Other chromosome abnormalities, not elsewhere classified

Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED

No definition available.

Endpoint definition

↥

Report an error or suggest an improvement for this endpoint codes

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 — Q99 Cause of death: ICD-10 — Q99 2 out of 7 registries used, show all original rules.	151
4. Check minimum number of events None	151
5. Include endpoints None	151
6. Filter based on genotype QC (FinnGen only)	151

Control definitions (FinnGen only)

Control exclude: Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED

Extra metadata

Level in the ICD hierarchy: 3
First used in FinnGen datafreeze: DF4
Parent code in ICD-10: Q9
Name in latin: Aliae abnormitates chromosomales non alibi classificatae

NAME	Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED
CONTROL_EXCLUDE	Q17_CHROMOSOMAL_ABNORMALITI_NOT_ELSEW_CLASSIFIED
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	Q99
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q99
COD_ICD_9
COD_ICD_8
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 Other chromosome abnormalities, not elsewhere classified 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	2451	1010	1439
Only index persons	1621	699	922
Unadjusted period prevalence (%)
Whole population	0.04	0.03	0.04
Only index persons	0.03	0.03	0.04
Median age at first event (years)
Whole population	8.59	10.07	7.51
Only index persons	15.21	17.61	13.39

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	151	90	61
Unadjusted period prevalence (%)	0.03	0.03	0.03
Median age at first event (years)	20.93	30.10	7.40

-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
140: Matched controls
1400

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q99.8

ICD-10 Finland

Other specified chromosome abnormalities

+∞

124.1

100

Z31.5

ICD-10 Finland

Genetic counselling

24.5

50.8

Q99.2

ICD-10 Finland

Fragile X chromosome

+∞

29.2

F83

ICD-10 Finland

Mixed specific developmental disorders

9.9

15.1

Z01.1

ICD-10 Finland

Examination of ears and hearing

4.7

12.7

143

Q99.9

ICD-10 Finland

Chromosomal abnormality, unspecified

+∞

12.7

R62.0

ICD-10 Finland

Delayed milestone

7.2

12.1

F79.0

ICD-10 Finland

Unspecified mental retardation, with the statement of no, or minimal, impairment of behaviour

19.1

11.5

111

Kela drug reimbursment

Epilepsy and comparable convulsive disorders

7.2

10.3

R5110

NOMESCO Finland

Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it

5.6

10.0

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

5.1

8.8

F70.0

ICD-10 Finland

Mild mental retardation, With the statement of no, or minimal, impairment of behaviour

21.7

8.6

R56.8

ICD-10 Finland

Other and unspecified convulsions

5.5

8.5

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

4.8

8.3

XA800

NOMESCO Finland

Neuropsychological investigation

4.6

8.0

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

3.8

7.5

105

R1260

NOMESCO Finland

Evaluation of communicative skills

17.8

6.8

F79.1

ICD-10 Finland

Unspecified mental retardation, significant impairment of behaviour requiring attention or treatment

+∞

6.3

N03AG01

ATC

valproic acid; systemic, rectal

5.3

6.2

F80.1

ICD-10 Finland

Expressive language disorder

7.8

6.1

H01AC01

ATC

somatropin; parenteral

6.3

6.0

LabWAS

↥

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

5.86

5.90

1.1

—

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

625

2.10

4.64

14.1

13.4

1.22

1.23

mmol/l

1.07

582

(3018418) pH of Serum or Plasma

272

2.06

3.83

3.2

3.8

7.41

—

(42870588) Differential panel, method unspecified - Blood

584

1.84

3.33

7.4

10.5

—

(3000722) Carnitine free (C0) [Moles/volume] in Serum or Plasma

8.86

3.29

3.2

2.4

16.25

28.70

umol/l

—

(21494429) FMR1 gene CGG repeat analysis in Blood or Tissue by Molecular genetics method

6.61

3.22

1.0

—

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

101

2.38

3.11

2.6

1.9

13.05

18.36

iu/l

0.45

(3052851) Hemolysis interference index of Serum or Plasma

3.09

2.93

2.3

3.5

—

(3016845) Adenovirus Ag [Presence] in Specimen by Immunofluorescence

5.59

2.90

1.7

1.1

—

(43055514) Macroprolactin [Presence] in Serum or Plasma

8.56

2.77

1.4

1.0

—

(3032080) INR in Blood by Coagulation assay

284

1.84

2.75

3.3

6.4

1.04

1.15

inr

—

(3044889) 12 lead EKG panel

550

1.73

2.74

2.6

—

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

6.20

2.72

3.2

2.0

612.67

978.10

u/ml

—

(3021387) Prolactin [Units/volume] in Serum or Plasma

2.39

2.66

2.1

1.4

549.89

329.47

mu/l

0.95

(3009214) Lutropin [Units/volume] in Serum or Plasma

2.39

2.55

2.9

2.1

8.94

7.95

u/l

—

(3006315) Basophils [#/volume] in Blood

788

1.61

2.03

8.2

9.5

0.04

e9/l

0.16

646

(3001604) Monocytes [#/volume] in Blood

789

1.60

2.01

8.3

9.5

0.60

0.57

e9/l

0.28

648

(3013115) Eosinophils [#/volume] in Blood

810

1.61

2.00

8.3

10.4

0.20

0.22

e9/l

0.65

687

(3003458) Phosphate [Moles/volume] in Serum or Plasma

285

1.66

1.94

5.8

11.8

1.29

1.36

mmol/l

0.77

268

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

0.00

1.93

0.0

1.1

—

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

0.00

1.92

0.0

1.1

—

(3006504) Eosinophils/100 leukocytes in Blood

765

1.57

1.89

8.5

9.7

2.93

3.15

0.41

731

(3018010) Neutrophils/100 leukocytes in Blood

786

1.57

1.87

8.1

9.5

50.57

49.48

0.32

759

(3023368) Bacteria identified in Blood by Culture

263

1.65

1.84

3.4

4.5

—

(3018171) Choriogonadotropin [Units/volume] in Serum or Plasma

2.09

1.82

3.9

2.5

876.52

5895.24

u/l

—

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

103

871

1.58

1.82

10.6

12.7

3.52

3.68

e9/l

0.26

731

(3019060) Gas panel - Arterial blood

3.14

1.82

2.4

4.3

—

(3019069) Monocytes/100 leukocytes in Blood

771

1.54

1.78

8.7

9.9

8.21

8.15

0.05

743

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

133

1205

1.92

1.76

13.2

12.5

54.38

58.72

umol/l

1.42

133

1205

(3019198) Lymphocytes [#/volume] in Blood

813

1.55

1.75

8.4

9.5

2.41

2.47

e9/l

0.14

695

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

2.48

1.71

3.1

6.9

61.20

50.12

—

(3007853) Bacteria identified in Skin by Aerobe culture

168

1.74

1.70

1.9

—

(3000991) Gas panel - Venous blood

260

1.62

1.69

12.1

13.6

—

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

3.24

1.68

2.3

3.1

12.10

11.26

umol/l

—

(3000494) Fungus identified in Specimen by Culture

107

1.89

1.64

1.3

1.8

—

(3013721) Aspartate aminotransferase [Enzymatic activity/volume] in Serum or Plasma

368

1.54

1.63

5.1

5.3

45.02

39.26

u/l

0.13

352

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

3.08

1.60

1.7

1.4

—

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

3.41

1.53

3.6

2.5

—

(3028531) Enolase.neuron specific [Mass/volume] in Serum or Plasma

3.41

1.53

6.6

3.5

18.23

18.48

ug/l

—

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

259

0.53

1.52

2.3

—

(3023709) Somatotropin [Mass/volume] in Serum or Plasma

2.57

1.47

4.9

6.5

2.00

2.57

ug/l

—

(3051611) Lipemic interference index of Serum or Plasma

2.80

1.45

1.8

3.9

—

(3002030) Lymphocytes/100 leukocytes in Blood

801

1.46

1.43

8.6

9.6

33.78

35.75

0.87

777

(1175426) CD3 cells/100 lymphocytes in Blood

2.33

1.43

1.7

4.7

65.00

62.35

—

(40761511) CBC panel - Blood by Automated count

136

1258

1.87

1.42

13.4

10.3

—

(21493690) Lymphocyte T-cell and B-cell and Natural killer subsets panel - Blood

2.27

1.39

1.9

4.6

—

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

153

1.68

1.39

3.2

4.5

0.21

0.19

g/l

0.63

146

(3042111) Morphology [Interpretation] in Bone marrow Narrative

3.00

1.37

2.6

3.4

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

1.35

0.0

1.4

—

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

238

0.55

1.34

2.3

2.2

—

(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

2.02

1.32

1.8

1.6

—

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

111

1216

0.66

1.31

3.9

4.1

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

206

1.57

1.31

2.7

7.9

29.62

31.48

1.02

206

(3000093) Morphology [Interpretation] in Blood Narrative

2.84

1.29

1.2

—

(3002032) Base excess in Venous blood by calculation

285

1.50

1.29

4.4

10.8

0.96

1.10

mmol/l

0.14

212

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

2.46

1.25

1.0

1.1

—

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

2.04

1.25

1.6

1.4

—

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

2.04

1.25

1.6

1.4

—

(3044640) Blood type and Crossmatch panel - Blood

351

1.45

1.23

2.7

3.5

—

(21494434) Karyotype in Bone marrow

2.69

1.22

2.4

1.5

—

(3003396) Base excess in Arterial blood by calculation

1.85

1.21

24.9

20.0

0.29

0.90

mmol/l

—

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

325

1.45

1.20

13.9

16.4

24.50

24.63

mmol/l

0.11

325

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

185

1.56

1.19

1.8

3.4

12.72

14.04

umol/l

0.56

179

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

114

0.42

1.18

1.4

1.6

—

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

2.55

1.16

1.0

1.2

—

(3045781) Inhibin B [Mass/volume] in Serum or Plasma

2.55

1.16

3.6

1.8

110.60

139.15

ng/l

—

(40760892) CBC W Ordered Manual Differential panel - Blood

256

1.48

1.15

3.8

5.6

—

(3005719) IgG [Mass/volume] in Serum or Plasma

153

1.59

1.15

3.9

4.3

8.38

8.56

g/l

0.08

147

(3002582) Erythrocytes [#/volume] in Urine

425

1.38

1.06

2.8

4.6

106.61

43.24

e6/l

0.31

333

(40762366) Oxygen capacity [Volume Fraction] in Arterial blood

2.02

1.06

24.4

26.2

—

(3021589) Normoblasts [#/volume] in Blood

745

1.36

1.05

9.1

12.0

0.00

e9/l

0.66

562

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

2.31

1.04

4.6

4.1

54.40

53.82

—

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

244

1.45

1.03

3.0

4.4

2.90

1.71

e6/l

0.34

152

(40768443) Skin Pathology biopsy report

2.05

1.01

1.0

1.1

—

(3026008) Bacteria identified in Urine by Culture

282

1.41

0.98

2.0

2.5

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.81

0.96

2.9

16.9

1.22

1.45

—

(1761868) Lipid panel - Serum or Plasma

326

0.69

0.90

3.3

2.1

—

(3024139) IgG subclass 3 [Mass/volume] in Serum

2.11

0.90

1.5

1.3

0.49

0.40

g/l

—

(4062490)

