Balanced rearrangements and structural markers, not elsewhere classified

Q17_BALANC_REARR_STRUCTURAL_MARKERS_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 — Q95 Cause of death: ICD-10 — Q95 2 out of 7 registries used, show all original rules.	137
4. Check minimum number of events None	137
5. Include endpoints None	137
6. Filter based on genotype QC (FinnGen only)	137

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	137	96	41
Unadjusted period prevalence (%)	0.03	0.03	0.02
Median age at first event (years)	31.16	29.02	36.19

-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
123: Matched controls
1229

Code

Vocabulary

Description

Odds Ratio

-log₁₀(p)

N matched cases

N matched controls

Q95.0

ICD-10 Finland

Balanced translocation and insertion in normal individual

+∞

104.6

Z31.5

ICD-10 Finland

Genetic counselling

69.2

70.4

O35.1

ICD-10 Finland

Maternal care for (suspected) chromosomal abnormality in fetus

29.5

15.2

Q95.1

ICD-10 Finland

Chromosome inversion in normal individual

+∞

14.9

N96

ICD-10 Finland

Habitual aborter

156.6

13.7

Q95.8

ICD-10 Finland

Other balanced rearrangements and structural markers

+∞

10.6

Z82.7

ICD-10 Finland

Family history of congenital malformations, deformations and chromosomal abnormalities

96.4

8.5

Q95.2

ICD-10 Finland

Balanced autosomal rearrangement in abnormal individual

+∞

8.4

MAA10

NOMESCO Finland

Biopsy of chorionic villus

42.5

6.8

N46

ICD-10 Finland

Male infertility

28.3

6.3

MA4AT

NOMESCO Finland

Chorion biopsy with ultrasound guidance

28.3

6.3

MAA00

NOMESCO Finland

Amniocentesis

9.4

6.2

LabWAS

↥

(ID) Name

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

25.69

14.71

1.0

—

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

5.66

7.13

1.4

1.3

—

(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

3.90

5.52

1.8

1.4

—

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

113

2.48

3.69

1.6

—

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

3.29

2.70

1.9

1.6

0.5

nmol/l

—

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

116

2.18

2.65

1.1

1.3

57.5

121.2

iu/ml

—

(3044355) Beta 2 glycoprotein 1 IgG Ab [Units/volume] in Serum or Plasma by Immunoassay

3.63

2.31

1.0

1.3

—

8.6

—

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

3.82

2.18

2.7

2.8

4.1

e9/l

—

(3032035) Polymorphonuclear cells/100 leukocytes in Blood

3.82

2.18

2.7

3.1

57.6

55.6

—

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

369

1.66

2.08

2.2

1.7

—

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

4.13

2.06

1.0

1.3

—

(3013139) Helicobacter pylori Ag [Presence] in Stool

2.32

2.02

1.1

—

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

202

1.76

1.94

1.8

1.6

—

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

495

1.60

1.93

3.7

4.5

—

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

2.03

1.86

1.6

—

(3002256) Pathology report gross observation

111

1.94

1.80

1.2

—

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

149

0.38

1.77

1.5

1.7

—

(4268621)

3.44

1.76

2.0

2.3

—

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

444

1.53

1.62

2.3

2.0

—

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

1.97

1.58

1.8

1.6

—

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

217

1.62

1.49

1.7

1.5

—

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

2.46

1.49

1.7

—

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

127

1.77

1.47

3.0

2.2

36934.2

4494.9

u/l

—

(40761511) CBC panel - Blood by Automated count

128

1195

2.08

1.41

9.1

9.7

—

(44816559) Phosphatidylethanol [Mass/volume] in Blood

0.00

1.35

0.0

1.2

—

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

1.91

1.31

1.6

1.5

—

(42870588) Differential panel, method unspecified - Blood

332

1.48

1.27

4.8

6.2

—

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

2.46

1.26

1.8

1.2

—

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

2.69

1.22

1.8

1.3

—

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

854

1.47

1.21

4.1

4.0

14.8

14.3

pmol/l

1.04

796

(3000991) Gas panel - Venous blood

1.93

1.17

15.9

15.3

—

(3038177) Helicobacter pylori Ab [Presence] in Serum

2.55

1.16

1.2

1.1

—

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

138

1.62

1.11

1.5

1.4

—

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

1.79

1.10

2.9

3.0

—

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

234

1.48

1.07

1.9

2.3

—

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

112

1025

1.51

1.04

4.6

4.4

1.7

1.8

mu/l

0.20

101

969

(4306422)

