Risteys · E4_LIPIDSTORNAS

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 — E75.5, E75.6, E75.6+F02.89, E75.6+G73.6, E75.6+H36.8 Hospital discharge: ICD-9 — 3301 Cause of death: ICD-10 — E75.5, E75.6, E75.6+F02.89, E75.6+G73.6, E75.6+H36.8 Cause of death: ICD-9 — 3301 2 out of 7 registries used, show all original rules.	40
4. Check minimum number of events None	40
5. Include endpoints None	40
6. Filter based on genotype QC (FinnGen only)	40

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	476	264	212
Only index persons	263	151	112
Unadjusted period prevalence (%)
Whole population	0.01	0.01	0.01
Only index persons	0.01	0.01	0.00
Median age at first event (years)
Whole population	-	42.43	35.93
Only index persons	51.98	51.69	52.38

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	40	21	19
Unadjusted period prevalence (%)	0.01	0.01	0.01
Median age at first event (years)	61.38	58.44	64.64

-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

unit

cases

controls

-log₁₀(p)

N cases

N controls

(42870588) Differential panel, method unspecified - Blood

106

3.75

4.06

4.8

5.5

—

(3023368) Bacteria identified in Blood by Culture

2.73

2.22

3.5

5.2

—

(3007930) Methemoglobin/Hemoglobin.total in Blood

5.53

2.13

4.2

4.3

0.9

1.2

—

(3023081) Carboxyhemoglobin/Hemoglobin.total in Blood

5.53

2.13

4.2

4.3

1.5

2.0

—

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

5.53

2.13

1.0

2.2

—

(3021447) Carbon dioxide [Partial pressure] in Venous blood

3.73

1.82

13.0

2.1

kpa

6.3

5.6

—

(3012544) pH of Venous blood

3.73

1.82

13.0

2.1

—

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

2.41

1.70

1.6

1.8

pmol/l

390.3

464.8

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

3.41

1.48

1.8

1.2

—

(3024354) Oxygen [Partial pressure] in Venous blood

3.41

1.48

6.0

2.1

kpa

4.9

4.4

—

(3012516) Albumin [Mass/volume] in Urine

2.11

1.37

4.0

2.9

mg/l

26.4

695.4

—

(3009542) Hematocrit [Volume Fraction] of Blood

269

2.29

1.30

22.8

13.3

39.6

39.3

0.04

180

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

2.85

1.25

1.2

—

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

2.53

1.23

1.2

1.5

—

(3002179) Metamyelocytes/100 leukocytes in Blood

2.57

1.12

1.4

4.3

—

0.4

—

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

129

1.90

1.12

3.6

3.7

ng/l

30.7

61.7

—

(3016251) Hemoglobin.gastrointestinal [Presence] in Stool

2.45

1.06

2.6

2.5

—

(3020682) Albumin/Creatinine [Ratio] in Urine

106

1.85

0.99

4.7

3.5

mg/mmol

4.7

5.7

—

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

143

1.80

0.97

3.0

4.5

—

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

2.17

0.91

2.3

1.7

—

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

163

0.55

0.84

3.5

2.6

—

(40761535) Cells panel - Urine sediment

0.00

0.81

0.0

3.2

—

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

0.49

0.79

1.0

1.3

—

(3021589) Normoblasts [#/volume] in Blood

133

1.64

0.73

9.3

12.2

e9/l

0.0

0.50

112

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

1.76

0.71

2.3

1.8

—

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

1.89

0.68

2.8

1.8

—

(1761868) Lipid panel - Serum or Plasma

1.64

0.66

4.9

2.9

—

(3037467) Urinalysis macro (dipstick) panel - Urine

215

1.60

0.64

9.7

4.0

—

(3044640) Blood type and Crossmatch panel - Blood

1.63

0.63

1.4

2.3

—

(21494755) Public health laboratory ask at order entry panel

0.00

0.62

0.0

1.5

—

(3008230) Borrelia burgdorferi IgM Ab [Units/volume] in Serum

0.00

0.61

0.0

2.3

—

(3013512) EKG study

103

1.55

0.55

6.6

3.6

—

(3041096) Erythrocytes [Presence] in Urine by Automated

1.57

0.55

5.0

3.3

—

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

114

1.51

0.51

3.3

2.7

—

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

1.70

0.45

1.4

—

(40768804) Tissue Pathology biopsy report

122

0.66

0.44

2.1

—

(3026008) Bacteria identified in Urine by Culture

1.46

0.42

6.5

2.5

—

(3013707) Erythrocyte sedimentation rate by Westergren method

237

1.43

0.40

9.1

3.7

mm/h

13.7

13.3

0.04

217

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

121

1.38

0.35

2.3

1.8

pmol/l

88.5

104.1

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.34

0.29

5.3

5.0

—

(40761511) CBC panel - Blood by Automated count

318

1.46

0.27

23.9

13.1

—

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

0.00

0.21

0.0

2.0

—

(3024403) Complement+Immunoglobulin [Units/volume] in Red Blood Cells

0.00

0.21

0.0

1.6

—

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

0.00

0.21

0.0

1.2

—

(4034850)

