2

2.8

0.65

546

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

3.27

1.90

1.0

1.2

3.5

3.6

mmol/l

—

(3006315) Basophils [#/volume] in Blood

613

1.50

1.84

6.7

6.8

0.0

e9/l

1.25

539

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

2.66

1.83

1.0

1.7

—

(3002030) Lymphocytes/100 leukocytes in Blood

614

1.50

1.82

6.9

6.6

29.9

28.7

0.51

581

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

3.13

1.82

1.1

1.3

383.3

487.1

mg/l

—

(3019069) Monocytes/100 leukocytes in Blood

587

1.50

1.80

7.2

7.1

9.0

8.5

0.38

557

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

3.00

1.74

1.0

1.7

—

(3019198) Lymphocytes [#/volume] in Blood

639

1.48

1.71

6.5

6.8

1.9

e9/l

0.11

576

(3001604) Monocytes [#/volume] in Blood

611

1.48

1.70

6.5

6.7

0.6

e9/l

0.37

534

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

178

1.69

1.62

1.2

36.0

33.8

iu/ml

—

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

104

886

1.45

1.53

7.3

7.0

79.3

75.5

u/l

0.35

832

(3013512) EKG study

257

1.56

1.51

4.0

3.6

—

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

2.51

1.50

1.0

1.7

—

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

2.30

1.49

1.8

1.5

—

0.5

—

(3013115) Eosinophils [#/volume] in Blood

633

1.43

1.48

7.2

7.3

0.2

e9/l

0.79

565

(3020682) Albumin/Creatinine [Ratio] in Urine

267

1.55

1.48

4.3

3.9

6.2

17.3

mg/mmol

1.19

183

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

3.19

1.45

1.0

2.0

—

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

169

1.64

1.39

1.3

1.2

27.0

6.0

u/ml

—

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

2.67

1.38

1.0

1.1

—

(3009508) Creatinine [Moles/volume] in Urine

351

1.47

1.37

3.7

2.8

9.2

9.4

mmol/l

0.13

302

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

479

1.43

1.37

4.8

8.1

1.2

mmol/l

1.03

410

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

2.55

1.31

1.0

1.1

—

(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

2.15

1.30

1.9

1.6

—

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

141

1293

1.53

1.27

13.2

11.3

24.5

23.9

mg/l

0.06

110

942

(3004588) Protein electrophoresis panel - Serum or Plasma

2.11

1.24

1.3

2.6

—

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

225

1.52

1.24

1.3

1.8

0.8

1.0

mg/l

0.27

170

(40768443) Skin Pathology biopsy report

2.10

1.17

1.0

1.3

—

(40768804) Tissue Pathology biopsy report

389

1.40

1.16

1.6

1.9

—

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

371

1.41

1.16

1.8

106.8

97.0

pmol/l

0.57

199

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

2.00

1.10

1.1

1.2

—

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

2.17

1.07

1.4

2.0

—

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

130

1189

1.40

1.04

3.5

3.1

1.4

1.3

mmol/l

0.38

125

1113

(3021589) Normoblasts [#/volume] in Blood

553

0.72

1.04

10.1

8.7

0.0

e9/l

0.50

443

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

1.77

1.02

1.7

1.5

1.4

1.0

g/l

1.04

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

253

1.43

1.01

1.9

3.0

349.6

2176.1

umol/l

0.50

226

(3052851) Hemolysis interference index of Serum or Plasma

2.21

0.98

1.6

3.3

—

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

1.83

0.96

1.5

3.0

69.9

66.1

g/l

1.18

(3045414) Leukocytes [Presence] in Urine

1.93

0.95

1.0

1.6

—

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

120

1091

1.34

0.95

5.1

3.8

1.7

1.9

mu/l

1.08

114

1013

(3027944) Amphetamines [Presence] in Urine

181

0.58

0.94

1.8

1.7

—

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

1.95

0.90

1.3

1.5

—

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

324

1.35

0.86

1.3

1.2

0.6

0.9

u/ml

—

(3000492) Spirometry study

147

1.49

0.85

1.5

1.3

—

(3007853) Bacteria identified in Skin by Aerobe culture

122

1.53

0.84

4.7

1.7

—

(3032080) INR in Blood by Coagulation assay

381

1.32

0.84

7.0

6.3

1.4

1.2

inr

0.60

126

(3018095) Leukocytes [#/volume] in Urine

374

1.32

0.80

3.2

3.3

9.7

45.5

e6/l

2.02

266

(1616796) Gas panel - Central venous blood

0.00

0.80

0.0

2.7

—

(3023368) Bacteria identified in Blood by Culture

256

1.36

0.78

2.7

4.2

—

(3042194) Human metapneumovirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.78

