Risteys · L12_EXCESSSKINDANDSUBCUTIS

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 — L987 Cause of death: ICD-10 — L987 2 out of 7 registries used, show all original rules.	33
4. Check minimum number of events None	33
5. Include endpoints None	33
6. Filter based on genotype QC (FinnGen only)	33

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	49	48	-
Only index persons	49	48	-
Unadjusted period prevalence (%)
Whole population	0.00	0.00	-
Only index persons	0.00	0.00	-
Median age at first event (years)
Whole population	-	51.65	-
Only index persons	51.20	51.65	-

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	33	31	-
Unadjusted period prevalence (%)	0.01	0.01	-
Median age at first event (years)	57.96	59.60	-

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

No data

-FinnGen-

Cumulative Incidence Function

Not a core endpoint, no data to show.

CodeWAS (R11)

↥

CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.

This is a new tool, please reach out using the contact form for feedback and improvement ideas.

First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log₁₀(p-value) ≥ 6.

No data available

LabWAS

↥

(ID) Name

N Cases

N Controls

-log₁₀(p)

cases

controls

cases

controls

unit

-log₁₀(p)

N cases

N controls

(3006140) Bilirubin.total [Moles/volume] in Serum or Plasma

142

7.38

5.37

11.9

7.0

11.1

10.1

umol/l

0.25

131

(3044640) Blood type and Crossmatch panel - Blood

4.97

4.79

2.8

2.2

—

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

11.25

4.57

4.1

4.2

13.3

98.4

u/ml

—

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

14.29

4.50

2.0

2.8

38.5

25.6

—

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

4.61

4.48

3.0

3.2

12.0

23.1

ng/l

1.34

(3000330) Specific gravity of Urine by Test strip

9.16

4.13

4.5

2.2

—

(3024561) Albumin [Mass/volume] in Serum or Plasma

110

4.00

3.51

5.0

3.7

36.4

36.3

g/l

0.03

104

(3027273) Bicarbonate [Moles/volume] in Venous blood

10.12

3.41

1.8

2.3

26.5

25.6

mmol/l

—

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

3.67

3.28

3.9

2.9

—

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

5.50

3.02

1.6

5.6

5.7

6.0

kpa

—

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

128

3.63

2.94

5.0

3.8

—

(3013512) EKG study

3.46

2.84

6.8

3.4

—

(3012544) pH of Venous blood

4.92

2.78

1.6

5.4

—

(3025941) Bacteria identified in Stool by Culture

4.92

2.78

1.1

1.2

—

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

5.84

2.52

2.2

1.6

—

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

4.92

2.51

1.1

1.0

—

(4035726)