2.11

0.90

1.5

1.3

—

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

137

1.53

0.90

1.9

2.0

—

(3035637) Corticotropin [Mass/volume] in Plasma

1.72

0.88

1.4

1.9

—

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

306

1.37

0.88

2.4

3.1

2.74

2.60

mg/l

0.17

272

(21494755) Public health laboratory ask at order entry panel

113

0.51

0.87

1.3

—

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

485

1.32

0.86

1.7

1.78

1.57

g/l

0.53

235

(3042936) Bacteria identified in Isolate by Culture

147

1.50

0.86

2.8

2.0

—

(3018095) Leukocytes [#/volume] in Urine

505

1.31

0.85

3.7

5.5

28.08

29.92

e6/l

0.04

346

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

139

1.51

0.84

2.1

—

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

458

1.32

0.84

3.7

4.6

—

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

174

1.45

0.83

2.4

2.1

—

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

395

1.32

0.79

3.3

4.5

0.34

0.35

e6/l

0.01

303

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

1.59

0.78

1.6

1.3

—

(40758558) Short blood count panel - Blood

481

1.30

0.78

7.3

9.8

—

(3007449) CD3+CD8+ (T8 suppressor) cells/100 cells in Blood

1.88

0.74

1.7

4.3

19.29

24.08

—

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

241

1.36

0.74

2.5

4.9

1.86

1.19

mg/l

0.41

186

(3048816) Calcium.ionized [Moles/volume] adjusted to pH 7.4 in Blood

1.65

0.74

1.7

6.0

1.24

1.23

mmol/l

—

(3000330) Specific gravity of Urine by Test strip

1.79

0.72

4.4

2.0

—

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

215

1.37

0.72

2.6

2.9

21.73

42.45

ng/l

0.42

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

1.74

0.71

1.6

1.3

—

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

1.88

0.69

1.2

1.3

—

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

245

1.33

0.67

3.8

4.1

1.22

0.52

e6/l

0.83

153

(3020891) Body temperature

1.81

0.67

5.4

6.3

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.81

0.67

1.2

3.3

—

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

1.62

0.66

1.3

—

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

500

1.26

0.66

3.8

4.7

—

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

174

1.38

0.65

3.3

4.0

321.47

695.96

ng/l

0.84

119

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

858

1.26

0.64

2.9

3.0

5.58

5.55

mmol/l

0.04

795

(3027238) Thyroperoxidase Ab [Units/volume] in Serum or Plasma

113

1.47

0.64

1.0

1.3

116.00

118.81

iu/ml

—

(3016881) Enterovirus RNA [Presence] in Specimen by NAA with probe detection

1.60

0.61

1.5

1.6

—

(3029493) Herpes virus 6 DNA [Presence] in Blood by NAA with probe detection

0.00

0.61

0.0

4.4

—

(3018738) Hemoglobin F/Hemoglobin.total in Blood

0.00

0.60

0.0

4.1

—

0.30

—

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

0.00

0.60

0.0

1.1

—

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

0.00

0.60

0.0

1.6

—

(3013327) Hepatitis A virus IgM Ab [Presence] in Serum

0.00

0.60

0.0

1.0

—

(3011951) Aspergillus fumigatus IgE Ab [Units/volume] in Serum

0.00

0.60

0.0

1.8

—

0.06

—

(3012095) Magnesium [Moles/volume] in Serum or Plasma

204

1.33

0.59

5.2

12.8

0.79

0.80

mmol/l

0.26

197

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

0.00

0.59

0.0

1.0

—

(3017732) Neutrophils [#/volume] in Blood

0.54

0.57

1.8

2.4

5.74

4.16

e9/l

—

(586526) SARS-CoV-2 (COVID-19) RNA [Presence] in Nasopharynx by NAA with probe detection

1.56

0.56

1.6

1.4

—

(3023602) Cholesterol in HDL [Moles/volume] in Serum or Plasma

864

0.82

0.55

4.1

3.4

1.39

1.46

mmol/l

1.07

816

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

0.60

0.54

1.3

1.1

—

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

559

1.22

0.53

3.3

3.5

0.00

estimate

—

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

551

1.21

0.51

4.6

5.4

0.00

estimate

—

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

870

0.83

0.51

4.1

3.5

2.79

2.76

mmol/l

0.13

822

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

484

1.22

0.50

1.5

1.7

4.83

1.93

u/ml

0.29

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

553

1.21

0.49

3.4

3.7

0.00

estimate

—

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

285

0.77

0.49

1.9

1.8

—

(3006245) CD3-CD19+ cells/100 cells in Blood

1.55

0.49

1.7

4.6

20.00

17.11

—

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

111

1.39

0.49

1.0

1.4

500.22

525.89

pmol/l

—

100

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

0.60

0.47

1.2

—

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

0.59

0.47

1.8

1.6

—

(3019902) Methicillin resistant Staphylococcus aureus [Presence] in Specimen by Organism specific culture

