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Phosphatidylcholine(35:4)_[M+H]1+/Phosphatidylethanolamine(38:4)_[M+H]1+/Phosphatidate(40:5)_[M+NH4]1+ levels

ALDH1A2 · rs261333

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 3 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 5,662 Pakistani ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.188 higher (95% confidence interval 0.14-0.24); p = 7 × 10−13.

Where it sits Chromosome 15, band 15q21.3 — in a non-coding transcript of ALDH1A2.

How common each version is

CT
Korean KRGDB
C 27.2% · T 72.8%
Korean Korea4K
C 27.0% · T 73.0%
Japanese ToMMo
C 25.4% · T 74.6%
Vietnamese
C 20.6% · T 79.4%
World gnomAD
C 41.4% · T 58.6%
World 1000 Genomes
C 32.4% · T 67.6%
World TOPMed
C 39.8% · T 60.2%

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.

What each result means

C/C Two copies of the version the research linked to Phosphatidylcholine(35:4)_[M+H]1+/Phosphatidylethanolamine(38:4)_[M+H]1+/Phosphatidate(40:5)_[M+NH4]1+ levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Phosphatidylcholine(35:4)_[M+H]1+/Phosphatidylethanolamine(38:4)_[M+H]1+/Phosphatidate(40:5)_[M+NH4]1+ levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to Phosphatidylcholine(35:4)_[M+H]1+/Phosphatidylethanolamine(38:4)_[M+H]1+/Phosphatidate(40:5)_[M+NH4]1+ levels. This is the starting point the study compared everyone against.
Source

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Phosphatidylcholine(35:4)_[M+H]1+/Phosphatidylethanolamine(38:4)_[M+H]1+/Phosphatidate(40:5)_[M+NH4]1+ levels (rs261333). MyGeneLog™. https://www.mygenelog.com/variants/rs261333

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