4.24

2.46

1.3

1.2

—

(3023368) Bacteria identified in Blood by Culture

3.12

2.43

5.1

3.5

—

(3037467) Urinalysis macro (dipstick) panel - Urine

198

3.72

2.35

6.1

3.7

—

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

275

+∞

2.33

20.2

12.2

140.2

139.9

mmol/l

0.46

264

(3004789) Transferrin [Mass/volume] in Serum or Plasma

3.48

2.21

1.9

2.4

2.3

2.4

g/l

—

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

276

+∞

2.10

20.4

12.4

3.9

mmol/l

0.95

264

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

3.94

2.10

2.4

1.6

—

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

282

+∞

1.89

23.4

11.9

17.3

22.8

mg/l

0.60

213

(40763571) Iron/Transferrin [Ratio] in Serum or Plasma

3.19

1.87

2.0

2.6

30.1

24.1

—

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

2.64

1.83

1.4

1.8

2.3

g/l

—

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

4.01

1.68

1.6

1.7

—

(3042936) Bacteria identified in Isolate by Culture

2.96

1.64

2.1

2.2

—

(42870588) Differential panel, method unspecified - Blood

2.43

1.63

9.6

3.9

—

(3048689) Calprotectin [Mass/mass] in Stool

2.79

1.59

4.4

2.2

54.6

83.8

ug/g

—

(40761535) Cells panel - Urine sediment

3.73

1.58

5.4

4.1

—

(3044889) 12 lead EKG panel

183

2.50

1.57

3.9

3.3

—

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

290

+∞

1.44

29.2

13.4

67.0

69.3

umol/l

0.41

290

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

2.38

1.40

2.9

2.2

—

(3021960) Folate [Moles/volume] in Serum or Plasma

2.39

1.36

1.8

1.5

18.9

22.5

nmol/l

0.51

(40768804) Tissue Pathology biopsy report

126

2.20

1.32

2.4

1.9

—

(3000494) Fungus identified in Specimen by Culture

2.45

1.29

1.8

1.4

—

(3015736) pH of Urine

109

2.15

1.28

6.4

3.6

—

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

2.21

1.26

1.5

1.4

—

(36304419) Bacteria [Presence] in Urine

2.21

1.26

4.3

3.0

—

(40761511) CBC panel - Blood by Automated count

297

+∞

1.24

23.4

9.6

—

(3022145) Colonoscopy Study observation

2.50

1.16

1.6

1.3

—

(3022621) pH of Urine by Test strip

2.49

1.07

2.2

2.6

—

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

2.49

0.99

4.0

5.9

—

(3002256) Pathology report gross observation

2.19

0.98

1.1

1.2

—

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

2.00

0.93

1.5

2.3

—

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

114

1.78

0.79

4.2

5.3

1.2

mmol/l

0.01

104

(40768797) Stomach Pathology biopsy report

1.95

0.77

1.3

1.1

—

(36660697) Celiac disease serology panel - Serum

2.08

0.74

1.0

—

(3019225) pH of Specimen

2.08

0.74

6.4

3.1

—

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

1.84

0.72

5.6

3.8

—

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

1.85

0.66

1.4

—

(40758558) Short blood count panel - Blood

1.73

0.66

10.9

8.3

—

(3003338) MCHC [Mass/volume]

248

1.85

0.54

25.8

15.5

331.4

331.3

g/l

0.01

248

(3041096) Erythrocytes [Presence] in Urine by Automated

1.54

0.43

6.3

3.0

—

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

1.55

0.42

3.0

1.8

—

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

0.00

0.42

0.0

1.4

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.42

0.0

1.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.42

0.0

1.3

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.42

0.0

1.3

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.42

0.0

1.3

—

(3016879) Cocaine [Presence] in Urine

0.00

0.42

0.0

1.3

—

(40760892) CBC W Ordered Manual Differential panel - Blood

1.42

0.42

8.7

5.5

—

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

1.48

0.37

1.5

—

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

105

1.39

0.31

7.5

3.6

—

(1761868) Lipid panel - Serum or Plasma

107

1.35

0.27

5.5

2.3

—

(3026008) Bacteria identified in Urine by Culture

100

1.31

0.22

5.3

2.7

—

(3023511) Choriogonadotropin [Units/volume] in Urine

0.00

0.22

0.0

1.2

—

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

0.00

0.21

0.0

1.3

—

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

0.00

0.21

0.0

1.4

—

(3035941) MCH [Entitic mass]

316

+∞

0.20

36.4

17.4

30.0

30.2

0.21

310

(3024731) MCV [Entitic volume]

316

+∞

0.20

36.6

17.4

90.7

90.8

0.05

310

(3026361) Erythrocytes [#/volume] in Blood

316

+∞

0.20

36.8

17.5

4.5

e12/l

0.01

307

(3000963) Hemoglobin [Mass/volume] in Blood

316

+∞

0.20

36.9

17.5

133.1

133.8

g/l

0.12

310

(3010813) Leukocytes [#/volume] in Blood

316

+∞

0.20

36.9

17.5

6.7

6.4

e9/l

0.39

307

(3007461) Platelets [#/volume] in Blood

316

+∞

0.20

36.7

17.5

269.8

263.7

e9/l

0.18

309

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

1.24

0.20

1.9

1.6

—

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

1.25

0.18

1.1

1.6

—

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

224

1.26

0.16

2.6

3.6

—

(3018572) Chloride [Moles/volume] in Blood

0.00

0.0

4.3

—

107.7

—

(3020629) Protein S Free Ag actual/normal in Platelet poor plasma by Immunoassay

0.00

0.0

1.0

—

99.0

—

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

0.00

0.0

1.6

—

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

0.00

0.0

4.0

—

1.1

—

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

0.00

0.0

1.3

—

(3020891) Body temperature

0.00

0.0

4.5

—

(3039000) Anion gap in Blood

0.00

0.0

4.3

—

10.8

—

(4094501)

