Monosomies and deletions from the autosomes, not elsewhere classified

Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED

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 — Q93 Cause of death: ICD-10 — Q93 2 out of 7 registries used, show all original rules.	92
4. Check minimum number of events None	92
5. Include endpoints None	92
6. Filter based on genotype QC (FinnGen only)	92

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: Monosomiae et deletiones de autosomatibus non alibi classificatae

NAME	Q17_MONOSOMI_DELET_AUTOSOMES_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	Q93
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q93
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 Monosomies and deletions from the autosomes, 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	1687	846	840
Only index persons	1046	551	495
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.02
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	6.16	6.24	6.05
Only index persons	10.23	10.95	9.42

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	92	48	44
Unadjusted period prevalence (%)	0.02	0.02	0.02
Median age at first event (years)	9.91	9.32	10.55

-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
79: Matched controls
789

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q93.8

ICD-10 Finland

Other deletions from the autosomes

+∞

45.2

Q93.5

ICD-10 Finland

Other deletions of part of a chromosome

+∞

32.6

Z31.5

ICD-10 Finland

Genetic counselling

22.9

25.7

F83

ICD-10 Finland

Mixed specific developmental disorders

11.8

14.5

F79.0

ICD-10 Finland

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

21.2

11.8

F79.9

ICD-10 Finland

Unspecified mental retardation, without mention of impairment of behaviour

46.4

10.3

Z01.0

ICD-10 Finland

Examination of eyes and vision

5.3

9.6

R5110

NOMESCO Finland

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

8.3

9.3

R62.0

ICD-10 Finland

Delayed milestone

6.9

9.2

L28

ICPC

Limited function/disability (L)

