Sensitive

Type 2 diabetes

SHROOM3 · rs56281442

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻⁸, with 1 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 148,726 European ancestry cases, 24,646 African American cases, 8,616 Hispanic cases, 46,511 Asian ancestry cases, 965,732 European ancestry controls, 31,446 African American controls, 11,829 Hispanic controls, 169,776 Asian ancestry controls.

The effect Each copy of the G allele shifted the measure 0.025 lower (95% confidence interval 0.016-0.034); p = 1 × 10⁻⁸.

How common The G allele had a frequency of about 36% in the people studied.

Where it sits Chromosome 4, band 4q21.1 — in an intron of SHROOM3.

How common each version is

AG

Korean KRGDB

A 96.5% · G 3.5%

Korean Korea4K

A 97.0% · G 3.0%

Korean Korea1K

A 96.8% · G 3.2%

Japanese ToMMo

A 97.3% · G 2.7%

Vietnamese

A 93.0% · G 7.0%

World gnomAD

A 73.0% · G 27.1%

World 1000 Genomes

A 82.4% · G 17.6%

World TOPMed

A 73.4% · G 26.6%

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

A/A No copy of the version the research linked to Type 2 diabetes. This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Type 2 diabetes. That is a smaller link than two copies.

G/G 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.

Source

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis

Vujkovic M, Keaton JM, Lynch JA, Miller DR, Zhou J, Tcheandjieu C, Huffman JE, Assimes TL, Lorenz K, Zhu X, Hilliard AT, Judy RL

and 35 more — show all

HPAP Consortium · Regeneron Genetics Center · VA Million Veteran Program

Nature genetics · 2020 · PMID 32541925 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Type 2 diabetes (rs56281442). MyGeneLog™. https://www.mygenelog.com/variants/rs56281442

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