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Sensitive

Diabetes / "Sugar"

ANK1 · rs12544241

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, with 6 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 16,718 African American or Afro-Caribbean cases, 38,787 African American or Afro-Caribbean controls.

The effect Each copy of the G allele shifted the measure 0.11 lower (95% confidence interval 0.08-0.139); p = 1 × 10−12.

How common The G allele had a frequency of about 30% in the people studied.

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

How common each version is

AG
Korean KRGDB
A 42.8% · G 57.2%
Korean Korea4K
A 42.6% · G 57.4%
Korean Korea1K
A 43.5% · G 56.5%
Japanese ToMMo
A 51.0% · G 49.0%
Vietnamese
A 32.6% · G 67.5%
World gnomAD
A 60.0% · G 40.0%
World 1000 Genomes
A 58.6% · G 41.4%
World TOPMed
A 60.6% · G 39.5%

By ancestry gnomAD

East Asian
A 39.4% · G 60.6%
European (non-Finnish)
A 56.6% · G 43.4%
African / African American
A 71.7% · G 28.3%
South Asian
A 58.8% · G 41.2%
Admixed American (Latino)
A 55.0% · G 45.0%
Middle Eastern
A 59.2% · G 40.8%
Finnish
A 53.5% · G 46.5%
Ashkenazi Jewish
A 60.1% · G 39.9%

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 No copy of the version the research linked to Diabetes / "Sugar". This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Diabetes / "Sugar". That is a smaller link than two copies.
G/G Two copies of the version the research linked to Diabetes / "Sugar". 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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Diabetes / "Sugar" (rs12544241). MyGeneLog™. https://www.mygenelog.com/variants/rs12544241

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