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Standard

WFDC12 protein levels

KAT8 · rs2884738

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−35, with 2 associations in the GWAS Catalog.

How this is scored

4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0575 higher (95% confidence interval 0.048-0.067); p = 2 × 10−35.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 16, band 16p11.2 — inside KAT8.

How common each version is

AC
Korean KRGDB
A 7.7% · C 92.3%
Korean Korea4K
A 7.2% · C 92.8%
Japanese ToMMo
A 9.1% · C 90.9%
Vietnamese
A 14.3% · C 85.7%
World gnomAD
A 33.5% · C 66.5%
World 1000 Genomes
A 38.8% · C 61.2%
World TOPMed
A 32.9% · C 67.1%

By ancestry gnomAD

East Asian
A 10.7% · C 89.3%
European (non-Finnish)
A 28.8% · C 71.2%
African / African American
A 40.6% · C 59.4%
South Asian
A 67.7% · C 32.3%
Admixed American (Latino)
A 36.1% · C 63.9%
Middle Eastern
A 18.0% · C 82.0%
Finnish
A 31.3% · C 68.7%
Ashkenazi Jewish
A 22.2% · C 77.8%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A Two copies of the version the research linked to WFDC12 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/C One copy of the version the research linked to WFDC12 protein levels. That is a smaller link than two copies.
C/C No copy of the version the research linked to WFDC12 protein levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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WFDC12 protein levels (rs2884738). MyGeneLog™. https://www.mygenelog.com/variants/rs2884738

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