Risteys · D3_METHAEMOGLOBINAEMIA

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 — D74 Hospital discharge: ICD-9 — 2897 Hospital discharge: ICD-8 — 2899[0-1] Cause of death: ICD-10 — D74 Cause of death: ICD-9 — 2897 Cause of death: ICD-8 — 2899[0-1] 2 out of 7 registries used, show all original rules.	21
4. Check minimum number of events None	21
5. Include endpoints None	21
6. Filter based on genotype QC (FinnGen only)	21

Summary Statistics

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-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	197	104	91
Only index persons	156	85	71
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	50.48	45.57	56.13
Only index persons	47.06	45.19	49.30

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	21	12	9
Unadjusted period prevalence (%)	0.00	0.00	0.00
Median age at first event (years)	45.89	32.72	63.45

-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

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

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

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

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

No data available

LabWAS

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(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

unit

cases

controls

-log₁₀(p)

N cases

N controls

(42870588) Differential panel, method unspecified - Blood

3.75

2.14

6.0

4.3

—

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

3.84

1.92

2.4

2.0

—

(3000494) Fungus identified in Specimen by Culture

4.23

1.90

1.5

—

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

2.97

1.71

16.8

7.2

mmol/l

1.2

—

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

2.98

1.60

3.2

2.7

ng/l

372.9

1127.8

—

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

3.52

1.45

2.8

2.0

—

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

3.31

1.37

2.8

1.9

—

(3022145) Colonoscopy Study observation

3.12

1.29

2.0

1.4

—

(3003338) MCHC [Mass/volume]

160

0.42

1.17

29.5

18.0

g/l

332.3

333.0

0.07

160

(3007853) Bacteria identified in Skin by Aerobe culture

2.80

1.16

1.4

1.9

—

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

0.00

1.05

0.0

2.2

—

(3013512) EKG study

2.38

1.03

3.0

3.5

—

(3023368) Bacteria identified in Blood by Culture

2.31

1.01

6.9

4.6

—

(3015736) pH of Urine

2.25

0.92

3.6

4.0

—

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

2.41

0.81

1.6

1.2

—

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

0.00

0.63

0.0

1.6

—

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

1.88

0.57

2.7

2.8

umol/l

381.4

9588.5

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.73

0.55

5.4

5.7

—

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

1.65

0.51

3.1

—

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

1.73

0.46

1.2

1.4

—

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

1.73

0.46

1.2

1.3

—

1.2

—

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

0.00

0.43

0.0

1.7

—

(3050129) First trimester maternal screen panel - Serum or Plasma

0.00

0.42

0.0

1.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.60

0.37

3.6

—

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

1.47

0.33

4.4

4.1

—

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

112

1.42

0.30

13.3

4.1

mmol/l

7.2

6.7

0.24

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

1.51

0.29

4.4

4.1

—

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

1.41

0.25

2.0

1.9

nmol/l

23.0

25.8

—

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

1.37

0.25

2.2

1.9

—

(40758558) Short blood count panel - Blood

1.33

0.24

2.6

9.1

—

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

0.00

0.22

0.0

1.5

—

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

0.00

0.22

0.0

1.0

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.22

0.0

5.6

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.6

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.22

0.0

1.7

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.22

0.0

1.6

—

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

0.00

0.22

0.0

1.8

—

(36660697) Celiac disease serology panel - Serum

0.00

0.22

0.0

1.3

—

(1761868) Lipid panel - Serum or Plasma

1.34

0.21

3.3

2.5

—

(3044640) Blood type and Crossmatch panel - Blood

1.34

0.21

2.1

1.9

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.5

—

(3020321) Streptococcus agalactiae [Presence] in Vaginal fluid by Organism specific culture

0.00

0.21

0.0

1.5

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.21

0.0

1.4

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

164

0.90

0.10

8.1

5.4

mmol/mol

42.0

39.2

0.50

156

(36304419) Bacteria [Presence] in Urine

1.11

0.10

2.4

3.0

—

(40768804) Tissue Pathology biopsy report

0.80

0.10

3.0

1.7

—

(3026008) Bacteria identified in Urine by Culture

1.14

0.09

3.6

3.3

—

(3044889) 12 lead EKG panel

112

1.17

0.09

4.0

3.3

—

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

113

0.94

0.00

3.4

3.7

—

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

0.00

0.0

1.2

—

(1002224) Polysomnography panel

0.00

0.0

1.0

—

(36033641) SARS-CoV-2 (COVID-19) Ag [Presence] in Upper respiratory specimen by Rapid immunoassay

0.00

0.0

1.6

—

(3047826) Mullerian inhibiting substance [Mass/volume] in Serum or Plasma

0.00

0.0

1.0

—

8.3

—

(3036489) Thrombin time

0.00

0.0

1.2

—

19.4

—

(3014765) Yersinia sp identified in Stool by Organism specific culture

0.00

0.0

1.0

—

(3050380) Cytology report of Cervical or vaginal smear or scraping Cyto stain

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3006418) Campylobacter sp identified in Tissue by Organism specific culture

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3007778) Kappa light chains/Lambda light chains [Mass Ratio] in Serum

0.00

0.0

1.4

—

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

0.00

0.0

2.2

—

(3029379) Protein.monoclonal band 4 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.5

—

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

0.90

0.00

1.6

1.7

—

(1761482) Bacteria [#/volume] in Urine by Culture

0.00

0.0

8.7

—

(1002102) Choriogonadotropin.intact+Beta subunit [Mass/volume] in Serum or Plasma

0.00

0.0

1.5

—

(3001019) Free T4 and TSH panel - Serum or Plasma

0.00

0.0

3.7

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.1

—

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

0.00

0.0

2.0

—

(3009542) Hematocrit [Volume Fraction] of Blood

162

0.95

0.00

24.2

15.1

39.7

40.4

—

112

(3002582) Erythrocytes [#/volume] in Urine

0.95

0.00

3.2

3.0

e6/l

9.6

1161.6

—

(3000492) Spirometry study

0.00

0.0

1.3

—

(3037467) Urinalysis macro (dipstick) panel - Urine

116

1.08

0.00

9.0

4.3

—

(21492888) Glucose tolerance 2 hours gestational panel - Serum or Plasma

0.00

0.0

1.1

—

(3018405) Lactate [Moles/volume] in Arterial blood

0.00

0.0

3.1

—

2.6

—

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

1.05

0.00

3.0

2.9

e6/l

1.3

0.6

—

(3004716) Salmonella sp identified in Stool by Organism specific culture

0.00

0.0

1.1

—

(3046870) Tissue transglutaminase IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

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

1.03

0.00

1.4

1.8

—

Mortality – FinRegistry

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Association

Association between endpoint D3_METHAEMOGLOBINAEMIA and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have D3_METHAEMOGLOBINAEMIA.

N-year risk	Females	Males
1	No data	No data
5	No data	No data
10	No data	No data
15	No data	No data
20	No data	No data

Relationships between endpoints

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Index endpoint: D3_METHAEMOGLOBINAEMIA – Methaemoglobinaemia

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

Extremity

rg [CI]

Extremity

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	D3_METHAEMOGLOBINAEMIA
CONTROL_EXCLUDE	D3_BLOODOTHER
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	D74
HD_ICD_9	2897
HD_ICD_8	2899[0-1]
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	D74
COD_ICD_9	2897
COD_ICD_8	2899[0-1]
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

Methaemoglobinaemia

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)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints