Balanced rearrangements and structural markers, not elsewhere classified

Q17_BALANC_REARR_STRUCTURAL_MARKERS_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	519972
1. Apply sex-specific rule None	519972
2. Check conditions None	519972
3. Check pre-conditions, main-only, mode, registry filters Registry filters: Hospital discharge: ICD-10 — Q95 Cause of death: ICD-10 — Q95 2 out of 7 registries used, show all original rules.	142
4. Check minimum number of events None	142
5. Include endpoints None	142
6. Filter based on genotype QC (FinnGen only)	134

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: Translocationes aequatae et signacula structuralia sine effectu ad phaenotypum non alibi classificata

NAME	Q17_BALANC_REARR_STRUCTURAL_MARKERS_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	Q95
HD_ICD_9
HD_ICD_8
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	Q95
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 Balanced rearrangements and structural markers, 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	1147	633	509
Only index persons	1063	592	471
Unadjusted period prevalence (%)
Whole population	0.02	0.02	0.01
Only index persons	0.02	0.02	0.02
Median age at first event (years)
Whole population	27.61	28.64	26.27
Only index persons	28.42	28.93	27.79

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	134	92	42
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	31.83	29.74	36.39

-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

↥

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
142: Matched controls
1420

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Z31.5

ICD-10 Finland

Genetic counselling

58.6

137.8

Q95.0

ICD-10 Finland

Balanced translocation and insertion in normal individual

+∞

117.6

Q95.1

ICD-10 Finland

Chromosome inversion in normal individual

+∞

18.1

O35.1

ICD-10 Finland

Maternal care for (suspected) chromosomal abnormality in fetus

24.3

15.2

Q95.8

ICD-10 Finland

Other balanced rearrangements and structural markers

+∞

14.8

N96

ICD-10 Finland

Habitual aborter

55.5

13.1

MAA10

NOMESCO Finland

Biopsy of chorionic villus

118.4

10.6

Q95.2

ICD-10 Finland

Balanced autosomal rearrangement in abnormal individual

+∞

10.5

R2110

NOMESCO Finland

Giving the first information

5.5

9.1

MA4AT

NOMESCO Finland

Chorion biopsy with ultrasound guidance

53.4

8.8

N97.9

ICD-10 Finland

Female infertility, unspecified

4.9

8.5

O02.1

ICD-10 Finland

Missed abortion

4.2

8.3

LC2AE

NOMESCO Finland

Ultrasound examination of uterus and parametria

3.6

7.7

Z82.7

ICD-10 Finland

Family history of congenital malformations, deformations and chromosomal abnormalities

26.7

7.7

MAA00

NOMESCO Finland

Amniocentesis

8.0

7.4

N46

ICD-10 Finland

Male infertility

21.3

7.2

N97.8

ICD-10 Finland

Female infertility of other origin

9.0

7.0

H01CA02

ATC

nafarelin; nasal

7.8

6.9

Z36.0

ICD-10 Finland

Antenatal screening for chromosomal anomalies

3.4

6.5

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

28.61

16.59

1.0

—

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

4.57

6.76

1.4

1.3

2.51

3.10

ug/l

0.37

(40765091) Chromosome analysis panel - Chorionic villus sample by G-banded

+∞

6.29

1.3

0.0

—

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

3.81

5.36

1.8

1.4

—

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

5.63

5.24

1.4

1.3

—

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

117

2.50

3.87

1.7

1.6

—

(3026725) Estradiol (E2) [Moles/volume] in Serum or Plasma

3.52

2.88

1.8

1.6

0.43

0.49

nmol/l

0.11

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

120

2.20

2.81

1.1

1.3

57.55

120.40

iu/ml

—

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

386

1.64

2.08

2.2

1.7

—

(3030905) Polymorphonuclear cells [#/volume] in Blood

3.62

2.08

2.7

3.3

4.10

4.05

e9/l

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

3.62

2.08

2.7

3.5

57.57

55.45

—

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

214

1.77

2.08

1.8

1.6

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.32

2.02

1.1

—

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

2.48

2.01

2.8

6.7

24.50

24.05

mmol/l

0.27

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

3.64

1.86

1.0

1.8

—

(46235689) Lupus anticoagulant aPTT, dRVVT and PT screening panel W Reflex

3.43

1.76

2.0

2.3

—

(3002256) Pathology report gross observation

113

1.90

1.71

1.2

—

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

1.94

1.66

1.6

—

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

514

1.49

1.51

2.5

2.8

—

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

467

1.49

1.51

2.3

2.1

—

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

2.39

1.46

1.7

—

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

1.90

1.44

1.8

1.6

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

1.35

0.0

1.2

—

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

132

1.69

1.29

3.0

2.2

36934.22

4129.13

u/l

—

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

225

1.55

1.27

1.7

1.5

—

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

155

0.49

1.22

1.4

1.6

—

(44816844) Macroprolactin [Units/volume] in Serum or Plasma

2.36

1.20

1.8

1.2

—

(40761511) CBC panel - Blood by Automated count

132

1239

1.93

1.19

8.9

9.6

—

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

1.83

1.18

1.6

1.5

—

(3000991) Gas panel - Venous blood

1.92

1.17

15.9

15.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.55

1.16

1.2

1.1

—

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

2.55

1.16

1.8

1.3

—

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

116

1059

1.52

1.12

4.5

4.4

1.71

1.75

mu/l

0.17

105

1001

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

121

0.47

1.11

1.5

—

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

881

1.41

1.06

4.0

14.80

14.37

pmol/l

1.04

821

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

1.74

1.02

2.9

—

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

144

1.54

0.94

1.5

1.4

—

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

240

1.43

0.94

1.9

2.2

—

(3002032) Base excess in Venous blood by calculation

1.69

0.88

3.8

5.7

1.54

1.85

mmol/l

0.13

(40768804) Tissue Pathology biopsy report

402

1.33

0.84

1.9

—

(3004588) Protein electrophoresis panel - Serum or Plasma

1.91

0.83

1.2

2.1

—

(3019832) Treponema pallidum Ab [Presence] in Serum

338

1.34

0.81

1.9

1.7

—

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

1.64

0.81

3.9

5.5

6.02

5.91

kpa

0.14

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

1.85

0.80

7.5

33.1

—

(36660697) Celiac disease serology panel - Serum

133

1.49

0.78

1.3

1.1

—

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

368

1.33

0.78

7.3

8.0

1.22

mmol/l

0.10

343

(3032836) C peptide [Moles/volume] in Serum or Plasma --fasting

0.00

0.78

0.0

1.2

—

1.02

—

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

1.66

0.77

2.2

3.0

0.24

0.23

g/l

0.37

(3022217) INR in Platelet poor plasma by Coagulation assay

342

1.32

0.75

5.7

9.6

1.03

1.15

inr

1.61

111

(4200892) Spirometry reversibility

1.72

0.74

1.2

1.4

—

(3052851) Hemolysis interference index of Serum or Plasma

1.96

0.71

2.6

2.7

—

(3015816) F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method

1.88

0.69

1.0

—

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

1.56

0.69

1.0

—

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

101

0.58

0.65

2.2

1.8

—

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

1.75

0.64

1.0

1.1

—

(3044640) Blood type and Crossmatch panel - Blood

322

1.29

0.63

1.8

2.3

—

(3042206) Streptococcus agalactiae Ag [Presence] in Vaginal fluid

1.64

0.62

1.1

—

(3014576) Chloride [Moles/volume] in Serum or Plasma

1.55

0.62

13.8

9.4

104.75

104.41

mmol/l

0.09

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

221

1.33

0.62

2.1

1.8

—

(3036489) Thrombin time

1.60

0.61

2.1

4.0

20.88

20.89

—

(3043409) Potassium [Moles/volume] in Arterial blood

0.00

0.61

0.0

5.1

—

3.84

—

(3005895) Myoglobin [Mass/volume] in Serum or Plasma

0.00

0.61

0.0

2.9

—

188.38

—

(3006262) Parainfluenza virus 3 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.61

0.0

2.1

—

(3012158) Parainfluenza virus 2 RNA [Presence] in Specimen by NAA with probe detection

0.00

0.61

0.0

2.1

—

(3002148) Methylenedioxymethamphetamine [Presence] in Urine by Screen method

0.00

0.60

0.0

1.3

—

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

0.00

0.59

0.0

4.7

—

1.39

—

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

1.51

0.58

1.1

1.3

—

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

431

1.25

0.57

1.9

1.8

—

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

1.65

0.56

1.0

1.4

—

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

562

0.80

0.56

4.7

3.1

0.00

estimate

-0.00

111

(3004119) Hemoglobin [Mass/volume] in Venous blood

1.56

0.53

3.7

3.9

138.33

131.21

g/l

—

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

558

0.81

0.52

6.4

4.2

0.00

0.01

estimate

0.50

117

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

143

0.68

0.50

1.8

5.6

0.88

0.82

mmol/l

—

137

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

165

0.70

0.50

1.0

1.6

385.58

443.03

pmol/l

0.58

155

(3045414) Leukocytes [Presence] in Urine

1.58

0.49

1.6

—

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

556

0.82

0.49

4.7

3.0

0.00

estimate

-0.00

118

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

1.39

0.44

1.4

—

(3022313) Gas panel - Capillary blood

1.48

0.44

2.6

5.3

—

(3024889) Methemoglobin/Hemoglobin.total in Venous blood

1.63

0.43

4.2

3.8

0.62

0.71

—

(3022145) Colonoscopy Study observation

1.39

0.43

1.0

1.3

—

(3024354) Oxygen [Partial pressure] in Venous blood

1.46

0.43

4.3

5.8

5.09

4.68

kpa

—

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

1.43

0.43

1.1

1.6

—

(3018095) Leukocytes [#/volume] in Urine

385

1.21

0.43

3.4

3.0

13.55

42.08

e6/l

1.42

258

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.58

0.42

4.2

3.7

0.96

1.49

—

(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

1.58

0.42

1.2

1.5

—

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

281

1.23

0.41

3.1

2.5

0.19

0.31

e6/l

0.56

214

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

0.00

0.41

0.0

2.3

—

7.26

—

(3008832) Norclozapine [Moles/volume] in Serum or Plasma

0.00

0.41

0.0

13.2

—

728.44

—

(3000081) cloZAPine [Moles/volume] in Serum or Plasma

0.00

0.41

0.0

15.0

—

1278.25

—

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

0.00

0.41

0.0

1.0

—

(3001405) CD3+CD8+ (T8 suppressor) cells [#/volume] in Blood

0.00

0.41

0.0

2.4

—

613.18

—

(3025271) CD3-CD16+CD56+ (Natural killer) cells [#/volume] in Blood

0.00

0.41

0.0

2.4

—

0.21

—

(3011412) CD3 cells [#/volume] in Blood

0.00

0.41

0.0

2.4

—

1.55

—

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

1.35

0.41

7.3

8.5

27.30

24.92

mmol/l

—

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

0.00

0.41

0.0

2.2

—

1.20

—

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

179

1.27

0.40

1.9

1.7

—

(3023150) Myeloperoxidase Ab [Units/volume] in Serum

0.00

0.40

0.0

1.7

—

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

0.00

0.40

0.0

1.8

—

(40758558) Short blood count panel - Blood

277

0.80

0.40

5.5

5.9

—

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

292

1.22

0.40

1.6

1.4

—

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

0.00

0.39

0.0

2.0

—

8.87

—

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

122

1176

1.27

0.39

11.1

10.5

19.90

20.19

mg/l

0.04

864

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

408

1.19

0.38

7.3

8.0

1.22

mmol/l

0.23

352

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

1.40

0.38

1.2

1.6

—

(3002582) Erythrocytes [#/volume] in Urine

312

1.21

0.38

3.0

2.6

24.80

243.99

e6/l

0.55

243

(3044889) 12 lead EKG panel

624

1.17

0.38

2.7

2.8

—

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

162

1.27

0.38

2.6

3.2

733.63

380.64

ng/l

—