0.0

1.8

—

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

134

0.58

0.77

2.3

2.1

—

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

881

1.27

0.77

4.2

3.2

14.8

pmol/l

0.08

794

(3022313) Gas panel - Capillary blood

1.74

0.77

3.1

4.6

—

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

1.88

0.74

1.1

1.5

—

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

360

1.30

0.73

3.6

3.2

15.1

26.8

ng/l

2.38

213

(3013139) Helicobacter pylori Ag [Presence] in Stool

1.61

0.72

1.0

1.2

—

(3000330) Specific gravity of Urine by Test strip

1.74

0.71

6.9

4.1

—

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

1.60

0.70

2.5

1.8

3.2

7.1

ug/l

1.60

(3016502) Oxygen saturation in Arterial blood

0.52

0.69

7.8

15.4

96.0

95.5

—

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

1.75

0.64

2.6

2.1

—

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

285

1.29

0.61

2.0

2.7

0.2

0.3

e6/l

0.46

221

(4198724)

0.00

0.61

0.0

1.8

—

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

161

0.66

0.60

2.2

—

(3039000) Anion gap in Blood

0.00

0.59

0.0

27.7

—

11.9

—

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

0.00

0.59

0.0

1.0

—

(3018572) Chloride [Moles/volume] in Blood

0.00

0.59

0.0

27.7

—

103.6

—

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

552

1.22

0.59

3.4

3.1

0.0

estimate

—

102

(40765161) Human bocavirus DNA [Presence] in Specimen by NAA with probe detection

0.00

0.58

0.0

1.7

—

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

120

1124

1.23

0.56

4.1

3.4

5.8

mmol/l

0.18

110

1035

(3042936) Bacteria identified in Isolate by Culture

152

1.36

0.55

1.8

2.2

—

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

546

1.21

0.55

5.1

4.3

0.0

estimate

—

110

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

460

1.22

0.54

3.2

4.1

—

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

235

1.28

0.52

3.1

2.3

—

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

539

1.21

0.52

3.3

3.0

0.0

estimate

—

105

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

101

1.42

0.51

1.8

1.5

—

(36660697) Celiac disease serology panel - Serum

106

0.65

0.50

1.3

1.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

137

1307

1.25

0.50

10.8

11.4

41.7

42.1

0.23

104

1077

(3002582) Erythrocytes [#/volume] in Urine

321

1.24

0.49

2.6

2.8

83.4

42.1

e6/l

0.23

256

(3044640) Blood type and Crossmatch panel - Blood

321

1.24

0.49

2.3

—

(1761868) Lipid panel - Serum or Plasma

474

0.82

0.47

2.8

2.1

—

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

0.58

0.47

7.8

14.1

113.2

127.9

g/l

—

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

0.58

0.47

1.0

—

(3009343) pH of Capillary blood

1.48

0.45

2.9

4.2

—

7.4

—

(4010399)

1.46

0.42

1.1

1.3

—

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

365

1.20

0.42

2.4

2.8

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

1.53

0.41

2.6

2.0

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.37

0.41

1.0

1.1

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.41

0.0

1.0

—

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

0.00

0.41

0.0

1.3

—

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

0.00

0.41

0.0

1.8

—

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

0.00

0.41

0.0

2.4

—

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

0.00

0.41

0.0

1.6

—

(4094501)

0.00

0.41

0.0

1.2

—

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

131

1253

1.20

0.41

4.0

3.6

2.8

mmol/l

0.17

124

1171

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

0.00

0.41

0.0

1.9

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.41

0.0

2.1

—

469.2

—

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

0.00

0.40

0.0

1.8

—

(3002482) Mycoplasma pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.39

0.0

1.8

—

(40761535) Cells panel - Urine sediment

0.64

0.36

2.8

3.1

—

(3007566) Smooth muscle Ab [Titer] in Serum

1.38

0.35

1.3

1.4

—

50.0

—

(3003284) Neutrophil cytoplasmic Ab.perinuclear [Titer] in Serum by Immunofluorescence

