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Cleft lip

DOID EFO Endpoint Browser PheWeb

Q17_CLEFT_LIP

cleft lip: ['Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.']

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

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

Registry filters:

  • Hospital discharge: ICD-10 — Q36
  • Hospital discharge: ICD-9 — 7491[A-G]
  • Hospital discharge: ICD-8 — 74910|7491[123]
  • Cause of death: ICD-10 — Q36
  • Cause of death: ICD-9 — 7491[A-G]
  • Cause of death: ICD-8 — 74910|7491[123]

2 out of 7 registries used, show all original rules.

109

4. Check minimum number of events

None

109

5. Include endpoints

None

109

6. Filter based on genotype QC (FinnGen only)

104

Control definitions (FinnGen only)

Control exclude Q17_CLEFT_LIP_CLEFT_PALATE

Extra metadata

First used in FinnGen datafreeze DF7

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 1666 668 995
Only index persons 1426 564 862
Unadjusted period prevalence (%)
Whole population 0.02 0.02 0.03
Only index persons 0.03 0.02 0.03
Median age at first event (years)
Whole population 0.64 0.72 0.53
Only index persons 1.13 1.87 0.64

-FinnGen-

Key figures

All Female Male
Number of individuals 104 59 45
Unadjusted period prevalence (%) 0.02 0.02 0.02
Median age at first event (years) 4.87 7.04 2.03

-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

Mortality – FinRegistry

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Association

Association between endpoint Q17_CLEFT_LIP and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CLEFT_LIP.

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_CLEFT_LIP – Cleft lip

GWS hits: -

Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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