Cleft palate

Q17_CLEFT_PALATE

obsolete_cleft palate: ['Congenital fissure of the soft and/or hard palate, due to faulty fusion.']

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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 Q35
  • Hospital discharge: ICD-9 7490[ABCE]
  • Hospital discharge: ICD-8 74900
  • Cause of death: ICD-10 Q35
  • Cause of death: ICD-9 7490[ABCE]
  • Cause of death: ICD-8 74900

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

371

4. Check minimum number of events

None

371

5. Include endpoints

None

371

6. Filter based on genotype QC (FinnGen only)

361

Control definitions (FinnGen only)

Control exclude Q17_CLEFT_LIP_CLEFT_PALATE

Extra metadata

First used in FinnGen datafreeze DF7

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 5369 3001 2360
Only index persons 4471 2522 1949
Unadjusted period prevalence (%)
Whole population 0.08 0.09 0.07
Only index persons 0.08 0.09 0.07
Median age at first event (years)
Whole population 1.83 1.71 1.86
Only index persons 1.89 1.81 1.99

-FinnGen-

Key figures

All Female Male
Number of individuals 361 250 111
Unadjusted period prevalence (%) 0.09 0.10 0.06
Median age at first event (years) 2.82 2.15 4.33

-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_PALATE and mortality.

Females

No data

Males

Parameter HR [95% CI] p-value
Q17_CLEFT_PALATE 1.685 [1.24, 2.3] < 0.001
Birth year 0.987 [0.98, 1.0] 0.008

During the follow-up period (1.1.1998 — 31.12.2019), 51 out of 1196 males with Q17_CLEFT_PALATE died.

Mortality risk

Mortality risk for people of age

years, who have Q17_CLEFT_PALATE.

N-year risk Females Males
1 No data 0.31%
5 No data 2.108%
10 No data 4.96%
15 No data 9.258%
20 No data 15.23%

Relationships between endpoints

Index endpoint: Q17_CLEFT_PALATE – Cleft palate

GWS hits: 4

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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