8.0

8.7

XF400

NOMESCO Finland

ECG with 12 standard connections

4.7

8.6

115

Q99.8

ICD-10 Finland

Other specified chromosome abnormalities

+∞

8.5

Z01.1

ICD-10 Finland

Examination of ears and hearing

4.5

8.3

118

F70.0

ICD-10 Finland

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

25.1

8.3

WX408

NOMESCO Finland

General anesthesy, balanced

4.0

7.9

188

NA7EA

NOMESCO Finland

Scoliosis X-ray examination

21.0

7.8

R4110

NOMESCO Finland

Physiotherapy

4.0

7.7

154

H52.2

ICD-10 Finland

Astigmatism

11.1

7.7

R2130

NOMESCO Finland

Counselling and guidance which enhance independent living

4.7

7.6

Q93.0

ICD-10 Finland

Whole chromosome monosomy, meiotic nondisjunction

+∞

7.4

XA800

NOMESCO Finland

Neuropsychological investigation

5.2

7.4

C03CA01

ATC

furosemide; systemic

9.0

7.3

NK6MA

NOMESCO Finland

Measurement of bone age from hand and elbow using X-ray

5.9

7.1

Z50.8

ICD-10 Finland

Care involving use of other rehabilitation procedures

5.9

7.1

GD1AA

NOMESCO Finland

Thorax X-ray examination

3.7

7.0

163

WYA30

NOMESCO Finland

Preparations for expected poor cooperation

5.3

6.8

F79.1

ICD-10 Finland

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

29.3

6.4

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

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

3.99

6.83

4.3

7.5

443.1

883.1

ng/l

1.05

(3032080) INR in Blood by Coagulation assay

157

3.12

6.24

9.9

4.2

1.0

1.3

inr

—

(3052851) Hemolysis interference index of Serum or Plasma

4.61

4.79

1.4

3.0

—

(3014326) Insulin-like growth factor-I [Moles/volume] in Serum or Plasma

3.37

4.27

6.2

4.1

23.3

21.1

nmol/l

0.24

(3026008) Bacteria identified in Urine by Culture

149

2.50

3.82

3.7

3.1

—

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

3.79

3.76

6.1

3.1

205.2

150.3

ng/l

0.24

(42870588) Differential panel, method unspecified - Blood

344

2.28

3.62

7.6

13.3

—

(3023368) Bacteria identified in Blood by Culture

149

2.38

3.39

6.8

4.0

—

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

277

2.13

3.11

3.7

5.1

—

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

3.62

3.00

1.6

1.2

—

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

3.62

3.00

1.6

1.2

—

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

7.04

2.91

4.7

2.1

12.1

11.1

umol/l

—

(3021347) Calcium.ionized [Moles/volume] in Serum or Plasma

346

2.06

2.90

17.9

17.1

1.2

mmol/l

0.74

334

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

363

1.99

2.66

16.3

16.5

1.2

mmol/l

0.26

345

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

3.87

2.65

3.8

3.7

1.4

1.6

umol/l

—

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

2.72

2.59

3.0

2.8

9.2

4.8

u/l

—

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

168

2.06

2.46

2.7

3.5

—

(3013512) EKG study

2.48

2.44

4.1

3.3

—

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

744

2.87

2.37

19.7

12.5

29.8

24.6

mg/l

0.71

525

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

4.85

2.31

1.5

1.7

—

(3002582) Erythrocytes [#/volume] in Urine

249

1.90

2.25

5.0

5.8

39.1

24.1

e6/l

0.24

190

(3044640) Blood type and Crossmatch panel - Blood

198

1.94

2.24

3.2

3.8

—

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

232

1.91

2.24

5.1

5.7

0.2

0.3

e6/l

0.28

172

(4062490)

3.90

2.20

1.4

1.3

—

(3051651) Icteric interference index of Serum or Plasma

4.50

2.19

1.3

3.2

—

(3051611) Lipemic interference index of Serum or Plasma

4.50

2.19

1.5

3.4

—

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

260

1.87

2.18

4.8

5.9

—

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

3.70

2.10

3.7

6.5

4.1

2.7

ug/l

—

(3038515) Glucose [Moles/volume] in Venous blood

5.21

2.10

3.8

14.6

6.4

5.8

mmol/l

—

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

5.21

2.10

1.8

14.8

—

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

130

2.03

2.06

3.1

5.9

1.5

2.6

mg/l

0.35

103

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

179

1.91

2.02

4.0

4.1

2.7

2.8

mg/l

0.04

158

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

2.91

1.99

4.4

4.8

—

(40761511) CBC panel - Blood by Automated count

741

2.53

1.97

17.3

8.6

—

(36305247) Microscopic observation [Identifier] in Isolate by Gram stain

3.93

1.97

1.7

1.8

—

(3018993) Complement total hemolytic CH100 [Units/volume] in Serum or Plasma

4.34

1.85

1.4

1.0

—

(44817194) Complement alternate pathway AH50 actual/normal in Serum by Immunoassay

4.34

1.85

1.4

1.0

78.2

88.4

—

(3008037) Lactate [Moles/volume] in Venous blood

4.34

1.85

3.8

14.5

1.5

1.1

mmol/l

—

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

2.92

1.84

2.9

2.6

—

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

611

1.94

1.80

5.4

3.8

2.2

2.0

mu/l

0.54

571

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

0.00

1.76

0.0

1.6

—

(3006315) Basophils [#/volume] in Blood

460

1.71

1.64

9.6

11.8

0.0

e9/l

0.00

377

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

165

1.80

1.64

5.0

5.6

2.1

1.5

e6/l

0.25

105

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

3.13

1.61

2.0

7.2

95.7

94.8

—

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

2.43

1.59

1.5

1.2

—

(3014133) Dog dander IgE Ab [Units/volume] in Serum

0.00

1.57

0.0

1.1

—

9.4

—

(1616796) Gas panel - Central venous blood

3.46

1.54

1.6

9.4

—

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

2.98

1.53

3.8

4.2

22.5

31.2

umol/l

—

(3007853) Bacteria identified in Skin by Aerobe culture

104

1.91

1.50

2.4

1.6

—

(36304419) Bacteria [Presence] in Urine

233

1.65

1.41

5.1

5.5

—

(3013115) Eosinophils [#/volume] in Blood

471

1.63

1.40

9.9

12.7

0.2

e9/l

0.91

395

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

164

1.72

1.40

5.2

4.9

1.4

0.5

e6/l

0.97

101

(3001604) Monocytes [#/volume] in Blood

462

1.61

1.38

9.6

11.7

0.6

e9/l

0.53

379

(3021589) Normoblasts [#/volume] in Blood

442

1.61

1.38

13.9

14.3

0.0

e9/l

0.00

326

(3006217) Methemoglobin/Hemoglobin.total in Arterial blood

2.26

1.38

20.6

16.4

0.6

0.7

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

1.38

0.0

1.5

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

1.38

0.0

1.4

—

(3005033) Fetal Nuchal fold Thickness US

0.00

1.38

0.0

1.4

—

(3019198) Lymphocytes [#/volume] in Blood

473

1.61

1.36

9.7

11.7

2.1

2.5

e9/l

1.37

404

(3023430) Cat dander IgE Ab [Units/volume] in Serum

0.00

1.36

0.0

1.1

—

4.4

—

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

0.00

1.35

0.0

1.5

—

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

0.00

1.35

0.0

1.5

—

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

0.00

1.35

0.0

1.5

—

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

0.00

1.35

0.0

1.5

—

(3005136) Cladosporium herbarum IgE Ab [Units/volume] in Serum

0.00

1.35

0.0

1.1

—

0.6

—

(3000494) Fungus identified in Specimen by Culture

2.08

1.35

1.8

1.4

—

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

330

0.60

1.31

2.0

—

(3002032) Base excess in Venous blood by calculation

202

1.64

1.29

6.8

13.7

1.3

0.8

mmol/l

0.47

157

(3000991) Gas panel - Venous blood

186

1.64

1.26

11.8

12.7

—

(3018418) pH of Serum or Plasma

135

1.72

1.25

10.4

4.1

7.4

—

(3018095) Leukocytes [#/volume] in Urine

285

1.57

1.25

6.6

7.1

77.3

37.0

e6/l

0.52

194

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

2.21

1.22

22.6

15.9

—

(3022621) pH of Urine by Test strip

0.00

1.17

0.0

2.0

—

(3014007) Fractional oxyhemoglobin in Arterial blood

2.09

1.15

23.0

17.1

94.1

94.9

—

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

139

1.66

1.13

2.7

1.6

83.2

91.8

pmol/l

0.58

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

1.91

1.11

3.8

9.0

195.8

170.3

0.32

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

1.81

1.09

2.9

2.0

—

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

1.81

1.09

2.9

2.0

—

(3037467) Urinalysis macro (dipstick) panel - Urine

448

1.50

1.07

4.8

5.0

—

(3044290) Cell count panel - Cerebral spinal fluid

2.08

1.02

1.3

6.8

—

(3000515) Antithrombin actual/normal in Platelet poor plasma by Chromogenic method

1.76

1.01

3.9

8.9

96.4

89.6

0.45

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

110

1.67

0.99

2.2

2.1

17.4

21.0

ng/l

—

(3023421) Hepatitis B virus surface Ab [Units/volume] in Serum

0.00

0.99

0.0

1.5

—

198.5

—

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

534

1.49

0.98

5.5

3.3

14.5

14.4

pmol/l

0.16

494

(3014218) Bicarbonate [Moles/volume] standard in Arterial blood

1.99

0.91

23.3

16.5

23.4

23.9

mmol/l

—

(3028653) Carboxyhemoglobin/Hemoglobin.total in Arterial blood

1.99

0.91

23.0

16.4

1.0

1.1

—

(3030981) Hyaline casts [#/volume] in Urine by Automated count

2.14

0.91

3.2

4.8

0.1

0.0

e6/l

—

(40761536) Microorganisms panel - Urine sediment

1.94

0.90

3.5

3.9

—

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

2.00

0.86

2.8

2.0

—

(3025941) Bacteria identified in Stool by Culture

1.93

0.83

1.2

—

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

1.93

0.83

1.2

—

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

1.93

0.83

7.0

15.8

64.0

58.5

—

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

493

1.41

0.81

12.5

14.9

3.5

3.6

e9/l

0.29

408

(40760892) CBC W Ordered Manual Differential panel - Blood

142

1.52

0.81

6.6

7.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

134

0.56

0.81

1.3

1.7

—

(3010156) C reactive protein [Mass/volume] in Serum or Plasma by High sensitivity method

0.00

0.80

0.0

1.5

—

2.9

—

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

0.00

0.80

0.0

1.8

—

(3015736) pH of Urine

233

1.43

0.79

3.9

3.7

—

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

203

0.63

0.79

2.5

1.9

—

(40768797) Stomach Pathology biopsy report

1.74

0.77

1.6

1.4

—

(3042936) Bacteria identified in Isolate by Culture

1.64

0.77

2.8

1.9

—

(4035726)

1.91

0.75

1.4

1.9

—

(3024928) Oxygen saturation in Venous blood

2.06

0.74

8.0

32.7

—

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

102

1.56

0.73

2.9

2.1

—

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

1.90

0.69

1.0

1.2

—

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

296

1.36

0.67

2.6

1.9

1.7

1.5

g/l

0.21

144

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

1.64

0.67

1.0

2.3

—

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

753

0.71

0.65

4.2

3.9

—

(3023520) Reticulocytes [#/volume] in Blood

1.56

0.65

4.2

6.9

53.4

65.8

e9/l

—

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

0.00

0.61

0.0

1.3

—

0.0

—

(3010375) cycloSPORINE [Mass/volume] in Blood

0.00

0.60

0.0

39.5

—

154.2

—

(3007628) Bicarbonate [Moles/volume] standard in Venous blood

189

1.37

0.57

5.4

12.4

24.0

23.5

mmol/l

0.36

182

(3009542) Hematocrit [Volume Fraction] of Blood

789

1.53

0.57

27.0

17.6

38.6

39.0

0.21

716

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

460

1.30

0.56

4.0

2.6

5.8

5.5

mmol/l

0.67

424

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

221

1.31

0.50

13.3

17.1

24.4

24.8

mmol/l

0.24

221

(3035637) Corticotropin [Mass/volume] in Plasma

1.50

0.48

1.6

1.8

—

(3023410) Appearance of Cerebral spinal fluid

1.65

0.44

1.4

6.8

—

(3032773) Endomysium IgG Ab [Titer] in Serum

1.59

0.43

1.0

1.1

—

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

0.00

0.41

0.0

2.3

—

(3035933) Granulocytes/100 leukocytes in Blood

0.00

0.41

0.0

1.2

—

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

0.00

0.41

0.0

2.4

—

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

0.00

0.41

0.0

1.6

—

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

0.00

0.40

0.0

1.3

—

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

1.45

0.40

1.0

1.3

—

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

0.00

0.39

0.0

4.4

—

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

296

1.24

0.38

6.6

6.3

0.0

estimate

—

(3011288) Drugs identified in Urine by Screen method

1.46

0.36

1.5

1.6

—

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

241

1.23

0.35

1.4

1.8

—

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

0.64

0.34

1.0

1.1

—

(3013603) Prostate specific Ag [Mass/volume] in Serum or Plasma

1.37

0.32

2.0

3.4

0.9

1.7

ug/l

—

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

1.35

0.31

1.7

1.6

—

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

1.32

0.31

1.0

1.2

—

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

1.27

0.30

1.4

2.2

—

(3016879) Cocaine [Presence] in Urine

1.32

0.29

1.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

1.25

0.28

1.0

1.3

—

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

295

1.19

0.27

4.0

4.3

0.0

estimate

—

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

396

1.16

0.25

18.9

6.6

102.4

102.6

ml/min/173m2

0.02

279

(3044889) 12 lead EKG panel

298

1.17

0.24

3.9

2.1

—

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

298

1.17

0.24

4.0

4.3

0.0

estimate

—

(3022313) Gas panel - Capillary blood

182

1.20

0.24

13.0

9.6

—

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

1.37

0.24

2.2

2.1

—

(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

1.33

0.23

3.0

1.7

—

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

1.30

0.23

2.2

—

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

0.00

0.21

0.0

7.7

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.21

0.0

2.0

—

(3023530) 17-Hydroxyprogesterone [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

2.2

—

1.8

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.2

—

(3002670) Multiple inhalant allergen IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

3.4

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.2

—

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

0.00

0.21

0.0

1.9

—

(3019539) Treponema pallidum Ab [Titer] in Serum by Hemagglutination

0.00

0.21

0.0

2.2

—

(40767663) Brazil Nut recombinant (rBer e) 1 IgE Ab [Units/volume] in Serum

0.00

0.21

0.0

1.1

—

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

0.00

0.21

0.0

5.8

—

(4268621)

0.00

0.21

0.0

2.3

—

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

0.00

0.21

0.0

5.8

—

(3014037) CD3+CD4+ (T4 helper) cells/100 cells in Blood

0.00

0.21

0.0

1.7

—

42.9

—

(3005715) Vancomycin [Mass/volume] in Serum or Plasma

0.00

0.21

0.0

7.7

—

8.3

—

(3046294) Neutrophil cytoplasmic Ab.classic [Titer] in Serum

0.00

0.21

0.0

1.4

—

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

164

0.83

0.20

2.3

1.8

—

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

0.00

0.20

0.0

1.1

—

(3026048) Bordetella pertussis IgG Ab [Units/volume] in Serum

0.00

0.20

0.0

1.0

—

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

111

1.20

0.17

2.3

1.5

—

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

140

1.17

0.16

2.7

4.3

0.0

estimate

—

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

0.81

0.15

1.6

1.4

—

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

190

1.14

0.14

3.5

3.6

—

(40758558) Short blood count panel - Blood

279

1.11

0.13

10.8

11.5

—

(36660697) Celiac disease serology panel - Serum

143

1.14

0.12

1.2

—

(3041096) Erythrocytes [Presence] in Urine by Automated

135

1.13

0.10

4.3

3.4

—

(3041008) Bicarbonate [Moles/volume] standard in Arterial cord blood

1.09

0.10

1.0

16.8

19.3

mmol/l

—

(3006598) pH of Arterial cord blood

1.07

0.09

1.0

—

(3000492) Spirometry study

1.04

0.09

1.2

1.4

—

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

1.12

0.09

1.2

2.2

—

(3028300) Cannabinoids [Presence] in Urine

1.08

0.08

1.0

1.3

—

(3027008) Opiates [Presence] in Urine

1.08

0.08

1.0

1.3

—

(3000764) Benzodiazepines [Presence] in Urine

1.07

0.08

1.0

1.3

—

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

177

1.09

0.07

3.6

4.3

—

(3020961) Endomysium IgA Ab [Titer] in Serum

1.13

0.07

1.2

1.5

—

14.2

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

221

0.94

0.05

2.3

1.9

—

(1761868) Lipid panel - Serum or Plasma

160

0.93

0.04

4.7

2.0

—

(40768804) Tissue Pathology biopsy report

180

1.07

0.04

1.6

1.8

—

(42870560) Thyrotropin [Units/volume] in Cord blood

0.90

0.00

1.0

6.5

8.7

mu/l

—

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

0.84

0.00

1.4

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3032155) Metanephrine Free [Moles/volume] in Serum or Plasma

0.00

0.0

2.3

—

(3005229) Alpha 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

7.0

—

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

0.00

0.0

1.5

—

(3049714) Procollagen type I.N-terminal propeptide [Mass/volume] in Serum

0.00

0.0

6.3

—

215.3

—

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

0.92

0.00

1.1

1.9

—

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

0.00

0.0

1.1

—

4.0

—

(3021952) Alkaline phosphatase isoenzymes [Enzymatic activity/volume] in Serum or Plasma by Heat stability

0.00

0.0

1.2

—

(3026820) Hemoglobin [Mass/volume] in Venous cord blood

0.00

0.0

1.0

—

153.2

—

(3023420) DNA double strand Ab [Units/volume] in Serum

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.4

—

(3002256) Pathology report gross observation

0.89

0.00

1.0

1.1

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

319.4

—

(3002619) Bacteria identified in Specimen by Culture

0.00

0.0

1.4

—

(3013727) Leukocytes other/100 leukocytes in Blood

0.00

0.0

4.0

—

25.6

—

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

0.00

0.0

1.0

—

0.0

—

(3015322) Alpha 1 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

2.8

—

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

0.00

0.0

1.0

—

(3024172) Erythropoietin (EPO) [Units/volume] in Serum or Plasma

0.00

0.0

1.3

—

9.6

—

(3005082) Progesterone [Moles/volume] in Serum or Plasma

0.00

0.0

1.0

—

28.8

—

(3023465) Gamma globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

10.9

—

(3040363) Hepatitis A virus IgG Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.0

—

(3006462) Nitrate [Presence] in Urine

0.00

0.0

1.0

—

(3043747) Beta 2 globulin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

3.8

—

(40765096) Chromosome analysis panel by Banding

0.00

0.0

1.6

—

(4211845)

0.00

0.0

1.0

—

(3028286) Albumin [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

41.0

—

(44816893) Food Allergen Mix 50 (Kiwi+Pineapple+Banana+Mango) IgE Ab [Units/volume] in Serum by Multidisk

0.00

0.0

1.0

—

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

0.94

0.00

4.3

2.2

1.4

—

(3029338) Protein.monoclonal band 3 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.0

—

(3007798) IgG/Albumin [Mass Ratio] in Cerebral spinal fluid

0.00

0.0

1.0

—

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

0.90

0.00

2.0

1.6

—

(3040893) Potassium [Moles/volume] in Capillary blood

0.00

0.0

1.5

—

4.4

—

(3045683) HLA typing for celiac disease panel - Blood or Tissue

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

9.3

—

(3002621) Streptococcal DNAse B [Units/volume] in Serum

0.00

-0.00

0.0

1.4

—

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

0.00

-0.00

0.0

1.4

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED.

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: Q17_MONOSOMI_DELET_AUTOSOMES_NOT_ELSEW_CLASSIFIED – Monosomies and deletions from the autosomes, not elsewhere classified

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

Monosomies and deletions from the autosomes, 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