1.46

0.47

2.1

3.1

—

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

130

1.35

0.46

2.3

1.09

1.08

g/l

0.03

124

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.42

0.45

48.3

28.1

0.90

1.11

—

(3022313) Gas panel - Capillary blood

269

1.24

0.44

14.7

12.0

—

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

1.39

0.44

48.3

27.6

0.50

0.74

—

(3012516) Albumin [Mass/volume] in Urine

158

1.31

0.44

3.3

3.4

276.87

114.34

mg/l

0.48

108

(4035726)

0.65

0.44

1.7

—

(3005757) Coagulation factor V activity actual/normal in Platelet poor plasma by Coagulation assay

1.63

0.43

2.6

5.2

90.60

94.23

—

(3027231) Wheat IgE Ab [Units/volume] in Serum

1.63

0.43

1.0

1.4

—

(3042975) Streptococcus sp identified in Isolate by Organism specific culture

1.63

0.43

1.0

1.3

—

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

214

1.26

0.43

1.5

—

(3022145) Colonoscopy Study observation

1.39

0.43

1.5

1.4

—

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

758

1.18

0.42

11.6

9.5

98.96

96.65

ml/min/173m2

0.36

562

(3020393) Adenovirus Ag [Presence] in Stool

1.53

0.41

2.0

2.6

—

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

0.00

0.41

0.0

1.1

—

230.70

—

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

0.00

0.41

0.0

3.8

—

19.09

—

(3032352) Blasts [#/volume] in Cerebral spinal fluid

0.00

0.41

0.0

7.1

—

(3001684) Respiratory syncytial virus Ag [Presence] in Specimen

1.49

0.40

2.0

1.3

—

(4094501)

0.00

0.40

0.0

1.2

—

(43055554) Base excess.100% oxygenated [Moles/volume] standard in Capillary blood by calculation

301

1.21

0.40

16.6

12.0

0.75

1.06

mmol/l

0.27

218

(3037467) Urinalysis macro (dipstick) panel - Urine

791

1.17

0.39

3.6

4.6

—

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

516

0.84

0.39

1.7

2.0

—

(3009343) pH of Capillary blood

302

1.21

0.39

16.6

12.1

—

7.41

—

(3025023) Rhinovirus RNA [Presence] in Specimen by NAA with probe detection

1.40

0.38

1.8

—

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

1.30

0.37

6.4

5.0

—

(40768797) Stomach Pathology biopsy report

122

0.72

0.37

1.3

1.4

—

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

1.34

0.37

1.6

1.5

—

(3000492) Spirometry study

0.63

0.36

1.2

1.4

—

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

347

0.83

0.35

2.1

2.0

—

(3027945) Reticulocytes/100 erythrocytes in Blood

173

1.25

0.35

7.0

6.6

1.70

1.52

0.43

166

(3041096) Erythrocytes [Presence] in Urine by Automated

268

1.20

0.34

2.5

3.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

126

1298

0.82

0.34

22.7

17.3

37.98

38.79

0.60

112

1166

(3032773) Endomysium IgG Ab [Titer] in Serum

1.32

0.33

1.0

1.2

—

(3023410) Appearance of Cerebral spinal fluid

1.32

0.33

1.0

6.2

—

(36304419) Bacteria [Presence] in Urine

403

1.17

0.33

3.0

4.4

—

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

374

1.17

0.33

3.6

3.2

—

(3019250) Coagulation factor VIII activity actual/normal in Platelet poor plasma by Coagulation assay

1.32

0.31

3.9

7.8

156.00

165.30

0.26

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

130

0.75

0.31

1.7

1.6

—

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

829

0.88

0.30

3.3

3.2

1.24

1.18

mmol/l

0.41

784

(3022217) INR in Platelet poor plasma by Coagulation assay

1.26

0.30

5.0

13.8

—

1.24

—

(3005322) IgE [Units/volume] in Serum or Plasma

149

1.24

0.29

1.3

1.5

238.14

120.19

u/ml

0.51

138

(4010399)