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

296

0.81

0.37

5.1

3.2

0.00

0.01

estimate

0.50

111

(3020059) Calcium [Moles/volume] corrected for albumin in Serum or Plasma

134

0.73

0.37

1.7

2.4

2.48

2.40

mmol/l

—

115

(3019225) pH of Specimen

1.40

0.35

2.0

5.0

—

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

112

1074

1.20

0.35

4.0

—

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

393

1.17

0.34

1.7

—

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

302

0.83

0.32

1.7

123.03

93.50

pmol/l

1.22

164

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

260

1.20

0.32

1.9

2.1

0.70

0.79

mg/l

0.15

183

(3021589) Normoblasts [#/volume] in Blood

522

1.15

0.32

7.2

7.9

0.00

e9/l

0.50

423

(3000494) Fungus identified in Specimen by Culture

111

1.29

0.31

1.5

1.6

—

(3001122) Ferritin [Mass/volume] in Serum or Plasma

612

1.15

0.31

2.9

67.25

69.95

ug/l

0.09

579

(36304419) Bacteria [Presence] in Urine

290

1.18

0.30

3.2

2.5

—

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

140

0.77

0.29

1.7

1.9

—

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

1.29

0.28

1.8

2.1

—

(3041096) Erythrocytes [Presence] in Urine by Automated

349

0.86

0.27

2.9

2.3

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

105

1.26

0.26

1.6

1.5

—

(3018418) pH of Serum or Plasma

247

1.17

0.25

3.3

2.9

7.39

7.40

—

(3026008) Bacteria identified in Urine by Culture

305

1.15

0.25

3.9

2.1

—

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

0.70

0.24

5.2

2.7

10.57

9.84

g/l

—

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

438

0.88

0.24

4.7

2.9

—

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

1.36

0.24

1.2

1.5

—

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

1.33

0.23

1.2

2.5

—

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

1.29

0.23

1.0

1.4

—

(3013512) EKG study

209

0.84

0.23

2.5

2.9

—

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

1.26

0.22

1.6

—

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

588

0.89

0.22

5.8

5.7

5.91

6.39

mmol/l

1.05

519

(1761868) Lipid panel - Serum or Plasma

446

0.89

0.22

2.1

2.2

—

(40768443) Skin Pathology biopsy report

1.23

0.22

1.2

1.1

—

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

103

995

1.13

0.22

3.0

3.1

5.49

5.64

mmol/l

0.67

929

(3037467) Urinalysis macro (dipstick) panel - Urine

803

1.11

0.21

4.5

3.6

—

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.3

—

(40769539) Bacteria identified based on 16S rRNA gene [Identifier] in Specimen by Sequencing

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

3.7

—

41.40

—

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

0.00

0.21

0.0

2.0

—

18.77

—

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

0.00

0.21

0.0

1.5

—

1.54

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.8

—

23.10

—

(1175426) CD3 cells/100 lymphocytes in Blood

0.00

0.21

0.0

3.0

—

67.00

—

(3027831) CD3-CD16+CD56+ (Natural killer) cells/100 cells in Blood

0.00

0.21

0.0

2.8

—

7.00

—

(3003265) Liver kidney microsomal Ab [Titer] in Serum by Immunofluorescence

0.00

0.21

0.0

1.9

—

(40760892) CBC W Ordered Manual Differential panel - Blood

534

1.11

0.21

7.0

6.4

—

(3024666) Lithium [Moles/volume] in Serum or Plasma

0.00

0.21

0.0

7.3

—

0.57

—

(3033705) Calcium.ionized [Moles/volume] in Venous blood

0.00

0.21

0.0

2.3

—

(3035285) Chloride [Moles/volume] in Venous blood

0.00

0.21

0.0

2.3

—

106.17

—

(3041354) Potassium [Moles/volume] in Venous blood

0.00

0.21

0.0

2.3

—

4.08

—

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

0.00

0.21

0.0

1.6

—

0.81

—

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

0.00

0.21

0.0

3.6

—

17.42

—

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

108

1.22

0.21

2.4

1.6

—

(40763470) Parainfluenza virus 4 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.21