2.32

1.04

1.2

1.0

—

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

359

1.38

0.94

7.3

8.1

1.2

mmol/l

0.08

332

(3002032) Base excess in Venous blood by calculation

1.71

0.92

3.8

5.7

1.5

1.8

mmol/l

0.13

(36660697) Celiac disease serology panel - Serum

129

1.55

0.89

1.3

1.1

—

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

1.73

0.88

2.2

3.1

0.2

g/l

0.40

(3004588) Protein electrophoresis panel - Serum or Plasma

1.98

0.85

1.2

2.1

—

(3032080) INR in Blood by Coagulation assay

290

1.38

0.85

2.8

6.4

1.0

1.1

inr

1.25

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

1.67

0.85

3.9

5.6

6.0

5.9

kpa

0.12

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

1.78

0.84

1.1

—

(40768804) Tissue Pathology biopsy report

395

1.33

0.81

1.9

—

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

211

1.41

0.80

2.1

1.8

—

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

1.85

0.80

7.5

33.1

—

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

0.00

0.80

0.0

1.2

—

1.1

—

(3044640) Blood type and Crossmatch panel - Blood

312

1.35

0.79

1.8

2.3

—

(3012544) pH of Venous blood

1.63

0.78

3.9

5.8

—

(4010399)

1.75

0.78

1.2

1.4

—

(3019832) Treponema pallidum Ab [Presence] in Serum

323

1.34

0.76

1.9

1.7

—

(3052851) Hemolysis interference index of Serum or Plasma

2.04

0.73

2.6

2.8

—

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

410

1.30

0.73

1.9

1.8

—

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

1.58

0.72

1.0

—

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

1.96

0.71

1.0

—

(3036489) Thrombin time

1.67

0.63

2.1

4.1

20.9

20.8

—

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

0.00

0.61

0.0

1.4

—

(3022313) Gas panel - Capillary blood

1.57

0.60

2.6

5.5

—

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

0.00

0.60

0.0

4.9

—

1.4

—

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

1.54

0.59

1.1

1.3

—

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

1.70

0.57

1.0

1.4

—

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

170

1.35

0.56

1.9

1.7

—

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

1.60

0.55

3.7

4.0

138.3

131.3

g/l

—

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

0.59

0.54

2.2

1.8

—

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

119

1137

1.35

0.52

11.2

10.7

19.5

20.2

mg/l

0.09

835

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

398

1.23

0.50

7.3

8.1

1.2

mmol/l

0.24

342

(3045414) Leukocytes [Presence] in Urine

1.58

0.50

1.6

—

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

1.45

0.46

1.4

—

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

278

1.25

0.46

3.1

2.5

0.2

0.3

e6/l

0.57

212

(3024354) Oxygen [Partial pressure] in Venous blood

1.48

0.45

4.3

5.8

5.1

4.7

kpa

—

(3022145) Colonoscopy Study observation

1.41

0.45

1.0

1.3

—

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

158

1.31

0.45

2.7

3.3

733.6

380.8

ng/l

—

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

161

0.72

0.44

1.0

1.6

385.6

437.7

pmol/l

0.51

152

(3002582) Erythrocytes [#/volume] in Urine

308

1.23

0.44

3.0

2.6

24.8

246.0

e6/l

0.55

241

(3018095) Leukocytes [#/volume] in Urine

375

1.21

0.43

3.4

3.0

13.9

42.5

e6/l

1.40

255

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

1.45

0.43

1.1

1.6

—

(3010517) Carboxyhemoglobin/Hemoglobin.total in Venous blood

1.64

0.43

4.2

3.8

1.0

1.5

—

(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

—

(3044889) 12 lead EKG panel

601

1.19

0.42

2.7

2.8

—

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

1.53

0.42

1.2

1.6

—

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

0.00

0.41

0.0

2.4

—

7.4

—

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

0.00

0.41

0.0

2.4

—

613.2

—

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

0.00

0.41

0.0

1.9

—

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

0.00

0.41

0.0

2.3

—

1.2

—

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

0.00

0.41

0.0

13.2

—

728.4

—

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

0.00

0.41

0.0

2.4

—

1.5

—

(3023183) Ammonium ion [Moles/volume] in Plasma

0.00

0.41

0.0

6.3

—

46.7

—

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

0.00

0.41

0.0

15.0

—

1278.3

—

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

0.00

0.41

0.0

2.4

—

0.2

—

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

1.35

0.41

1.8

2.1

—

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

1.35

0.41

7.3

8.5

27.3

24.9

mmol/l

—

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

1.49

0.41

1.2

1.6

—

(3021589) Normoblasts [#/volume] in Blood

504

1.19

0.40