0.69

0.27

1.2

1.4

—

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

0.67

0.26

1.4

1.5

—

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

0.67

0.26

1.4

1.5

—

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

0.67

0.26

1.4

1.5

—

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

0.67

0.26

1.4

1.5

—

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

1.21

0.25

2.0

1.9

—

(36660697) Celiac disease serology panel - Serum

219

1.17

0.24

1.3

1.2

—

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

396

0.88

0.23

1.7

1.8

—

(3002256) Pathology report gross observation

116

1.23

0.23

1.2

—

(3005772) Bilirubin.conjugated [Moles/volume] in Serum or Plasma

182

1.18

0.23

3.5

7.0

6.09

7.87

umol/l

0.32

149

(3045414) Leukocytes [Presence] in Urine

1.26

0.22

1.4

1.5

—

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

288

1.14

0.22

3.0

3.4

—

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

1.23

0.22

1.8

1.6

—

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

187

0.84

0.21

1.6

1.5

—

(40762485) Glomerular basement membrane Ab [Units/volume] in Serum by Immunoassay

0.00

0.21

0.0

1.0

—

(3007302) Hemoglobin [Mass/volume] in Mixed venous blood

0.00

0.21

0.0

2.7

—

(3001964) Herpes simplex virus Ag [Presence] in Specimen

0.00

0.21

0.0

2.5

—

(3036071) Salmonella sp Ab [Titer] in Serum

0.00

0.21

0.0

1.0

—

(3019497) Choriogonadotropin.beta subunit free [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.2

—

(42870298) TPMT gene c.238G>C+460G>A+719A>G [Identifier] in Blood or Tissue by Molecular genetics method Narrative

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

1.2

—

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

270

1.14

0.21

3.7

3.6

0.00

estimate

—

(40762119) U1 small nuclear ribonucleoprotein 70kD Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

(3035320) C reactive protein [Mass/volume] in Body fluid

0.00

0.21

0.0

1.8

—

(42869858) Acute and chronic leukemia fusion transcript panel - Blood or Tissue by Molecular genetics method

0.00

0.21

0.0

1.4

—

(3003752) BK virus DNA [Units/volume] (viral load) in Urine by NAA with probe detection

0.00

0.20

0.0

6.6

—

(3016031) Almond IgE Ab [Units/volume] in Serum

0.00

0.20

0.0

1.2

—

2.50

—

(3032390) JC virus DNA [#/volume] (viral load) in Urine by NAA with probe detection

0.00

0.20

0.0

6.6

—

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

0.00

0.20

0.0

1.8

—

(3019225) pH of Specimen

1.23

0.20

2.8

5.9

—

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

122

0.81

0.20

1.2

2.0

—

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

1.16

0.19

1.0

2.0

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.76

0.17

1.8

1.5

—

(3011288) Drugs identified in Urine by Screen method

0.72

0.17

1.8

—

(3008898) HLA-B27 [Presence]

0.72

0.17

1.0

—

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

130

1276

1.14

0.16

16.4

13.5

22.21

23.02

mg/l

0.11

104

939

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

1.16

0.15

1.1

2.2

—

(40761536) Microorganisms panel - Urine sediment

0.80

0.15

2.6

3.7

—

(3016879) Cocaine [Presence] in Urine

0.82

0.14

1.6

1.3

—

(3037522) Nuclear Ab [Titer] in Serum

161

1.13

0.13

1.6

1.4

288.00

677.04

titre

—

(40768804) Tissue Pathology biopsy report

384

0.92

0.13

1.6

1.8

—

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

137

0.87

0.12

1.0

1.1

—

(3023520) Reticulocytes [#/volume] in Blood

124

1.14

0.11

9.0

5.3

87.40

66.84

e9/l

—

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

319

1.09

0.11

3.7

3.5

—

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

292

1.08

0.09

1.6

1.8

96.49

96.15

pmol/l

0.01

159

(44806118)