1.38

0.35

2.2

1.6

—

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

315

1.18

0.34

2.2

2.4

—

(3000991) Gas panel - Venous blood

0.65

0.33

6.2

10.3

—

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

1.32

0.33

1.7

1.6

—

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

156

1.25

0.32

2.1

2.8

1.9

2.4

e6/l

—

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

0.71

0.32

1.4

2.0

—

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

166

1.23

0.31

2.0

2.6

1.3

1.1

e6/l

—

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

168

1.22

0.28

1.2

1.5

—

(36304419) Bacteria [Presence] in Urine

282

1.17

0.28

2.0

2.7

—

(3028300) Cannabinoids [Presence] in Urine

182

0.81

0.28

4.1

1.6

—

(3022621) pH of Urine by Test strip

1.26

0.28

3.0

2.0

—

(3027008) Opiates [Presence] in Urine

181

0.81

0.27

4.0

1.7

—

(3000764) Benzodiazepines [Presence] in Urine

179

0.82

0.24

4.0

1.7

—

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

363

1.13

0.24

1.7

—

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

106

1.25

0.24

1.8

1.5

—

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

106

1.25

0.24

6.4

6.3

—

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

1.20

0.21

1.4

1.7

—

(3042596) Human coronavirus RNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.4

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.6

—

4.3

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

0.00

0.21

0.0

1.2

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.21

0.0

1.3

—

32.8

—

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

0.00

0.21

0.0

1.1

—

11.5

—

(3011648) Oxygen content in Venous blood

0.00

0.21

0.0

3.9

—

12.2

—

(3036071) Salmonella sp Ab [Titer] 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

1.5

—

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

0.00

0.21

0.0

1.3

—

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

281

0.87

0.21

3.4

3.2

0.0

estimate

—

104

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

2.2

—

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

0.00

0.21

0.0

2.2

—

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

0.00

0.21

0.0

1.0

—

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

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

2.2

—

(3031478) Chlamydophila pneumoniae DNA [Presence] in Specimen by NAA with probe detection

0.00

0.21

0.0

1.8

—

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

0.00

0.21

0.0

1.4

—

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

155

1.18

0.21

1.9

1.7

1125.6

1152.7

nmol/l

0.03

122

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

251

1.14

0.20

5.9

3.5

22.4

22.7

0.02

103

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

251

1.14

0.20

1.3

1.5

—

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

0.00

0.20

0.0

1.4

—

(40758558) Short blood count panel - Blood

300

0.88

0.20

10.0

7.1

—

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

1.25

0.19

1.1

1.6

—

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

142

0.83

0.18

1.4

1.5

—

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

205

1.14

0.18

2.9

3.2

603.0

370.5

ng/l

0.15

139

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

1.17

0.18

2.4

2.1

113.1

132.6

ng/l

—

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

341

1.11

0.17

1.2

1.4

—

(3000494) Fungus identified in Specimen by Culture

129

1.18

0.17

1.5

—

(4035726)

1.17

0.16

1.3

1.5

—

(3025941) Bacteria identified in Stool by Culture

1.10

0.15

1.3

1.2

—

(3048689) Calprotectin [Mass/mass] in Stool

208

1.12

0.15

2.8

2.9

174.5

188.5

ug/g

0.04

168

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

0.77

0.15

1.0

1.9

—

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

427

0.92

0.14

3.8

3.1

—

(3022145) Colonoscopy Study observation

122

1.16

0.14

1.3

1.5

—

(40761511) CBC panel - Blood by Automated count

136

1384

0.91

0.14

11.5

9.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

326

1.09

0.14

3.6

2.8

—

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

121

1185

1.07

0.12

10.1

10.0

95.2

95.0

ml/min/173m2

0.02

933

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

137

0.87

0.12

4.6

1.8

—

(3016879) Cocaine [Presence] in Urine

168

0.88

0.12

3.9

1.7

—

(21494755) Public health laboratory ask at order entry panel

229

0.91

0.11

1.2

1.3

—

(3002256) Pathology report gross observation

115

0.86

0.11

1.1

1.2

—

(40768797) Stomach Pathology biopsy report

125

0.87

0.10

1.2

—

(3011288) Drugs identified in Urine by Screen method

114

0.87

0.10

8.2

2.3

—

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

292

1.08

0.09

1.2

1.3

2.6

2.3

g/l

0.96

189

(3019832) Treponema pallidum Ab [Presence] in Serum

216

0.92

0.09

1.6

1.9

—

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

115

1170

0.95

0.09

3.7

3.4

—

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

297

0.93

0.08

1.8

1.6

—

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

255

0.93

0.07

1.8

1.6

—

(3008898) HLA-B27 [Presence]

