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Standard

Mean corpuscular hemoglobin

RAB3IL1 · rs1151139

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, with 4 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 350,472 European ancestry individuals, 128,028 East Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0182 higher (95% confidence interval 0.013-0.023); p = 7 × 10−14.

Where it sits Chromosome 11, band 11q12.3 — in an intron of RAB3IL1.

How common each version is

CT
Korean KRGDB
C 68.7% · T 31.3%
Korean Korea4K
C 68.5% · T 31.5%
Korean Korea1K
C 68.6% · T 31.4%
Japanese ToMMo
C 61.5% · T 38.5%
Vietnamese
C 64.6% · T 35.4%
World gnomAD
C 82.9% · T 17.1%
World 1000 Genomes
C 76.3% · T 23.7%
World TOPMed
C 82.3% · T 17.7%

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 No copy of the version the research linked to Mean corpuscular hemoglobin. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mean corpuscular hemoglobin. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mean corpuscular hemoglobin. 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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Mean corpuscular hemoglobin (rs1151139). MyGeneLog™. https://www.mygenelog.com/variants/rs1151139

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