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Standard

Valine levels

near NFE2L3 · rs7786102

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 15 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 434,646 British ancestry individuals, 8,796 British Central/South Asian individuals, 6,573 British African individuals.

The effect Each copy of the A allele shifted the measure 0.02 mmol/L lower (95% confidence interval 0.02-0.02); p = 5 × 10−12.

Where it sits Chromosome 7, band 7p15.2 — between genes, 23.8 kb from MIR148A.

How common each version is

AG
Korean KRGDB
A 43.9% · G 56.1%
Korean Korea4K
A 43.5% · G 56.5%
Korean Korea1K
A 42.2% · G 57.8%
Japanese ToMMo
A 42.3% · G 57.7%
Vietnamese
A 33.3% · G 66.7%
World gnomAD
A 67.3% · G 32.7%
World 1000 Genomes
A 59.6% · G 40.4%
World TOPMed
A 66.8% · G 33.2%

By ancestry gnomAD

East Asian
A 39.4% · G 60.6%
European (non-Finnish)
A 70.9% · G 29.1%
African / African American
A 67.0% · G 33.0%
South Asian
A 57.2% · G 42.8%
Admixed American (Latino)
A 64.7% · G 35.3%
Middle Eastern
A 63.6% · G 36.4%
Finnish
A 70.5% · G 29.5%
Ashkenazi Jewish
A 59.1% · G 40.9%

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

Quoting this page

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Valine levels (rs7786102). MyGeneLog™. https://www.mygenelog.com/variants/rs7786102

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