0.00

0.0

1.1

—

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

0.00

0.0

1.6

—

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

0.00

0.0

1.2

—

(3025130) Human papilloma virus identified in Specimen

0.00

0.0

2.5

—

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

0.00

0.0

1.0

—

(3012110) Lysozyme [Mass/volume] in Serum or Plasma

0.00

0.0

2.0

—

8.1

—

(3030692) Respiratory virus DNA+RNA [Identifier] in Specimen by NAA with probe detection

0.00

0.0

1.8

—

(3014959) Toxoplasma gondii IgG Ab [Units/volume] in Serum

0.00

0.0

2.2

—

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

0.00

0.0

1.1

—

(3024928) Oxygen saturation in Venous blood

0.00

0.0

4.7

—

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

0.00

0.0

1.4

—

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

1.02

0.00

1.7

1.8

—

(3023410) Appearance of Cerebral spinal fluid

0.00

0.0

1.0

—

(1175715) Chlamydophila pneumoniae IgM Ab [Presence] in Serum by Immunoassay

0.00

0.0

1.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_EXCESSSKINDANDSUBCUTIS and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_EXCESSSKINDANDSUBCUTIS.

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: L12_EXCESSSKINDANDSUBCUTIS – Excessive and redundant skin and subcutaneous tissue

GWS hits: -

Endpoint

Case Overlap

Survival Analysis

Genetic Correlations

Genetic Signals

N (Jaccard index)

HR [CI]

rg [CI]

Hits

Coloc Hits

FinRegistry

FinnGen

FinRegistry

FinnGen

Loading data

NAME	L12_EXCESSSKINDANDSUBCUTIS
CONTROL_EXCLUDE	L12_OTHERSKINSUBCUTIS
CONTROL_PRECONDITIONS
CONTROL_CONDITIONS
SEX
INCLUDE
PRE_CONDITIONS
CONDITIONS
OUTPAT_ICD
OUTPAT_OPER
HD_MAINONLY
HD_ICD_10_ATC
HD_ICD_10	L987
HD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
HD_ICD_10_EXCL
HD_ICD_9_EXCL
HD_ICD_8_EXCL
COD_MAINONLY
COD_ICD_10	L987
COD_ICD_9	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_8	$!$	The FinnGen clinical team has checked and no code can be used for this rule.
COD_ICD_10_EXCL
COD_ICD_9_EXCL
COD_ICD_8_EXCL
OPER_NOM
OPER_HL
OPER_HP1
OPER_HP2
KELA_REIMB
KELA_REIMB_ICD
KELA_ATC_NEEDOTHER
KELA_ATC
KELA_VNRO_NEEDOTHER
KELA_VNRO
CANC_TOPO
CANC_TOPO_EXCL
CANC_MORPH
CANC_MORPH_EXCL
CANC_BEHAV

Excessive and redundant skin and subcutaneous tissue

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

1. Apply sex-specific rule

2. Check conditions

3. Check pre-conditions, main-only, mode, registry filters

4. Check minimum number of events

5. Include endpoints

6. Filter based on genotype QC (FinnGen only)

Similar endpoints

Case counts by codes

Summary Statistics

-FinRegistry-

Key figures

-FinnGen-

Key figures

-FinRegistry-

Age distribution of first events

-FinnGen-

Age distribution of first events

-FinRegistry-

Year distribution of first events

-FinnGen-

Year distribution of first events

-FinRegistry-

Cumulative Incidence Function

-FinnGen-

Cumulative Incidence Function

CodeWAS (R11)

LabWAS

Mortality – FinRegistry

Association

Females

Males

Mortality risk

Relationships between endpoints