1.07

0.09

2.0

2.3

—

(44790048)

1.07

0.09

2.0

2.3

—

(44790047)

1.07

0.09

2.0

2.3

—

(44790049)

1.07

0.09

2.0

2.3

—

(3022621) pH of Urine by Test strip

1.07

0.09

2.2

—

(3048689) Calprotectin [Mass/mass] in Stool

256

0.93

0.08

3.0

2.8

66.37

68.32

ug/g

0.04

208

(3005033) Fetal Nuchal fold Thickness US

0.80

0.08

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.80

0.08

1.4

—

(40761535) Cells panel - Urine sediment

0.77

0.08

8.0

3.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

225

0.92

0.08

1.5

1.8

—

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

1.05

0.08

1.1

1.9

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

0.85

0.08

1.5

1.2

—

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

0.83

0.07

1.1

1.6

—

(3027944) Amphetamines [Presence] in Urine

100

0.89

0.06

1.6

1.3

—

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

148

1.09

0.06

2.0

1.9

—

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

121

0.90

0.06

1.7

2.0

—

(3003031) Transferrin.carbohydrate deficient.disialo/Transferrin.total in Serum or Plasma

140

0.92

0.04

1.8

1.4

1.22

1.37

0.50

126

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

118

0.93

0.03

1.9

1.8

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

349

0.97

0.02

1.9

—

(3000924) Streptococcus pyogenes [Presence] in Throat by Organism specific culture

1.04

0.00

1.2

1.4

—

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

164

0.97

0.00

1.6

1.2

7.42

6.56

u/ml

—

(3013512) EKG study

153

0.98

0.00

4.1

3.1

—

(3015736) pH of Urine

435

1.02

0.00

3.7

3.3

—

(3010726) Horse dander IgE Ab [Units/volume] in Serum

102

0.98

0.00

1.3

1.2

4.24

4.72

u/ml

—

(3044290) Cell count panel - Cerebral spinal fluid

0.96

0.00

1.0

6.1

—

(3001820) Epstein Barr virus nuclear Ab [Presence] in Serum

0.00

0.0

1.8

—

(42868414) European tick borne encephalitis virus IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.3

—

(3030136) 5-Hydroxyindoleacetate [Moles/volume] in Serum or Plasma

0.00

0.0

1.6

—

83.60

—

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

0.00

0.0

1.3

—

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

1.00

0.00

2.0

2.3

—

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

0.00

0.0

1.0

—

(3010838) Calcium [Moles/time] in 24 hour Urine

0.00

0.0

1.2

—

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

1.00

0.00

1.9

2.1

—

(3018301) Testosterone Free [Moles/volume] in Serum or Plasma

0.00

0.0

1.2

—

(3035401) Herpes virus 6 DNA [Presence] in Specimen by NAA with probe detection

0.00

0.0

6.0

—

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

0.00

0.0

1.2

—

(3036782) Glucose [Moles/volume] in Pleural fluid

0.00

0.0

1.0

—

7.66

—

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

0.88

0.00

1.3

1.0

—

(3045066) Thymidine kinase [Enzymatic activity/volume] in Serum

0.00

0.0

1.0

—

8.84

—

(3017569) Oxygen content in Arterial blood

0.00

0.0

15.0

—

(3036048) Francisella tularensis Ab [Titer] in Serum

0.00

0.0

1.0

—

(3041082) Glomerular basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

0.0

1.0

—

(3039443) Prostate specific Ag panel - Serum or Plasma

0.00

0.0

1.8

—

(40768800) Prostate Pathology biopsy report

0.00

0.0

1.4

—

(40757578) FLT3 gene targeted mutation analysis in Bone marrow by Molecular genetics method

0.00

0.0

1.0

—

(37021550) Renin [Units/volume] in Plasma --upright

0.00

0.0

1.2

—

224.82

—

(3012320) Pathologist interpretation of Cerebral spinal fluid tests

0.00

0.0

2.9

—

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

0.00

0.0

1.8

—

(3033888) Pepsinogen I [Mass/volume] in Serum or Plasma

0.00

0.0

1.2

—

83.18

—

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

0.86

0.00

2.0

1.4

—

(3008536) Aspergillus sp Ab [Presence] in Serum

0.00

0.0

2.0

—

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

0.00

0.0

2.0

—

(3049506) Microalbumin [Mass/time] in Urine collected for unspecified duration

0.00

0.0

2.0

—

(3045716) Anion gap in Serum or Plasma

0.00

0.0

2.0

—

8.20

—

(3053028) Streptococcus sp identified in Specimen by Organism specific culture

0.00

0.0

1.1

—

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

1.02

0.00

2.2

1.6

—

(3004593) Baker's yeast IgA Ab [Units/volume] in Serum

0.00

0.0

1.0

—

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

0.95

0.00

1.5

1.4

—

(3006598) pH of Arterial cord blood

0.92

0.00

1.0

—

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

0.00

0.0

1.3

—

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

0.94

0.00

1.1

2.0

—

(21491868) Cryoglobulin [Mass/volume] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

10.9

—

(3011363) Streptococcus pneumoniae Ag [Presence] in Urine

0.00

0.0

1.0

—

(3027544) Mycobacterium sp identified in Sputum by Organism specific culture

0.00

0.0

4.2

—

(3023419) Bacteria identified in Sputum by Culture

0.00

0.0

10.1

—

(3029075) Extractable nuclear Ab panel - Serum

0.00

0.0

1.0

—

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

0.00

0.0

2.4

—

3.58

—

(3035947) Staphylolysin Ab [Units/volume] in Serum

0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.90

0.00

1.6

1.3

—

(4146454)

0.00

0.0

3.6

—

(3008364) Apolipoprotein A-I [Mass/volume] in Serum or Plasma

0.00

0.0

1.7

—

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

0.00

0.0

1.9

—

(3014791) Apolipoprotein B [Mass/volume] in Serum or Plasma

0.00

0.0

2.3

—

1.06

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.89

0.00

1.0

1.3

—

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

0.92

0.00

2.4

1.6

—

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

0.00

0.0

1.8

—

(42868674) Cholesterol in HDL/Cholesterol.total [Molar ratio] in Serum or Plasma

0.97

0.00

3.5

4.0

29.83

31.00

—

(42868415) European tick borne encephalitis virus IgM Ab [Presence] in Cerebral spinal fluid by Immunoassay

0.00

0.0

1.5

—

(3032185) JC virus DNA [#/volume] (viral load) in Serum or Plasma by NAA with probe detection

0.00

0.0

10.8

—

(3011831) Apolipoprotein B/Apolipoprotein A-I [Percentile]

0.00

0.0

1.8

—

(3000764) Benzodiazepines [Presence] in Urine

0.90

0.00

1.6

1.3

—

(42868417) European tick borne encephalitis virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.3

—

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

1.02

0.00

2.2

2.0

—

(3041806) Other cells [#/volume] in Blood by Manual count

0.00

0.0

2.2

—

(3041672) Baker's yeast Ab [Presence] in Serum

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

8.0

—

(3027008) Opiates [Presence] in Urine

0.90

0.00

1.6

1.3

—

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

0.96

0.00

1.1

1.9

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.9

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

Parameter	HR [95% CI]	p-value
Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED	5.266 [3.59, 7.72]	< 0.001
Birth year	0.986 [0.98, 1.0]	0.006

During the follow-up period (1.1.1998 — 31.12.2019), 81 out of 1126 males with Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED died.

Mortality risk

Mortality risk for people of age

years, who have Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED.

N-year risk	Females	Males
1	No data	1.035%
5	No data	6.0%
10	No data	13.624%
15	No data	24.885%
20	No data	40.393%

Relationships between endpoints

↥

Index endpoint: Q17_OTHER_CHROMOSOME_ABNORMALITI_NOT_ELSEW_CLASSIFIED – Other chromosome abnormalities, not elsewhere classified

GWS hits: 1

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

Other chromosome abnormalities, not elsewhere classified

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