1.06

0.07

1.0

1.1

—

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

224

0.93

0.07

2.8

3.0

—

(3012544) pH of Venous blood

111

0.89

0.06

3.4

4.5

—

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

347

1.05

0.05

2.4

2.5

—

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

120

0.91

0.05

5.6

7.0

105.0

104.0

mmol/l

0.54

115

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

101

1.10

0.04

1.1

1.3

—

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

102

1.08

0.03

1.4

1.3

—

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

439

0.97

0.02

4.3

5.3

37.8

37.2

g/l

0.27

416

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

412

1.03

0.02

2.0

2.1

—

(3044889) 12 lead EKG panel

742

1.02

0.01

3.5

2.9

—

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

183

1.04

0.01

2.7

2.5

0.9

0.7

ug/l

0.84

106

(40760892) CBC W Ordered Manual Differential panel - Blood

294

1.02

0.00

2.1

4.9

—

(3027945) Reticulocytes/100 erythrocytes in Blood

101

0.99

0.00

2.1

3.7

1.7

1.8

—

(3018418) pH of Serum or Plasma

284

0.98

0.00

3.0

3.7

7.4

—

(21494890) Protein electrophoresis panel - 24 hour Urine

0.00

0.0

6.3

—

(21494814) CD8 cells/100 lymphocytes in Specimen

0.00

0.0

2.2

—

(40768446) Kidney Pathology biopsy report

0.00

0.0

1.7

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

0.0

34.2

—

157.5

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

1.02

0.00

6.0

3.6

52.4

54.2

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

6.0

—

193.8

—

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

0.00

0.0

1.8

—

(3004451) EKG impression Narrative

0.00

0.0

1.3

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.5

—

(3017704) Immunofixation for Urine

0.00

0.0

1.0

—

(4133840)

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3045788) Cell count panel - Pleural fluid

0.00

0.0

1.2

—

(3006576) Bicarbonate [Moles/volume] in Blood

0.00

0.0

6.6

—

24.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.4

—

(3012441) Differential panel - Pleural fluid

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

7.6

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.1

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

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

0.00

0.0

1.4

—

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

0.00

0.0

2.4

—

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

0.00

0.0

1.5

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

2.2

—

(3016038) Potassium [Moles/volume] in Urine

0.00

0.0

1.6

—

43.7

—

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

0.00

0.0

2.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

8.0

—

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

0.00

0.0

2.4

—

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

0.94

0.00

7.1

2.1

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.4

—

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

0.00

0.0

1.3

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

2.0

—

8.6

—

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

0.00

0.0

1.7

—

1.5

—

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

0.00

0.0

2.4

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

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

0.00

0.0

2.4

—

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

0.00

0.0

2.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

134.9

—

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

0.00

0.0

2.4

—

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

0.00

0.0

1.4

—

1140.3

—

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

0.89

0.00

1.4

2.9

0.2

g/l

—

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

0.00

0.0

1.6

—

(3006270) Folate [Moles/volume] in Blood

0.00

0.0

1.3

—

428.5

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

3.9

—

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

0.97

0.00

6.0

5.5

24.8

24.6

mmol/l

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.7

—

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

0.00

0.0

3.4

—

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

0.00

0.0

4.4

—

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

0.00

0.0

1.4

—

91.8

—

(40761536) Microorganisms panel - Urine sediment

0.97

0.00

4.9

3.2

—

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

0.00

0.0

1.0

—

(3032868) Hemoglobin electrophoresis panel in Blood

0.00

0.0

1.8

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

9.3

—

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

0.00

0.0

2.0

—

23.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

2.1

—

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

0.00

0.0

1.1

—

223.3

—

(3035880) pH of Pleural fluid

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

0.0

1.0

—

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

0.00

0.0

1.9

—

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: 3

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints