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Standard

High light scatter reticulocyte percentage of red cells

KCNJ12 · rs7215815

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 9 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 408,112 British individuals.

The effect Each copy of the G allele shifted the measure 0.0193 lower (95% confidence interval 0.015-0.024); p = 9 × 10−17.

How common The G allele had a frequency of about 63% in the people studied.

Where it sits Chromosome 17, band 17p11.2 — in an intron of KCNJ12.

How common each version is

AG

By ancestry gnomAD

East Asian
A 39.6% · G 60.4%
European (non-Finnish)
A 36.8% · G 63.2%
African / African American
A 19.7% · G 80.3%
South Asian
A 21.6% · G 78.4%
Admixed American (Latino)
A 43.0% · G 57.0%
Middle Eastern
A 33.1% · G 66.9%
Finnish
A 38.2% · G 61.8%
Ashkenazi Jewish
A 40.8% · G 59.2%

The share of all copies of this position that are each version. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

A/A No copy of the version the research linked to High light scatter reticulocyte percentage of red cells. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to High light scatter reticulocyte percentage of red cells. That is a smaller link than two copies.
G/G Two copies of the version the research linked to High light scatter reticulocyte percentage of red cells. That is the strongest link of the three results. A link in a study is not a diagnosis.
DNA databases also record a third, rare version at this position, carried on fewer than one in a hundred copies of the DNA. The three results above cover the two common versions only.
Source

Quoting this page

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High light scatter reticulocyte percentage of red cells (rs7215815). MyGeneLog™. https://www.mygenelog.com/variants/rs7215815

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