7.3

8.0

0.0

e9/l

0.50

410

(3019225) pH of Specimen

1.44

0.40

2.0

5.0

—

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

0.00

0.40

0.0

1.6

—

2.8

—

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

0.00

0.40

0.0

1.7

—

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

546

0.84

0.40

4.7

3.1

0.0

estimate

0.00

107

(3026008) Bacteria identified in Urine by Culture

292

1.22

0.40

3.9

2.1

—

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

0.00

0.39

0.0

2.9

—

193.9

—

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

1.40

0.38

1.2

1.9

—

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

542

0.85

0.36

6.4

4.2

0.0

estimate

0.50

113

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

133

0.73

0.35

1.7

2.4

2.5

2.4

mmol/l

—

115

(3043238) Trisomy 21 risk [Likelihood] in Fetus

100

1.33

0.35

1.6

1.5

—

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

540

0.86

0.34

4.7

3.0

0.0

estimate

0.00

108

(3037467) Urinalysis macro (dipstick) panel - Urine

780

1.16

0.33

4.5

3.6

—

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

250

1.20

0.33

1.9

2.1

0.7

0.8

mg/l

0.15

177

(40758558) Short blood count panel - Blood

270

0.82

0.32

5.5

6.0

—

(3018418) pH of Serum or Plasma

242

1.20

0.31

3.3

2.9

7.4

—

(3013707) Erythrocyte sedimentation rate by Westergren method

763

1.15

0.30

4.2

3.4

7.8

8.6

mm/h

0.29

711

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

289

0.83

0.30

5.1

3.1

0.0

estimate

0.50

107

(1761868) Lipid panel - Serum or Plasma

433

0.86

0.29

2.1

2.3

—

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

101

968

1.17

0.29

3.0

3.1

5.5

5.6

mmol/l

0.58

903

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

596

1.14

0.28

3.0

2.9

66.1

69.5

ug/l

0.11

564

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

297

0.85

0.27

1.7

1.8

123.0

93.8

pmol/l

1.20

161

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

104

1.28

0.27

2.4

1.6

—

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

284

1.17

0.27

1.6

1.4

—

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

137

0.79

0.25

1.7

1.9

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

1.27

0.25

1.4

—

(3005033) Fetal Nuchal fold Thickness US

1.27

0.25

1.4

—

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

0.72

0.25

5.2

2.6

10.6

9.9

g/l

—

(3007461) Platelets [#/volume] in Blood

131

1287

1.41

0.25

16.1

15.5

260.2

258.3

e9/l

0.11

125

1259

(36304419) Bacteria [Presence] in Urine

286

1.16

0.24

3.2

2.5

—

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

115

1.24

0.24

6.1

7.5

1.1

mmol/l

0.17

110

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

1.33

0.23

1.6

—

(40768443) Skin Pathology biopsy report

1.33

0.23

1.2

—

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

1.33

0.23

1.0

1.4

—

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

107

1036

1.15

0.23

4.0

—

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

117

1.22

0.21

1.5

1.4

—

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

117

1.22

0.21

1.5

1.4

—

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

117

1.22

0.21

1.5

1.4

—

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

117

1.22

0.21

1.5

1.4

—

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

0.00

0.21

0.0

1.7

—

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

0.00

0.21

0.0

2.0

—

18.8

—

(40768800) Prostate Pathology biopsy report

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

2.4

—

106.4

—

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

0.00

0.21

0.0

2.4

—

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

0.00

0.21

0.0

2.4

—

4.1

—

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

0.00

0.21

0.0

1.5

—

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

0.00

0.21

0.0

1.5

—

(1175426) CD3 cells/100 lymphocytes in Blood

0.00

0.21

0.0

3.0

—

67.0

—

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

0.00

0.21

0.0

2.8

—

7.8

—

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

0.00

0.21

0.0

2.8

—

23.1

—

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

0.00

0.21

0.0

1.9

—

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

328

1.13

0.21

1.6

1.4

2.8

1.2

u/ml

—

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

0.00

0.21

0.0

3.6

—

17.4

—

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

0.00

0.21

0.0

7.3

—

0.6

—

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

0.00

0.21

0.0

2.2

—

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

0.00

0.21

0.0

1.6

—

0.8

—

(3041096) Erythrocytes [Presence] in Urine by Automated

342

0.88

0.21

2.9

2.3

—

(44806118)

