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Standard

Phosphatidylethanolamines (18:0/18:2) (Model 2)

ALDH1A2 · rs12908474

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−50, with 35 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 7,125 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.154 lower; p = 2 × 10−21.

Where it sits Chromosome 15, band 15q21.3 — inside ALDH1A2.

How common each version is

CT
Korean KRGDB
C 73.5% · T 26.5%
Korean Korea4K
C 73.2% · T 26.8%
Korean Korea1K
C 74.1% · T 25.9%
Japanese ToMMo
C 73.9% · T 26.1%
Vietnamese
C 73.6% · T 26.4%
World gnomAD
C 56.5% · T 43.5%
World 1000 Genomes
C 62.7% · T 37.3%
World TOPMed
C 57.3% · T 42.7%

By ancestry gnomAD

East Asian
C 73.6% · T 26.4%
European (non-Finnish)
C 48.3% · T 51.7%
African / African American
C 72.7% · T 27.3%
South Asian
C 56.5% · T 43.5%
Admixed American (Latino)
C 51.6% · T 48.4%
Middle Eastern
C 55.8% · T 44.2%
Finnish
C 47.0% · T 53.0%
Ashkenazi Jewish
C 49.4% · T 50.6%

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

C/C No copy of the version the research linked to Phosphatidylethanolamines (18:0/18:2) (Model 2). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Phosphatidylethanolamines (18:0/18:2) (Model 2). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Phosphatidylethanolamines (18:0/18:2) (Model 2). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Phosphatidylethanolamines (18:0/18:2) (Model 2) (rs12908474). MyGeneLog™. https://www.mygenelog.com/variants/rs12908474

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