This is a non-core endpoint: only basic statistics are computed.

See these related core endpoints for full statistics:

L12_OTHPIGMENTATION

Other disorders of diminished melanin formation

Endpoint Browser

L12_OTHERDISMELANIN

No definition available.

Suggest a new description

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 — L81.6 Cause of death: ICD-10 — L81.6 2 out of 7 registries used, show all original rules.	10
4. Check minimum number of events None	10
5. Include endpoints None	10
6. Filter based on genotype QC (FinnGen only)	10

Control definitions (FinnGen only)

Control exclude: L12_OTHERSKINSUBCUTIS

Extra metadata

Level in the ICD hierarchy: 4
First used in FinnGen datafreeze: DF2
Parent code in ICD-10: L81
Name in latin: Hypomelaninismus alius

NAME	L12_OTHERDISMELANIN
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	L816
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	L816
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

Similar endpoints

↥

List of similar endpoints to Other disorders of diminished melanin formation 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:

Not enough data for upset plot.

Full data table

Summary Statistics

↥

-FinRegistry-

Key figures

	All	Female	Male
Number of individuals
Whole population	123	69	54
Only index persons	92	54	38
Unadjusted period prevalence (%)
Whole population	0.00	0.00	0.00
Only index persons	0.00	0.00	0.00
Median age at first event (years)
Whole population	-	15.73	5.86
Only index persons	19.42	26.27	9.69

-FinnGen-

Key figures

	All	Female	Male
Number of individuals	10	7	-
Unadjusted period prevalence (%)	0.00	0.00	-
Median age at first event (years)	62.96	62.66	-

-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

(3026008) Bacteria identified in Urine by Culture

0.00

1.54

0.0

3.3

—

(1761868) Lipid panel - Serum or Plasma

2.43

0.55

3.2

3.1

—

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

0.00

0.45

0.0

4.1

—

1.8

—

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

0.00

0.44

0.0

3.0

—

0.9

—

(40768804) Tissue Pathology biopsy report

1.62

0.29

3.4

1.6

—

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

1.56

0.29

3.0

3.4

—

(3018677) aPTT in Platelet poor plasma by Coagulation assay

0.00

0.23

0.0

1.3

—

31.2

—

(46236952) Glomerular filtration rate/1.73 sq M.predicted [Volume Rate/Area] in Serum, Plasma or Blood by Creatinine-based formula (MDRD)

0.00

0.22

0.0

1.7

—

77.2

—

(3001784) Prostate Specific Ag Free/Prostate specific Ag.total in Serum or Plasma

0.00

0.22

0.0

4.2

—

19.8

—

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

0.00

0.22

0.0

1.9

—

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

0.00

0.22

0.0

1.8

—

(3027944) Amphetamines [Presence] in Urine

0.00

0.0

1.0

—

(3000991) Gas panel - Venous blood

0.00

0.0

9.2

—

(3000764) Benzodiazepines [Presence] in Urine

0.00

0.0

1.0

—

(3035797) Protein.monoclonal band 2 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.0

—

35.3

—

(3027008) Opiates [Presence] in Urine

0.00

0.0

1.0

—

(3028300) Cannabinoids [Presence] in Urine

0.00

0.0

1.0

—

(40761511) CBC panel - Blood by Automated count

+∞

0.00

19.5

11.5

—

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

0.00

0.0

1.0

—

0.0

—

(3043238) Trisomy 21 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

(3022621) pH of Urine by Test strip

0.00

0.0

2.0

—

(3005033) Fetal Nuchal fold Thickness US

0.00

0.0

1.8

—

(40768793) Breast Pathology biopsy report

0.00

0.0

1.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

(3020961) Endomysium IgA Ab [Titer] in Serum

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

(3047352) Trisomy 18 risk [Likelihood] in Fetus

0.00

0.0

1.8

—

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

0.00

0.0

5.4

—

0.0

—

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

+∞

0.00

17.0

16.1

76.7

74.3

umol/l

—

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

0.00

0.0

1.0

—

0.0

—

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

0.00

0.0

1.2

—

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

0.00

0.0

1.0

—

9.0

—

(3029713) Protein.monoclonal band 1 [Mass/volume] in Serum or Plasma by Electrophoresis

0.00

0.0

1.0

—

0.0

—

(3000330) Specific gravity of Urine by Test strip

0.00

0.0

1.8

—

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

0.00

0.0

1.2

—

(3045414) Leukocytes [Presence] in Urine

0.00

0.0

1.1

—

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

0.89

0.00

4.8

2.7

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

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

0.00

0.0

1.0

—

0.9

—

(3033319) Streptococcus pyogenes Ag [Presence] in Throat

0.00

-0.00

0.0

1.3

—

(21494755) Public health laboratory ask at order entry panel

0.00

-0.00

0.0

1.1

—

(3012544) pH of Venous blood

0.00

-0.00

0.0

2.1

—

Mortality – FinRegistry

↥

Association

Association between endpoint L12_OTHERDISMELANIN and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have L12_OTHERDISMELANIN.

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_OTHERDISMELANIN – Other disorders of diminished melanin formation

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

Other disorders of diminished melanin formation

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