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Sensitive

Type 2 diabetes

MAEA · rs6815464

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−20, 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 5,999 East Asian ancestry cases, 9,001 East Asian ancestry controls, 794 Malay ancestry cases, 1,240 Malay ancestry controls, 159 Filipino ancestry cases, 1,624 Filipino ancestry controls; replicated in 18,127 East Asian ancestry cases, 17,746 East Asian ancestry controls.

The effect Each copy of the C allele carried 1.13 times the odds of Type 2 diabetes (95% confidence interval 1.10-1.16); p = 2 × 10−20.

How common The C allele had a frequency of about 58% in the people studied.

Where it sits Chromosome 4, band 4p16.3 — in an intron of MAEA.

How common each version is

CG

By ancestry gnomAD

East Asian
C 58.3% · G 41.8%
European (non-Finnish)
C 97.5% · G 2.5%
African / African American
C 87.2% · G 12.8%
South Asian
C 84.8% · G 15.3%
Admixed American (Latino)
C 78.5% · G 21.5%
Middle Eastern
C 95.9% · G 4.4%
Finnish
C 95.3% · G 4.6%
Ashkenazi Jewish
C 93.5% · G 6.5%

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

C/C Two copies of the version the research linked to Type 2 diabetes. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/G One copy of the version the research linked to Type 2 diabetes. That is a smaller link than two copies.
G/G No copy of the version the research linked to Type 2 diabetes. This is the starting point the study compared everyone against.
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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Type 2 diabetes (rs6815464). MyGeneLog™. https://www.mygenelog.com/variants/rs6815464

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