0.00

0.21

0.0

7.8

—

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

0.00

0.21

0.0

1.9

—

(42529201) Cancer Ag 19-9 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.21

0.0

8.9

—

158.1

—

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

0.00

0.21

0.0

1.2

—

(3040151) Glucose [Moles/volume] in Capillary blood

0.00

0.21

0.0

3.2

—

6.3

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

(3042936) Bacteria identified in Isolate by Culture

1.26

0.21

2.2

1.6

—

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

0.00

0.21

0.0

1.4

—

(3020891) Body temperature

0.00

0.21

0.0

1.8

—

(3016888) Borrelia burgdorferi IgG Ab [Units/volume] in Serum

0.00

0.21

0.0

1.3

—

(3003338) MCHC [Mass/volume]

260

1.26

0.19

21.5

17.0

g/l

331.9

0.00

260

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

293

0.85

0.10

17.3

14.0

ml/min/173m2

74.6

77.0

0.19

235

(3018418) pH of Serum or Plasma

1.18

0.09

6.9

3.4

—

7.4

—

(3007461) Platelets [#/volume] in Blood

343

0.94

0.09

29.9

20.7

e9/l

244.3

244.8

0.02

335

(3010813) Leukocytes [#/volume] in Blood

343

0.94

0.09

29.9

20.8

e9/l

7.2

6.4

1.45

334

(3026361) Erythrocytes [#/volume] in Blood

343

0.94

0.09

29.8

20.7

e12/l

4.7

4.5

1.23

333

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

1.11

0.09

1.4

2.0

—

(3031040) Bacteria [#/volume] in Urine by Automated count

209

1.12

0.06

9.4

4.2

—

11072.2

—

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

134

0.96

0.00

5.8

4.0

—

(3044889) 12 lead EKG panel

236

1.04

0.00

3.8

4.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.6

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(21494434) Karyotype in Bone marrow

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.2

—

1.4

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.4

—

304.0

—

(3006257) Acetylcholine receptor Ab [Moles/volume] in Serum

0.00

0.0

1.4

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(40768797) Stomach Pathology biopsy report

1.02

0.00

1.0

1.2

—

(3046524) Influenza virus A Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.0

—

(4146454)

0.00

0.0

1.4

—

(42529200) Cancer Ag 15-3 [Units/volume] in Serum or Plasma by Immunoassay

0.00

0.0

1.6

—

104.3

—

(42870365) C reactive protein [Mass/volume] in Blood by High sensitivity method

0.00

0.0

1.2

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

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

0.00

0.0

1.8

—

(40768806) Pleura Pathology biopsy report

0.00

0.0

2.4

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.6

—

10.0

—

(3043362) Influenza virus B Ag [Presence] in Nasopharynx by Immunoassay

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

(3016879) Cocaine [Presence] in Urine

0.00

0.0

1.0

—

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

304

1.09

0.00

5.2

4.9

mmol/l

6.0

0.11

271

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

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3043405) Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method

0.00

0.0

1.3

—

(36304419) Bacteria [Presence] in Urine

0.98

0.00

4.3

2.4

—

(3013290) Carbon dioxide [Partial pressure] in Blood

0.00

0.0

1.7

—

4.6

—

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

0.89

0.00

1.8

1.5

mmol/l

1.8

1.2

—

(3010421) pH of Blood

0.00

0.0

1.7

—

7.4

—

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

0.00

0.0

1.7

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

3.0

—

(3012441) Differential panel - Pleural fluid

0.00

0.0

2.0

—

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

0.00

0.0

1.2

—

35.2

—

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

0.00

0.0

1.0

—

(3014702) Chromogranin A [Moles/volume] in Serum or Plasma

0.00

0.0

3.7

—

2.9

—

(3023939) Sjogrens syndrome-A extractable nuclear Ab [Units/volume] in Serum

0.00

0.0

1.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.8

—

1.3

—

(1616796) Gas panel - Central venous blood

0.00

0.0

3.4

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

0.0

1.3

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

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

332

1.16

0.00

24.5

16.7

umol/l

86.8

77.3

0.29

332

(3027315) Oxygen [Partial pressure] in Blood

0.00

0.0

1.7

—

9.2

—

(42868544) Hantavirus puumala IgM Ab [Presence] in Serum or Plasma by Immunofluorescence

0.00

0.0

1.0

—

Mortality – FinRegistry

↥

Association

Association between endpoint E4_LIPIDSTORNAS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have E4_LIPIDSTORNAS.

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_LIPIDSTORNAS – Lipid storage disorder, other/unspecified

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_LIPIDSTORNAS
CONTROL_EXCLUDE	E4_METABOLIA
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	E75[5-6]
HD_ICD_9	3301
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	E75[5-6]
COD_ICD_9	3301
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

Lipid storage disorder, other/unspecified

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