Cleft lip and cleft lip and palate

Q17_CLEFT_LIP_OR_LIP_AND_PALATE

Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

  • not Q17_CLEFT_PALATE_EXCLUDE
472983

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

Registry filters:

  • Hospital discharge: ICD-10 Q36, Q37
  • Hospital discharge: ICD-9 7491[A-G]|7492[A-E]
  • Hospital discharge: ICD-8 74910|7491[123]|74920|74924
  • Cause of death: ICD-10 Q36, Q37
  • Cause of death: ICD-9 7491[A-G]|7492[A-E]
  • Cause of death: ICD-8 74910|7491[123]|74920|74924

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

258

4. Check minimum number of events

None

258

5. Include endpoints

None

258

6. Filter based on genotype QC (FinnGen only)

246

Control definitions (FinnGen only)

Control conditions not Q17_CLEFT_PALATE_EXCLUDE

Extra metadata

First used in FinnGen datafreeze DF10

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3787 1514 2265
Only index persons 3203 1302 1901
Unadjusted period prevalence (%)
Whole population 0.06 0.04 0.06
Only index persons 0.06 0.05 0.07
Median age at first event (years)
Whole population 0.78 1.04 0.51
Only index persons 1.26 2.28 0.56

-FinnGen-

Key figures

All Female Male
Number of individuals 246 132 114
Unadjusted period prevalence (%) 0.05 0.05 0.06
Median age at first event (years) 8.24 11.86 4.07

-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

Association

Association between endpoint Q17_CLEFT_LIP_OR_LIP_AND_PALATE and mortality.

Females

No data

Males

No data

Mortality risk

Mortality risk for people of age

years, who have Q17_CLEFT_LIP_OR_LIP_AND_PALATE.

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_CLEFT_LIP_OR_LIP_AND_PALATE – Cleft lip and cleft lip and palate

GWS hits: 1

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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