Risteys · E4

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 — E03.5 Cause of death: ICD-10 — E03.5 2 out of 7 registries used, show all original rules.	22
4. Check minimum number of events None	22
5. Include endpoints None	22
6. Filter based on genotype QC (FinnGen only)	22

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	177	127	50
Only index persons	167	120	47
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	-	60.66	61.80
Only index persons	60.31	59.61	62.10

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	22	15	7
Unadjusted period prevalence (%)	0.00	0.01	0.00
Median age at first event (years)	49.71	46.33	56.97

-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)

↥

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

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

127

+∞

4.85

10.2

2.7

16.0

14.3

pmol/l

1.69

108

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

168

+∞

2.26

11.0

3.3

2.7

1.8

mu/l

0.56

146

(3007853) Bacteria identified in Skin by Aerobe culture

4.73

2.10

2.0

1.3

—

(3042936) Bacteria identified in Isolate by Culture

4.16

2.09

3.9

1.6

—

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

3.35

2.08

3.8

4.4

—

(3041096) Erythrocytes [Presence] in Urine by Automated

3.35

1.95

3.5

2.8

—

(3020682) Albumin/Creatinine [Ratio] in Urine

3.43

1.94

4.9

3.9

9.3

4.7

mg/mmol

—

(3026910) Gamma glutamyl transferase [Enzymatic activity/volume] in Serum or Plasma

115

3.09

1.58

4.0

3.0

40.2

51.2

u/l

0.45

108

(3018677) aPTT in Platelet poor plasma by Coagulation assay

3.35

1.56

1.3

1.8

31.1

29.1

—

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

3.19

1.48

1.8

1.9

—

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

2.67

1.44

3.4

3.7

—

(42870588) Differential panel, method unspecified - Blood

2.83

1.44

4.1

4.8

—

(3001604) Monocytes [#/volume] in Blood

2.77

1.41

3.7

5.8

0.6

0.5

e9/l

0.39

(3006315) Basophils [#/volume] in Blood

2.72

1.41

3.7

5.8

0.0

e9/l

0.66

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

2.74

1.40

2.0

1.7

113.4

95.5

pmol/l

—

(3019198) Lymphocytes [#/volume] in Blood

2.66

1.40

3.7

5.8

1.7

1.8

e9/l

0.08

(3013512) EKG study

2.73

1.38

14.0

3.3

—

(3013115) Eosinophils [#/volume] in Blood

2.52

1.35

3.9

5.6

0.3

0.2

e9/l

0.82

(3023368) Bacteria identified in Blood by Culture

2.54

1.23

3.0

4.1

—

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

2.73

1.22

2.0

—

(3044640) Blood type and Crossmatch panel - Blood

2.29

1.13

3.1

1.8

—

(3022948) Iron [Moles/volume] in Serum or Plasma

2.63

1.09

2.0

1.7

9.8

21.3

umol/l

—

(3004789) Transferrin [Mass/volume] in Serum or Plasma

2.63

1.09

2.6

1.6

2.1

2.4

g/l

—

(3020564) Creatinine [Moles/volume] in Serum or Plasma

190

+∞

1.07

25.1

15.1

93.4

74.3

umol/l

0.70

190

(40761511) CBC panel - Blood by Automated count

192

+∞

1.06

27.2

11.9

—

(1761868) Lipid panel - Serum or Plasma

2.28

0.99

3.2

2.5

—

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

2.21

0.98

1.3

2.2

346.3

19099.5

umol/l

—

(3037467) Urinalysis macro (dipstick) panel - Urine

125

2.02

0.75

3.9

4.3

—

(3003338) MCHC [Mass/volume]

160

0.54

0.67

26.5

16.5

329.0

332.0

g/l

1.01

160

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

1.91

0.63

2.0

1.7

—

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

101

1.70

0.57

3.6

11.2

4.1

4.0

e9/l

0.08

(3026008) Bacteria identified in Urine by Culture

1.63

0.50

3.8

2.7

—

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

1.61

0.44

1.8

1.7

—

(3000492) Spirometry study

0.00

0.43

0.0

1.3

—

(3026361) Erythrocytes [#/volume] in Blood

204

+∞

0.43

33.4

18.9

4.3

4.5

e12/l

0.56

199

(3010813) Leukocytes [#/volume] in Blood

204

+∞

0.43

33.5

18.8

6.9

6.5

e9/l

0.45

199

(40758558) Short blood count panel - Blood

1.47

0.36

3.6

6.8

—

(3044889) 12 lead EKG panel

122

1.40

0.30

4.1

3.7

—

(3009542) Hematocrit [Volume Fraction] of Blood

173

0.73

0.23

23.6

12.1

39.8

40.0

—

126

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

0.21

0.0

1.1

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.00

0.21

0.0

1.1

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

0.00

0.21

0.0

1.5

—

83.2

—

(4035726)

0.00

0.21

0.0

1.4

—

(3008898) HLA-B27 [Presence]

0.00

0.21

0.0

1.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.21

0.11

6.2

5.5

—

(3002582) Erythrocytes [#/volume] in Urine

1.16

0.09

3.7

1.9

132.3

16.0

e6/l

—

(3015736) pH of Urine

1.13

0.09

2.0

3.6

—

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

119

1.22

0.08

2.5

3.0

—

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

0.00

0.0

1.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

1.7

—

(3018387) Mycoplasma pneumoniae IgG Ab [Units/volume] in Serum

0.00

0.0

1.1

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.4

—

(4094501)

0.00

0.0

1.0

—

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

0.96

0.00

3.7

1.9

—

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

0.00

0.0

1.0

—

(3040853) Adenovirus DNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.7

—

(40768804) Tissue Pathology biopsy report

0.96

0.00

1.5

2.0

—

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

0.00

0.0

1.4

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

2.6

—

113.1

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.4

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.6

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

3.0

—

4.7

—

(3017766) Complement C4 [Mass/volume] in Serum or Plasma

0.00

0.0

1.8

—

0.2

—

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

0.00

0.0

1.1

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.0

—

(3015916) Alpha-1-Fetoprotein [Units/volume] in Serum or Plasma

0.00

0.0

2.0

—

1.8

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.0

—

(3002434) Lupus erythematosus deoxynucleoproteins IgG Ab [Units/volume] in Serum by Immunoassay

0.00

0.0

2.8

—

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

3.0

—

10.2

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.3

—

(3028271) Lactate [Moles/volume] in Capillary blood

0.00

0.0

1.8

—

1.6

—

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

0.00

0.0

1.4

—

(3022806) Fractional oxyhemoglobin in Capillary blood

0.00

0.0

1.6

—

92.4

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.0

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.4

—

(3021901) Oxygen saturation in Capillary blood

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

70.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3003740) Influenza virus B Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3016879) Cocaine [Presence] in Urine

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.3

—

(3016543) Leukocytes [#/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

2.7

—

(3027475) Erythrocytes [#/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.2

—

776.0

—

(3024891) Influenza virus A+B Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

(3022914) Cancer Ag 19-9 [Units/volume] in Serum or Plasma

0.00

-0.00

0.0

6.6

—

777.5

—

(3012336) Haptoglobin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

4.2

—

1.4

—

(3002523) Influenza virus A Ag [Presence] in Specimen

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.3

—

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

0.00

-0.00

0.0

1.7

—

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_MYXOCO and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_MYXOCO.

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

Relationships between endpoints

↥

Index endpoint: E4_MYXOCO – Myxoedema coma

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	E4_MYXOCO
CONTROL_EXCLUDE	E4_THYROID
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E035
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	E035
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
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

Myxoedema coma

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