0.0

2.1

—

(21494815) CD4 cells/100 lymphocytes in Specimen

0.00

0.21

0.0

2.0

—

37.76

—

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

0.00

0.21

0.0

2.1

—

(40763324) Parainfluenza virus 1 RNA [Presence] in Isolate by NAA with probe detection

0.00

0.21

0.0

2.1

—

(3028167) CD3+CD4+ (T4 helper) cells [#/volume] in Blood

0.00

0.20

0.0

2.3

—

735.14

—

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

0.00

0.20

0.0

1.1

—

(3013707) Erythrocyte sedimentation rate by Westergren method

785

1.11

0.20

4.2

3.4

7.76

8.62

mm/h

0.34

729

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

118

1.21

0.20

6.1

7.4

1.10

1.12

mmol/l

0.13

113

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

237

0.87

0.19

6.2

3.4

—

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

663

0.91

0.18

6.7

8.7

4.04

4.05

e9/l

0.01

577

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

194

0.86

0.18

1.2

1.17

7.50

u/ml

—

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

1.16

0.18

4.0

5.8

1.31

0.86

mmol/l

—

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

0.74

0.17

3.2

1.9

1.08

1.20

g/l

—

(3005033) Fetal Nuchal fold Thickness US

101

1.21

0.17

1.4

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

101

1.21

0.17

1.4

—

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

0.75

0.16

4.5

5.4

—

(3023511) Choriogonadotropin [Units/volume] in Urine

1.12

0.15

2.1

1.2

—

(3007461) Platelets [#/volume] in Blood

135

1335

1.23

0.15

15.8

15.3

260.59

258.46

e9/l

0.13

129

1305

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

170

1.14

0.14

2.0

2.1

—

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

122

1.16

0.14

1.5

1.4

—

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

122

1.16

0.14

1.5

1.4

—

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

122

1.16

0.14

1.5

1.4

—

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

122

1.16

0.14

1.5

1.4

—

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

0.81

0.14

1.3

1.6

—

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

0.81

0.14

1.3

1.7

—

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

100

1024

0.92

0.13

3.2

1.47

mmol/l

0.00

980

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

338

1.09

0.12

1.9

2.2

—

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

338

1.09

0.12

1.6

1.3

2.77

1.13

u/ml

—

(40761536) Microorganisms panel - Urine sediment

105

1.16

0.11

5.2

2.8

—

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

105

1029

1.08

0.11

8.7

8.4

97.47

96.59

ml/min/173m2

0.16

820

(3006923) Alanine aminotransferase [Enzymatic activity/volume] in Serum or Plasma

121

1192

1.10

0.11

7.8

8.1

25.90

25.93

u/l

0.00

115

1155

(3042936) Bacteria identified in Isolate by Culture

135

0.88

0.10

1.8

2.2

—

(3019550) Sodium [Moles/volume] in Serum or Plasma

112

1101

1.08

0.10

10.1

10.9

139.42

139.50

mmol/l

0.18

104

1068

(3000330) Specific gravity of Urine by Test strip

1.12

0.10

2.0

2.1

—

(3019900) Cholesterol [Moles/volume] in Serum or Plasma

101

1029

0.94

0.09

3.2

3.3

4.79

4.64

mmol/l

0.94

989

(3004490) Bicarbonate [Moles/volume] standard in Capillary blood

1.04

0.09

2.8

5.3

25.42

24.47

mmol/l

—

(3019198) Lymphocytes [#/volume] in Blood

600

1.06

0.09

6.8

5.7

2.10

1.97

e9/l

0.45

549

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

256

0.92

0.08

1.4

1.7

1.41

1.38

mmol/l

0.05

231

(3025941) Bacteria identified in Stool by Culture

0.83

0.08

1.0

1.2

—

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

1.10

0.07

1.5

—

(3010813) Leukocytes [#/volume] in Blood

135

1339

1.17

0.07

15.7

15.3

6.86

6.77

e9/l

0.21

128

1302

(3026361) Erythrocytes [#/volume] in Blood

135

1338

1.18

0.07

15.7

15.2

4.52

4.55

e12/l

0.41

128

1305

(3009542) Hematocrit [Volume Fraction] of Blood

135

1338

1.18

0.07

16.6

15.5

40.15

40.54

0.67

130

1276

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

345

1.06

0.07

4.0

2.9

—

(3006315) Basophils [#/volume] in Blood

564

1.05

0.06

7.1

5.8

0.03

0.04

e9/l

0.24

500

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

148

1.09

0.06

2.4

13.36

3.39

e6/l

0.73

(3023103) Potassium [Moles/volume] in Serum or Plasma

112

1106

1.06

0.06

10.3

10.9

3.91

mmol/l

0.12

104

1069

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

102

1034

0.95

0.06

3.2

3.5

3.02

2.78

mmol/l

1.74

987

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

129

1.09

0.06

1.7

1.5

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

886

1.04

0.05

3.4

4.1

35.73

38.06

mmol/mol

1.98

848

(3001604) Monocytes [#/volume] in Blood

566

1.04

0.05

7.1

5.7

0.59

0.53

e9/l

0.96

500

(3048689) Calprotectin [Mass/mass] in Stool

179

1.07

0.05

2.1

51.46

72.05

ug/g

0.35

129

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

973

0.96

0.05

2.9

3.0

1.16

1.23

mmol/l

0.40

922

(3023368) Bacteria identified in Blood by Culture

190

1.06

0.04

3.8

4.6

—

(3021614) Rheumatoid factor [Units/volume] in Serum or Plasma

189

0.95

0.03

1.3

1.2

7.60

23.26

iu/ml

—

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

369

0.97

0.02

2.0

2.3

—

(21494755) Public health laboratory ask at order entry panel

182

1.05

0.02

1.1

1.3

—

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

292

1.03

0.02

2.0

3.2

26.33

19.28

ng/l

0.23

136

(40768797) Stomach Pathology biopsy report

119

1.01

0.00

1.2

—

(3007853) Bacteria identified in Skin by Aerobe culture

121

0.99

0.00

3.2

1.6

—

(3013115) Eosinophils [#/volume] in Blood

588

1.01

0.00

7.0

6.0

0.17

0.18

e9/l

0.10

527

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

247

1.01

0.00

1.7

1.6

—

(3036481) Cortisol [Moles/volume] in Serum or Plasma

118

1.02

0.00

1.7

1.8

369.08

388.30

nmol/l

0.16

108

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

158

1.01

0.00

2.5

2.3

0.90

0.60

e6/l

0.44

(3000492) Spirometry study

108

1.02

0.00

1.4

1.3

—

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

1.06

0.00

1.2

1.4

—

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

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.0

—

(42870308) Desmosome IgG Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

1.2

—

(21493195) Respiratory pathogens DNA and RNA tested for in Respiratory system specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(40758990) Choriogonadotropin.beta subunit [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.0

—

(40768795) Lymph node Pathology biopsy report

0.00

-0.00

0.0

1.1

—

(43055089) Myosin Ab [Presence] in Serum or Plasma by Immunoblot

0.00

-0.00

0.0

1.0

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

-0.00

0.0

1.6

—

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

0.96

-0.00

2.1

1.2

257.89

95.08

u/ml

—

(3028433) Virus identified in Specimen by Culture

0.00

-0.00

0.0

1.7

—

(40757349) CD3+CD4+ (T4 helper) cells/CD3+CD8+ (T8 suppressor cells) cells [# Ratio] in Blood

0.00

-0.00

0.0

1.4

—

(3022621) pH of Urine by Test strip

0.92

-0.00

1.7

2.6

—

(3001467) Alkaline phosphatase.bone [Enzymatic activity/volume] in Serum or Plasma

0.00

-0.00

0.0

1.4

—

81.00

—

(3006442) Creatine [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

2.3

—

63.71

—

(3025378) Microscopic observation [Identifier] in Cervix by Cyto stain

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(40768441) Liver Pathology biopsy report

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

(3045156) Carbon dioxide [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.2

—

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

310

1.00

-0.00

1.7

1.4

1.44

1.98

g/l

1.80

192

(3010254) Herpes simplex virus identified in Specimen by Organism specific culture

0.00

-0.00

0.0

1.0

—

(3036048) Francisella tularensis Ab [Titer] in Serum

0.00

-0.00

0.0

1.0

—

(40758292) HTLV I+II Ab panel - Serum

0.00

-0.00

0.0

1.6

—

(3005156) Respiratory syncytial virus A RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(1001509) Gas and Carbon monoxide and Electrolytes panel - Arterial blood

0.00

-0.00

0.0

2.0

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

-0.00

0.0

1.6

—

(3009595) Pneumocystis jiroveci DNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.1

—

(3030429) Borrelia sp DNA [Identifier] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.0

—

(40760848) Basement membrane zone BP180 Ab [Units/volume] in Serum by Immunoassay

0.00

-0.00

0.0

1.2

—

(3051651) Icteric interference index of Serum or Plasma

0.00

-0.00

0.0

1.2

—

(40760847) Basement membrane Ab [Titer] in Serum by Immunofluorescence

0.00

-0.00

0.0

1.0

—

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

0.00

-0.00

0.0

4.4

—

27.33

—

(3022803) Oxygen [Partial pressure] adjusted to patient's actual temperature in Arterial blood

0.00

-0.00

0.0

2.2

—

(3018559) Microscopic observation [Identifier] in Buccal smear by Cyto stain

0.00

-0.00

0.0

1.2

—

(3006462) Nitrate [Presence] in Urine

0.00

-0.00

0.0

2.5

—

(3000108) Respiratory syncytial virus B RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

2.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

-0.00

0.0

1.0

—

(3000093) Morphology [Interpretation] in Blood Narrative

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.1

—

180.43

—

(3025634) Parainfluenza virus 1 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.9

—

(3038297) Parainfluenza virus 4 RNA [Presence] in Specimen by NAA with probe detection

0.00

-0.00

0.0

1.9

—

(4281824) Cell count and differential, peritoneal fluid

0.00

-0.00

0.0

1.2

—

(44816752) ERBB2 gene copy number/nucleus in Tissue by FISH

0.00

-0.00

0.0

1.0

—

(3005791) Eosinophil cationic protein (ECP) [Mass/volume] in Serum

0.00

-0.00

0.0

3.2

—

15.96

—

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

0.00

-0.00

0.0

1.2

—

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

0.00

-0.00

0.0

1.4

—

(3013201) Beta-2-Microglobulin [Mass/volume] in Serum or Plasma

0.00

-0.00

0.0

1.6

—

2.20

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

-0.00

0.0

1.0

—

33.00

—

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

0.00

-0.00

0.0

1.3

—

(42868647) JC virus Ab [Presence] in Serum or Plasma by Immunoassay

0.00

-0.00

0.0

1.2

—

(44816808) CXCL13 Ag [Mass/volume] in Cerebral spinal fluid

0.00

-0.00

0.0

1.0

—

(3022411) Androstenedione [Moles/volume] in Serum or Plasma

0.00

-0.00

0.0

1.3

—

8.00

—

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

0.00

-0.00

0.0

1.6

—

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

0.00

-0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

-0.00

0.0

1.6

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

-0.00

0.0

2.0

—

(3010503) CD19 cells [#/volume] in Blood

0.00

-0.00

0.0

1.4

—

0.29

—

(36305771) Cryptosporidium sp DNA [Presence] in Stool by NAA with probe detection

0.00

-0.00

0.0

1.2

—

Mortality – FinRegistry

↥

Association

Association between endpoint Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_BALANC_REARR_STRUCTURAL_MARKERS_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

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Index endpoint: Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED – Balanced rearrangements and structural markers, 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

Balanced rearrangements and structural markers, 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

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints