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Standard

Red blood cell count

NRG1 · rs2466076

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 13 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 545,203 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0123 SD unit higher (95% confidence interval 0.0086-0.0159); p = 4 × 10−11.

How common The T allele had a frequency of about 54% in the people studied.

Where it sits Chromosome 8, band 8p12 — in an intron of NRG1.

How common each version is

GT
Korean KRGDB
G 21.4% · T 78.6%
Korean Korea4K
G 21.6% · T 78.3%
Korean Korea1K
G 20.6% · T 79.4%
Japanese ToMMo
G 22.0% · T 78.0%
Vietnamese
G 20.6% · T 79.4%
World gnomAD
G 46.3% · T 53.7%
World 1000 Genomes
G 42.1% · T 57.9%
World TOPMed
G 45.9% · T 54.1%

By ancestry gnomAD

East Asian
G 17.4% · T 82.6%
European (non-Finnish)
G 45.9% · T 54.1%
African / African American
G 46.7% · T 53.3%
South Asian
G 42.4% · T 57.6%
Admixed American (Latino)
G 52.1% · T 47.9%
Middle Eastern
G 36.3% · T 63.7%
Finnish
G 56.5% · T 43.5%
Ashkenazi Jewish
G 39.1% · T 60.9%

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

G/G No copy of the version the research linked to Red blood cell count. This is the starting point the study compared everyone against.
G/T One copy of the version the research linked to Red blood cell count. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Red blood cell count. 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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Red blood cell count (rs2466076). MyGeneLog™. https://www.mygenelog.com/variants/rs2466076

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