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Standard

Mean reticulocyte volume (UKB data field 30260)

ANK1 · rs192669804

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 2 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 394,642 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.132 higher (95% confidence interval 0.092-0.172); p = 1 × 10−11.

How common The G allele had a frequency of about 0% in the people studied.

Where it sits Chromosome 8, band 8p11.21 — in an intron of ANK1.

How common each version is

CG
World gnomAD
C 99.8% · G 0.2%
World 1000 Genomes
C 99.7% · G 0.3%
World TOPMed
C 99.7% · G 0.3%

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. No Korean figure for this position yet.

What each result means

C/C No copy of the version the research linked to Mean reticulocyte volume (UKB data field 30260). This is the starting point the study compared everyone against.
C/G One copy of the version the research linked to Mean reticulocyte volume (UKB data field 30260). That is a smaller link than two copies.
G/G Two copies of the version the research linked to Mean reticulocyte volume (UKB data field 30260). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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Mean reticulocyte volume (UKB data field 30260) (rs192669804). MyGeneLog™. https://www.mygenelog.com/variants/rs192669804

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