0.00

0.21

0.0

2.1

—

(44790048)

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

1.2

—

(44790047)

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

2.4

—

845.6

—

(44790049)

0.00

0.21

0.0

2.1

—

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

0.00

0.21

0.0

1.0

—

(3013512) EKG study

206

0.85

0.19

2.5

2.9

—

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

166

1.17

0.19

2.0

2.1

—

(3009542) Hematocrit [Volume Fraction] of Blood

114

1113

1.14

0.19

13.4

11.6

40.3

0.06

103

941

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

1.22

0.18

4.0

6.1

1.3

0.8

mmol/l

—

(3019198) Lymphocytes [#/volume] in Blood

578

1.10

0.18

6.8

5.8

2.1

2.0

e9/l

0.41

523

(3000494) Fungus identified in Specimen by Culture

110

1.20

0.18

1.5

1.6

—

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

0.75

0.17

3.2

1.8

1.1

1.2

g/l

—

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

1.15

0.16

1.5

—

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

428

0.91

0.16

4.7

2.9

—

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

0.77

0.16

4.5

5.5

—

(3010813) Leukocytes [#/volume] in Blood

131

1291

1.34

0.16

16.1

15.6

6.8

e9/l

0.12

124

1257

(3026361) Erythrocytes [#/volume] in Blood

131

1290

1.35

0.16

16.1

15.5

4.5

e12/l

0.50

124

1259

(3023511) Choriogonadotropin [Units/volume] in Urine

1.15

0.15

2.1

1.2

—

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

109

1065

1.11

0.15

10.3

11.1

139.4

139.5

mmol/l

0.27

102

1031

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

568

0.92

0.15

5.8

5.9

6.4

mmol/l

1.03

502

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

0.83

0.14

1.3

1.7

—

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

0.83

0.14

1.3

1.6

—

(3001604) Monocytes [#/volume] in Blood

545

1.08

0.13

7.1

5.8

0.6

0.5

e9/l

1.04

481

(3006315) Basophils [#/volume] in Blood

545

1.08

0.13

7.2

5.8

0.0

e9/l

0.20

484

(40761536) Microorganisms panel - Urine sediment

104

1.17

0.13

5.2

2.7

—

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

189

0.89

0.13

1.2

7.6

u/ml

—

(3004410) Hemoglobin A1c/Hemoglobin.total in Blood

856

1.08

0.12

3.4

4.1

35.7

38.1

mmol/mol

1.90

819

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

388

1.08

0.12

1.8

1.7

—

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

124

1.14

0.12

1.8

1.5

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

239

0.91

0.11

1.8

1.6

—

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

228

0.91

0.11

6.2

3.5

—

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

642

0.94

0.10

6.8

8.8

4.1

e9/l

0.01

559

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

109

1071

1.09

0.10

10.5

11.1

3.9

mmol/l

0.19

102

1033

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

117

1153

1.10

0.10

7.9

8.2

26.0

25.6

u/l

0.05

111

1117

(3000330) Specific gravity of Urine by Test strip

1.14

0.10

2.0

2.1

—

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

341

1.08

0.10

4.0

2.9

—

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

1.12

0.10

2.8

5.6

25.4

24.5

mmol/l

—

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

145

1.12

0.10

2.4

13.4

3.5

e6/l

0.72

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

101

993

1.07

0.08

8.9

8.5

97.3

96.3

ml/min/173m2

0.19

789

(3048689) Calprotectin [Mass/mass] in Stool

176

1.09

0.08

2.1

51.5

73.8

ug/g

0.39

125

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

324

1.07

0.08

1.9

2.1

—

(3042936) Bacteria identified in Isolate by Culture

132

0.90

0.07

1.8

2.3

—

(3023368) Bacteria identified in Blood by Culture

187

1.08

0.07

3.8

4.7

—

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

354

0.95

0.06

2.0

2.3

—

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

253

0.94

0.06

1.4

1.7

1.4

mmol/l

0.04

229

(40760892) CBC W Ordered Manual Differential panel - Blood

293

0.94

0.05

6.8

4.3

—

(3013115) Eosinophils [#/volume] in Blood

569

1.03

0.03

7.1

6.1

0.2

e9/l

0.11

509

(3000492) Spirometry study

102

1.09

0.03

1.4

1.3

—

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

989

0.97

0.02

3.1

3.3

1.5

mmol/l

0.00

943

(3015736) pH of Urine

429

0.97

0.02

4.1

2.8

—

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

282

1.04

0.02

1.9

3.2

15.5

18.9

ng/l

0.18

134

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

302

1.03

0.02

1.7

1.4

2.0

g/l

1.76

187

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

1.08

0.02

1.2

1.4

—

(40768797) Stomach Pathology biopsy report

113

1.07

0.02

1.2

—

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

156

1.03

0.00

2.5

2.3

0.9

0.6

e6/l

0.47

(21494755) Public health laboratory ask at order entry panel

176

1.03

0.00

1.1

1.3

—

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

100

998

1.01

0.00

3.2

3.5

3.0

2.8

mmol/l

1.80

949

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

993

0.99

0.00

3.1

3.3

4.8

4.6

mmol/l

1.05

950

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

182

0.99

0.00

1.3

7.6

23.9

iu/ml

—

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

115

1.05

0.00

1.7

1.8

369.1

389.7

nmol/l

0.18

105

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

0.00

0.0

3.2

—

16.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.3

—

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

0.00

0.0

1.4

—

0.3

—

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

0.00

0.0

2.2

—

(4281824)

0.00

0.0

1.2

—

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

0.00

0.0

2.2

—

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

0.00

0.0

1.0

—

(3006462) Nitrate [Presence] in Urine

0.00

0.0

2.5

—

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

0.00

0.0

1.4

—

(40760888) Immunoglobulin light chains.free panel - Serum

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

940

1.00

0.00

2.8

3.1

1.2

mmol/l

0.32

891

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

0.00

0.0

1.4

—

9.0

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

2.1

—

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

0.00

0.0

2.2

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.6

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.8

—

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

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

(3005570) Glucose [Moles/volume] in Urine

0.00

0.0

1.6

—

(3036048) Francisella tularensis Ab [Titer] in Serum

0.00

0.0

1.0

—

(40768795) Lymph node Pathology biopsy report

0.00

0.0

1.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.3

—

2.1

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(4211845)

0.00

0.0

2.5

—

(3029080) Hemoglobin [Entitic mass] in Reticulocytes

0.00

0.0

1.0

—

33.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.4

—

(3007853) Bacteria identified in Skin by Aerobe culture

120

1.00

0.00

3.2

1.6

—

(3005011) Chlamydia sp Ab [Titer] in Serum

0.00

0.0

1.6

—

(3000093) Morphology [Interpretation] in Blood Narrative

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

0.0

2.2

—

(3009871) Measles virus Ab [Titer] in Serum

0.00

0.0

2.0

—

(1617658) Protocol used for examination of sentinel lymph nodes

0.00

0.0

1.0

—

(3022621) pH of Urine by Test strip

0.95

0.00

1.7

2.6

—

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

0.00

0.0

1.8

—

(40758292) HTLV I+II Ab panel - Serum

0.00

0.0

1.6

—

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

0.00

0.0

2.2

—

(40768441) Liver Pathology biopsy report

0.00

0.0

1.3

—

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

0.00

0.0

2.2

—

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

0.00

0.0

2.0

—

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

0.99

0.00

2.1

1.2

257.9

95.0

u/ml

—

(3028433) Virus identified in Specimen by Culture

0.00

0.0

1.7

—

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

0.00

0.0

2.0

—

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

0.00

0.0

1.4

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

4.4

—

27.3

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.8

—

(3051651) Icteric interference index of Serum or Plasma

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

↥

Index endpoint: Q17_BALANC_REARR_STRUCTURAL_MARKERS_NOT_ELSEW_CLASSIFIED – Balanced rearrangements and structural markers, 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

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 (R11)

Matched cohort

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints